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Professor Joris Vermeesch heads the Laboratory for Cytogenetics and Genome Research, pioneering genomic technologies to map the causes and mechanisms underlying rare developmental disorders with a focus on structural variation and mosaicism detection. Technologies developed and implemented by the laboratory are arrayCGH, single cell haplotyping, liquid biopsy and whole genome sequencing to enable the study of early embryonic development and early placentation, non-invasive prenatal and cancer screening and monitoring and detection of novel causes of developmental disorders. By combining those methods, we aim to unravel the mutational mechanisms which shape the human genome and are causing diseases from the early developmental stages to birth. In collaboration with clinical geneticists and clinical/educational psychologists and psychiatrists, the laboratory actively seeks to define the molecular causes of developmental, mental, and behavioral disturbances. The laboratory has been studying 22q11DS as a paradigm for other genomic disorders.

Education and Professional Experience

Supervised 23 PhD students and 9 postdoctoral fellows, four of which became independent professors. In addition, over 15 international trainees have visited the laboratory has over the last five years, of which several senior scientists. He is teaching several genetics and genomic courses at KU Leuven & was faculty member of European School of Genetic Medicine, 26thCourse in Medical Genetics ; Faculty member of ECA training courses in cytogenetics & Faculty member of European Advanced Postgraduate Course in Classical and Molecular Cytogenetics.
In addition, he organized national master classes in genomics and is leading the interuniversity course on human genetics.
• 2016-2020 Chair Department of Human Genetics, KU Leuven
• 2013- Full Professor, Department of Human Genetics, KU Leuven
• 2009- Part time full Professor, Department of Human Genetics KU Leuven
• 2008- Coordinator Genomics Core, UZ-KU Leuven
• 2007-2009 Associate Professor, Department of Human Genetics, KU Leuven
• 2004-2007 Assistant Professor, Department of Human Genetics, KU Leuven
• 2001 Director Cytogenetics unit, Center of Human Genetics, UZ Leuven
• 1999-2001 Groupleader genomics in Aventis CropScience, Ghent, Belgium
• 1993-1999 Postdoctoral fellow, KU Leuven
• 1988-1993 Ph.D in Chemistry, Nebraska, USA
• 1988 Ir. Bioengineer University of Gent, Belgium

Selected Recent Major Grants

• 2019-2023 H2020-ES-MSCA-ITN: Innovative training network in reproduction (512K€)
• 2019-2021 4KANKER- PROSTK 2018-134: Genomic and epigenomic profiling of circulating tumor-DNA for non-invasive breast cancer detection (225K€)
• 2019-2023 TBM FWO T003819N: Long Read Sequencing for the detection of cryptic rearrangements in patients with developmental disorders (473K€; 2PIs)
• 2018-2022 DEFIS-DEFPR C14/18/092: SymBioSys: Computationally disentangling cellular heterogeneity (1,566K€; 5 PIs)
• 2017-2020 FWO G0E1117N: Structural variation as cause of phenotypic variability in 22q11DS patiënts (311K€)
• 2017-2019 IMINDDs: GAP; Human genome sequencing (377K€).
• 2016-2018 H2020-OTHER-WIDESPRE: Expanding scientific excellence for research to maternal and fetal health (252K€)
• 2021-2024 IRI-FWO: EU-Genomics: EU Infrastructure for Genome Analysis (647K€)
• 2021-2023 Genomics Core, Core facility (150k€)
• 2019-2023 H2020-ES-RI: Europese geavanceerde infrastructuur voor innovatieve genomica; (777K€; Total 12M€)
• 2017-2021 COREFAC GENOMIC CORE -Core facility Genomics Core (150K€)

Achievements

Genomic instability in human embryos Contrary to dogma, we demonstrated the human embryo is extremely prone to chromosomal segregation errors (Nature Medicine, > 50 publications). Subsequently, by developing single cell haplotyping methods we showed more recently non-canonical zygotic cleavage divisions causing whole genome segregation errors resulting in mixoploidy and chimerism (4 papers, Genome Biology). We obtained 3 patents on single cell sequencing and haplotyping, have worked with companies to create commercial products for the IVF market (OnePGT sold by Agilent) and have introduced the technologies in products used by preimplantation genetic testing laboratories.

Neurodevelopmental disorders caused by structural variation. We pioneered array technology and proved that CNVs are a major cause of developmental disorders (> 30 papers). We have either led or participated in the identification of novel syndromic rare disease entities caused by structural variation (> 100 papers). We succeeded in changing the diagnostic workflows in prenatal and postnatal diagnosis in Belgium, developed best practice guidelines as well as clinical guidelines and leveraged healthcare reimbursement. Internationally, we partnered in over 20 policy papers and guidelines papers. This work led to a spin-off company Cartagenia which developed genomic interpretation software solutions. Recent work focuses on implementing whole genome sequencing enabling genome wide mapping of genetic lesions, mapping the clinical consequences of genomic disorders, understanding the genetic causes leading to the variability seen in genomic disorders (COST,FWO action) and a FWO-TBM project to implement Long read sequencing.

22q11Deletion Syndrome: We focus on 22q11DS (1/2000 births). I was the European anchor in the international brain behavior Consortium (IBBC), an NIMH funded genomics project (10M$) in which WGS was obtained from 1500 22q11DS patients. We uncovered hypervariability in the low copy repeats and variation in the remaining allele which we hypothesize to underlie the high incidence of neurodevelopmental anomalies in this population. With the aim of understanding the causes for the phenotypic variability, we have been sequencing and mapping genetic lesions in 22q11DS patients leading to 25 publications, 10 last author. We discovered novel causes of rare phenotypic variation and uncovered unprecedented structural variation in the low copy repeats, likely drivers of the rearrangements (Nature Medicine, Mol.Psychiatry, ..)

Liquid Biopsy: Our group developed and implement low pass genome wide cfDNA sequencing methods leveraging non-invasive detection of fetal aneuploidies and cancers (20 first and last author publications, JAMA oncology, Lancet,…). Most recently, we have developed a method mapping the epigenomic changes (patent pending) and are combining multi-omics technologies to deconvolute cfDNA sequencing patterns and map disease states. We also developed methods to map rare variants. In 2021, we acquired an SBO-FWO grant (1.5M€) to further develop cfDNA analyses.

Founder and coordinator of KULeuven Genomics Core (www.genomicscore.be) facility, a knowledge hub for novel genomic technologies enabling access to both fundamental and clinical research as well as diagnostic activities. It concentrates all clinical and research activities, and bioinformatics necessary for providing expert single-cell and NGS services. The team exist of 23 persons. We acquired two large Hercules grant enabling us to acquire the PacBio Sequel I (1.2M€;2013-2016) and SequelII (500k€;2021-2025), became official KULeuven core facility and participate in EASIGenomics (Horizon2020-infraia) a network of 14 University cores.

Other scientific output and impact

Keynote/invited speaker on over 25 international meetings/year during the last 5 years including all main international meetings concerning reproductive genetics (2019, Beijng, International Society Reproductive Genetics; ESHRE 2017,2019; ASHRE 2018;, 2019; ISPD 2016, 2017, organizer 2018; PGDInternational Society (2018 Bangkok, Berlin,.., 2013-2020; Montreal 2018), gynaecology (Moscow 2019; Naples 2019; Utrecht 2019;…) and genetics (European Society of Human Genetics, 2017, 2018, 2019; European cytogenetics Society, 2015, 2017, 2019(keynote)as well as national genetic societies Berlin, 2019; Porto, 2020, Greece 2021, Neurenberg, 2022).

Journal Publications

Lannoo, L., van Straaten, K., Breckpot, J., Brison, N., De Catte, L., Dimitriadou, E., Legius, E., Peeters, H., Parijs, I., Tsuiko, O., Vancoillie, L., Vermeesch, J.R., Van Buggenhout, G., Van den Bogaert, K., Van Calsteren, K., Devriendt, K. with Devriendt, K. (corresp. author) (2022). Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge. EUROPEAN JOURNAL OF HUMAN GENETICS. doi: 10.1038/s41431-022-01147-1

Tuveri, S., Debackere, K., Marcelis, L., Dierckxsens, N., Demeulemeester, J., Dimitriadou, E., Dierickx, D., Lefesvre, P., Deraedt, K., Graux, C., Michaux, L., Cools, J., Tousseyn, T., Vermeesch, J.R., Wlodarska, I. with Wlodarska, I. (corresp. author) (2022). Primary mediastinal large B-cell lymphoma is characterized by large-scale copy-neutral loss of heterozygosity. GENES CHROMOSOMES & CANCER, 61 (10), 603-615. doi: 10.1002/gcc.23069

Che, H., Jatsenko, T., Lenaerts, L., Dehaspe, L., Vancoillie, L., Brison, N., Parijs, I., Van den Bogaert, K., Fischerova, D., Heremans, R., Landolfo, C., Testa, A.C., Vanderstichele, A., Liekens, L., Pomella, V., Wozniak, A., Dooms, C., Wauters, E., Hatse, S., Punie, K., Neven, P., Wildiers, H., Tejpar, S., Lambrechts, D., Coosemans, A., Timmerman, D., Vandenberghe, P., Amant, F., Vermeesch, J.R. with Vermeesch, J.R. (corresp. author) (2022). Pan-Cancer Detection and Typing by Mining Patterns in Large Genome-Wide Cell-Free DNA Sequencing Datasets. CLINICAL CHEMISTRY. doi: 10.1093/clinchem/hvac095 Open Access

Siermann, M., Tsuiko, O., Vermeesch, J.R., Raivio, T., Borry, P. with Siermann, M. (corresp. author) (2022). A review of normative documents on preimplantation genetic testing: Recommendations for PGT-P. GENETICS IN MEDICINE, 24 (6), 1165-1175. doi: 10.1016/j.gim.2022.03.001

Petsophonsakul, P., Pirmani, A., De Brouwer, E., Akand, M., Botermans, W., Van Der Aa, F., Vermeesch, J.R., Offner, F., Wuyts, R., Moreau, Y., Maes, I., Blockx, I., Van Rompuy, P., Lewi, M., Vannieuwenhuyse, B. (2022). Augmenting THerapeutic Effectiveness Through Novel Analytics (ATHENA) - A Public and Private Partnership Project Funded by the Flemish Government (VLAIO). Stud Health Technol Inform, 294, 829-833. doi: 10.3233/SHTI220601 Open Access

Vermeesch, J.R., Lenaerts, L. with Vermeesch, J.R. (corresp. author) (2022). Commentary on Multiple Copy Number Variants Detected by Noninvasive Prenatal Testing Comment. CLINICAL CHEMISTRY, 68 (5), 634-634. doi: 10.1093/clinchem/hvac042

Vermeesch, J.R. (2022). The Hunt for the Chromosome 22q11.2 Deletion Syndrome Schizophrenia Genes. Biol Psychiatry, 91 (8), 692-693. doi: 10.1016/j.biopsych.2022.02.002

Rack, K., De Bie, J., Ameye, G., Gielen, O., Demeyer, S., Cools, J., De Keersmaecker, K., Vermeesch, J.R., Maertens, J., Segers, H., Michaux, L., Dewaele, B. with Dewaele, B. (corresp. author) (2022). Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping. AMERICAN JOURNAL OF HEMATOLOGY, 97 (5), 548-561. doi: 10.1002/ajh.26487 Open Access

Masset, H., Ding, J., Dimitriadou, E., Debrock, S., Tsuiko, O., Smits, K., Peeraer, K., Voet, T., Esteki, M.Z., Vermeesch, J.R. (2022). Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing. NUCLEIC ACIDS RESEARCH. doi: 10.1093/nar/gkac134 Open Access

Lejeune, C., Dierickx, D., Wildiers, H., Lannoo, L., Van Calsteren, K., Vandecaveye, V., Menten, B., Vermeesch, J., Amant, F. with Amant, F. (corresp. author) (2022). Pushing the boundaries. Concurrent Hodgkin lymphoma and breast cancer treatment with preservation of pregnancy: A case report. Gynecologic Oncology Reports, 39, Art.No. 100937. doi: 10.1016/j.gore.2022.100937 Open Access

Siermann, M., Claesen, Z., Pasquier, L., Raivio, T., Tsuiko, O., Vermeesch, J.R., Borry, P. with Siermann, M. (corresp. author) (2022). A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing. JOURNAL OF COMMUNITY GENETICS, 13 (1), 1-11. doi: 10.1007/s12687-021-00573-w Open Access

Dierckxsens, N., Li, T., Vermeesch, J.R., Xie, Z. with Dierckxsens, N. (corresp. author), Xie, Z. (corresp. author) (2021). A benchmark of structural variation detection by long reads through a realistic simulated model. GENOME BIOLOGY, 22 (1), Art.No. ARTN 342. doi: 10.1186/s13059-021-02551-4 Open Access

Paluoja, P., Teder, H., Ardeshirdavani, A., Bayindir, B., Vermeesch, J., Salumets, A., Krjutskov, K., Palta, P. with Palta, P. (corresp. author) (2021). Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples. PLOS COMPUTATIONAL BIOLOGY, 17 (12), Art.No. ARTN e1009684. doi: 10.1371/journal.pcbi.1009684 Open Access

De Coster, T., Masset, H., Tsuiko, O., Smits, K., Van Soom, A., Vermeesch, J. (2021). 51 Genome-wide abnormalities resulting from heterogoneic cell division persist in the blastocyst-stage bovine embryo. Reprod Fertil Dev, 34 (2), 260-261. doi: 10.1071/RDv34n2Ab51

De Coster, T., Masset, H., Tšuiko, O., Catteeuw, M., Dierckxsens, N., Debrock, S., Peeraer, K., Smits, K., Van Soom, A., Vermeesch, J.R. (2021). Parental genomes segregate into different blastomeres during multipolar zygotic divisions leading to mixoploid and chimeric blastocysts. doi: 10.1101/2021.11.05.467317

Tsuiko, O., Vanneste, M., Melotte, C., Ding, J., Debrock, S., Masset, H., Peters, M., Salumets, A., De Leener, A., Pirard, C., Kluyskens, C., Hostens, K., van de Vijver, A., Peeraer, K., Denayer, E., Vermeesch, J.R., Dimitriadou, E. with Vermeesch, J.R. (corresp. author), Dimitriadou, E. (corresp. author) (2021). Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation. NPJ GENOMIC MEDICINE, 6 (1), Art.No. ARTN 81. doi: 10.1038/s41525-021-00246-0 Open Access

Lannoo, L., Lenaerts, L., Van Den Bogaert, K., Che, H., Brison, N., Devriendt, K., Amant, F., Vermeesch, J.R., Van Calsteren, K. with Van Calsteren, K. (corresp. author) (2021). Non-invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium? Prenatal Diagnosis, 1-9. doi: 10.1002/pd.6031 Open Access

Vervoort, L., Dierckxsens, N., Pereboom, Z., Capozzi, O., Rocchi, M., Shaikh, T.H., Vermeesch, J.R. with Vermeesch, J.R. (corresp. author) (2021). 22q11.2 Low Copy Repeats Expanded in the Human Lineage. FRONTIERS IN GENETICS, 12, Art.No. ARTN 706641. doi: 10.3389/fgene.2021.706641 Open Access

van Riel, M., Brison, N., Baetens, M., Blaumeiser, B., Boemer, F., Bourlard, L., Bulk, S., De Leener, A., Desir, J., Devriendt, K., Dheedene, A., Duquenne, A., Fieremans, N., Fieuw, A., Gatot, J-S., Grisart, B., Janssens, S., Khudashvili, N., Lannoo, L., Marichal, A., Meunier, C., Palmeira, L., Parijs, I., Pichon, B., Roets, E., Sammels, E., Smits, G., Suenaert, M., Sznajer, Y., Van den Bogaert, K., Vancoillie, L., Vandeputte, L., Vantroys, E., Vermeesch, J.R., Janssens, K. with Janssens, K. (corresp. author) (2021). Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations. OBSTETRICS AND GYNECOLOGY, 137 (6), 1102-1108. doi: 10.1097/AOG.0000000000004385

Paluoja, P., Teder, H., Ardeshirdavani, A., Bayindir, B., Vermeesch, J., Salumets, A., Krjutškov, K., Palta, P. (2021). Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples. doi: 10.1101/2021.05.27.445941 Open Access

Lenaerts, L., Brison, N., Maggen, C., Vancoillie, L., Che, H., Vandenberghe, P., Dierickx, D., Michaux, L., Dewaele, B., Neven, P., Floris, G., Tousseyn, T., Lannoo, L., Jatsenko, T., Vanden Bempt, I., Van Calsteren, K., Vandecaveye, V., Dehaspe, L., Devriendt, K., Legius, E., Van Den Bogaert, K., Vermeesch, J.R., Amant, F. (2021). Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies. ECLINICALMEDICINE, 35, Art.No. ARTN 100856. doi: 10.1016/j.eclinm.2021.100856 Open Access

Buedts, L., Wlodarska, I., Finalet-Ferreiro, J., Gheysens, O., Dehaspe, L., Tousseyn, T., Fornecker, L-M., Lazarovici, J., Casasnovas, R-O., Gac, A-C., Bonnet, C., Bouabdallah, K., Copie-Bergman, C., Fabiani, B., Dierickx, D., Marcelis, L., Vermeesch, J., Andre, M., Vandenberghe, P. (2021). The landscape of copy number variations in classical Hodgkin lymphoma: a joint KU Leuven and LYSA study on cell-free DNA. BLOOD ADVANCES, 5 (7), 1991-2002. doi: 10.1182/bloodadvances.2020003039 Open Access

Fiksinski, A.M., Bearden, C.E., Bassett, A.S., Kahn, R.S., Zinkstok, J.R., Hooper, S.R., Tempelaar, W., Vorstman, J.A S., Breetvelt, E.J. with Fiksinski, A.M. (corresp. author) (2021). A normative chart for cognitive development in a genetically selected population. NEUROPSYCHOPHARMACOLOGY, 47 (7), 1379-1386. doi: 10.1038/s41386-021-00988-6

Domaradzka, J., Deperas, M., Obersztyn, E., Kucinska-Chahwan, A., Brison, N., Van Den Bogaert, K., Roszkowski, T., Kedzior, M., Bartnik-Glaska, M., Luszczek, A., Jakubow-Durska, K., Vermeesch, J.R., Nowakowska, B.A. with Domaradzka, J. (corresp. author) (2021). A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC). MOLECULAR CYTOGENETICS, 14 (1), Art.No. ARTN 18. doi: 10.1186/s13039-021-00535-4 Open Access

Van den Bogaert, K., Lannoo, L., Brison, N., Gatinois, V., Baetens, M., Blaumeiser, B., Boemer, F., Bourlard, L., Bours, V., De Leener, A., De Rademaeker, M., Desir, J., Dheedene, A., Duquenne, A., Fieremans, N., Fieuw, A., Gatot, J-S., Grisart, B., Janssens, K., Janssens, S., Lederer, D., Marichal, A., Menten, B., Meunier, C., Palmeira, L., Pichon, B., Sammels, E., Smits, G., Sznajer, Y., Vantroys, E., Devriendt, K., Vermeesch, J.R. (2021). Outcome of publicly funded nationwide first-tier noninvasive prenatal screening. GENETICS IN MEDICINE, 23 (6), 1137-1142. doi: 10.1038/s41436-021-01101-4

Masset, H., Tsuiko, O., Vermeesch, J.R. with Vermeesch, J.R. (corresp. author) (2021). Genome-wide abnormalities in embryos: Origins and clinical consequences. PRENATAL DIAGNOSIS, 41 (5), 554-563. doi: 10.1002/pd.5895

Rengifo, L.Y., Smits, S., Buedts, L., Delforge, M., Dehaspe, L., Tousseyn, T., Boeckx, N., Lehnert, S., Michaux, L., Vermeesch, J.R., Vandenberghe, P., Dewaele, B. (2021). Ultra-low coverage whole genome sequencing of ccfDNA in multiple myeloma: A tool for laboratory routine? Cancer Treat Res Commun, 28. doi: 10.1016/j.ctarc.2021.100380 Open Access

Palomaki, G.E., Chiu, R.W K., Pertile, M.D., Sistermans, E.A., Yaron, Y., Vermeesch, J.R., Vora, N.L., Best, R.G., Wilkins-Haug, L. with Palomaki, G.E. (corresp. author) (2020). International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies. PRENATAL DIAGNOSIS, 41 (10), 1222-1232. doi: 10.1002/pd.5832 Open Access

Davies, R., Fiksinski, A., Breetvelt, E., Williams, N., Hooper, S., Monfeuga, T., Bassett, A., Owen, M., Gur, R., Morrow, B., McDonald-McGinn, D., Swillen, A., Chow, E., Vandenbree, M., Emanuel, B., Vermeesch, J., Van Amelsvoort, T., Arango, C., Armando, M., Bearden, C., Vorstman, J., International 22q11.2 Brain and Behavior Consortiu, (contr.) with Davies, R. (joint first author), Fiksinski, A. (joint first author), Vorstman, J. (corresp. author) (2020). Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome. Nature Medicine. doi: 10.1038/s41591-020-1103-1

Linthorst, J., Meert, W., Hestand, M.S., Korlach, J., Vermeesch, J.R., Reinders, M.J T., Holstege, H. with Holstege, H. (corresp. author) (2020). Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain. TRANSLATIONAL PSYCHIATRY, 10 (1), Art.No. ARTN 369. doi: 10.1038/s41398-020-01060-5 Open Access

Aerden, M., Bauters, M., Van Den Bogaert, K., Vermeesch, J.R., Holvoet, M., Plasschaert, F., Devriendt, K. with Devriendt, K. (corresp. author) (2020). Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly. EUROPEAN JOURNAL OF MEDICAL GENETICS, 63 (11), Art.No. ARTN 104009. doi: 10.1016/j.ejmg.2020.104009 Open Access

Tšuiko, O., Fernandez Gallardo, E., Voet, T., Vermeesch, J.R. (2020). PREIMPLANTATION GENETIC TESTING: Single-cell technologies at the forefront of PGT and embryo research. Reproduction, 160 (5), A19-A31. doi: 10.1530/REP-20-0102

Lenaerts, L., Che, H., Brison, N., Neofytou, M., Jatsenko, T., Lefrere, H., Maggen, C., Villela, D., Verheecke, M., Dehaspe, L., Croitor, A., Hatse, S., Wildiers, H., Neven, P., Vandecaveye, V., Floris, G., Vermeesch, J.R., Amant, F. with Amant, F. (corresp. author) (2020). Breast Cancer Detection and Treatment Monitoring Using a Noninvasive Prenatal Testing Platform: Utility in Pregnant and Nonpregnant Populations. CLINICAL CHEMISTRY, 66 (11), 1414-1423. doi: 10.1093/clinchem/hvaa196 Open Access

Franck, S., Barbe, L., Ardui, S., De Vlaeminck, Y., Allemeersch, J., Dziedzicka, D., Spits, C., Vanroye, F., Hilven, P., Duque, G., Vermeesch, J.R., Gheldof, A., Sermon, K. with Sermon, K. (corresp. author) (2020). MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells. HUMAN MOLECULAR GENETICS, 29 (21), 3566-3577. doi: 10.1093/hmg/ddaa250 Open Access

Zhou, B., Shin, G., Greer, S., Vervoort, L., Huang, Y., Pattni, R., Ho, M., Wong, W., Vermeesch, J., Ji, H., Urban, A. (2020). Complete and haplotype-specific sequence assembly of segmental duplication-mediated genome rearrangements using CRISPR-targeted ultra-long read sequencing (CTLR-Seq). doi: 10.1101/2020.10.23.349621

Cristofoli, F., Moss, T., Moore, H.W., Devriendt, K., Flanagan-Steet, H., May, M., Jones, J., Roelens, F., Fons, C., Fernandez, A., Martorell, L., Selicorni, A., Maitz, S., Vitiello, G., Van der Hoeven, G., Skinner, S.A., Bollen, M., Vermeesch, J.R., Steet, R., Van Esch, H. with Steet, R. (corresp. author), Van Esch, H. (corresp. author) (2020). De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. AMERICAN JOURNAL OF HUMAN GENETICS, 107 (4), 753-762. doi: 10.1016/j.ajhg.2020.08.015

Muys, J., Jacquemyn, Y., Blaumeiser, B., Bourlard, L., Brison, N., Bulk, S., Chiarappa, P., De Leener, A., De Rademaeker, M., Desir, J., Destree, A., Devriendt, K., Dheedene, A., Duquenne, A., Fieuw, A., Fransen, E., Gatot, J-S., Jamar, M., Janssens, S., Kerstjens, J., Keymolen, K., Lederer, D., Menten, B., Pichon, B., Rombout, S., Sznajer, Y., Van Den Bogaert, A., Van den Bogaert, K., Vermeesch, J., Janssens, K. with Muys, J. (corresp. author) (2020). Prenatally detected copy number variants in a national cohort: A postnatal follow-up study. PRENATAL DIAGNOSIS, 40 (10), 1272-1283. doi: 10.1002/pd.5751 Open Access

Rengifo, L.Y., Michaux, L., Maertens, J., Tousseyn, T., Lenaerts, L., Vermeesch, J.R., Vandenberghe, P., Dewaele, B. (2020). Noninvasive prenatal testing detected acute myeloid leukemia in paucisymptomatic pregnant patient. CLINICAL CASE REPORTS, 8 (10), 1924-1927. doi: 10.1002/ccr3.3027 Open Access

Buedts, L., Smits, S., Ameye, G., Lehnert, S., Ding, J., Delforge, M., Vermeesch, J., Boeckx, N., Tousseyn, T., Michaux, L., Vandenberghe, P., Dewaele, B. with Vandenberghe, P. (corresp. author) (2020). Ultra-low depth sequencing of plasma cell DNA for the detection of copy number aberrations in multiple myeloma. GENES CHROMOSOMES & CANCER, 59 (8), 465-471. doi: 10.1002/gcc.22848 Open Access

Cosemans, N., Vandenhove, L., Vogels, A., Devriendt, K., Van Esch, H., Van Buggenhout, G., Olivie, H., de Ravel, T., Ortibus, E., Legius, E., Aerssens, P., Breckpot, J., Vermeesch, J.R., Shen, S., Fitzgerald, J., Gallagher, L., Peeters, H. (2020). The clinical relevance of intragenic NRXN1 deletions. JOURNAL OF MEDICAL GENETICS, 57 (5), 347-355. doi: 10.1136/jmedgenet-2019-106448

Gadsboll, K., Petersen, O.B., Gatinois, V., Strange, H., Jacobsson, B., Wapner, R., Vermeesch, J.R., Vogel, I., Shand, A., Nowakowska, B., Peterlin, B., Machtejeviene, E., Sethna, F., Stipoljev, F., Szirko, F., Grati, F.R., Minarik, G., Duncombe, G., Helmer, H., Hardardottir, H., Lebedev, I., Dickinson, J., Melo, J.B., Edwards, L., Hui, L., Srebniak, M., Rodriguez de Alba, M., Vedmedovska, N., Calda, P., Celec, P., Muller, P., Patsalis, P., Popp, R., Liehr, T., Eggebo, T.M., Stefanovic, V., Velissariou, V. (2020). Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation. ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA, 99 (6), 722-730. doi: 10.1111/aogs.13841

Ding, J., Dimitriadou, E., Tsuiko, O., Destouni, A., Melotte, C., Van Den Bogaert, K., Debrock, S., Jatsenko, T., Esteki, M.Z., Voet, T., Peeraer, K., Denayer, E., Vermeesch, J.R. with Vermeesch, J.R. (corresp. author) (2020). Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testing. HUMAN REPRODUCTION, 35 (3), 718-726. doi: 10.1093/humrep/dez285

Levy, J., Capri, Y., Rachid, M., Dupont, C., Vermeesch, J.R., Devriendt, K., Verloes, A., Tabet, A-C., Bailleul-Forestier, I. (2020). LEF1 haploinsufficiency causes ectodermal dysplasia. CLINICAL GENETICS, 97 (4), 595-600. doi: 10.1111/cge.13714

Che, H., Villela, D., Dimitriadou, E., Melotte, C., Brison, N., Neofytou, M., Van den Bogaert, K., Tsuiko, O., Devriendt, K., Legius, E., Esteki, M.Z., Voet, T., Vermeesch, J.R. with Vermeesch, J.R. (corresp. author) (2020). Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA. GENETICS IN MEDICINE, 22 (5), 962-973. doi: 10.1038/s41436-019-0748-y Open Access

Cleynen, I., Engchuan, W., Hestand, M.S., Heung, T., Holleman, A.M., Johnston, H.R., Monfeuga, T., McDonald-McGinn, D.M., Gur, R.E., Morrow, B.E., Swillen, A., Vorstman, J.A S., Bearden, C.E., Chow, E.W C., van den Bree, M., Emanuel, B.S., Vermeesch, J.R., Warren, S.T., Owen, M.J., Chopra, P., Cutler, D.J., Duncan, R., Kotlar, A., Mulle, J.G., Voss, A.J., Zwick, M.E., Diacou, A., Golden, A., Guo, T., Lin, J-R., Wang, T., Zhang, Z., Zhao, Y., Marshall, C., Merico, D., Jin, A., Lilley, B., Salmons, H., Oanh, T., Holmans, P., Pardinas, A., Walters, J.T R., Demaerel, W., Boot, E., Butcher, N.J., Costain, G.A., Lowther, C., Evers, R., van Amelsvoort, T.A M J., van Duin, E., Vingerhoets, C., Breckpot, J., Devriendt, K., Vergaelen, E., Vogels, A., Crowley, T.B., McGinn, D.E., Moss, E.M., Sharkus, R.J., Unolt, M., Zackai, E.H., Calkins, M.E., Gallagher, R.S., Gur, R.C., Tang, S.X., Fritsch, R., Ornstein, C., Repetto, G.M., Breetvelt, E., Duijff, S.N., Fiksinski, A., Moss, H., Niarchou, M., Murphy, K.C., Prasad, S.E., Daly, E.M., Gudbrandsen, M., Murphy, C.M., Murphy, D.G., Buzzanca, A., Di Fabio, F., Digilio, M.C., Pontillo, M., Marino, B., Vicari, S., Coleman, K., Cubells, J.F., Ousley, O.Y., Carmel, M., Gothelf, D., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Weizman, A., Kushan, L., Jalbrzikowski, M., Armando, M., Eliez, S., Sandini, C., Schneider, M., Bena, F.S., Antshel, K.M., Fremont, W., Kates, W.R., Belzeaux, R., Busa, T., Philip, N., Campbell, L.E., McCabe, K.L., Hooper, S.R., Schoch, K., Shashi, V., Simon, T.J., Tassone, F., Arango, C., Fraguas, D., Garcia-Minaur, S., Morey-Canyelles, J., Rosell, J., Suner, D.H., Raventos-Simic, J., Epstein, M.P., Williams, N.M., Bassett, A.S. with Cleynen, I. (joint first author), Engchuan, W. (joint first author), Hestand, M.S. (joint first author), Heung, T. (joint first author), Holleman, A.M. (joint first author), Johnston, H.R. (joint first author), Monfeuga, T. (joint first author), Epstein, M.P. (joint last author), Williams, N.M. (joint last author), Bassett, A.S. (joint last author) (2020). Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Molecular Psychiatry, 1-15. doi: 10.1038/s41380-020-0654-3 Open Access

Unolt, M., Kammoun, M., Nowakowska, B., Graham, G.E., Crowley, T.B., Hestand, M.S., Demaerel, W., Geremek, M., Emanuel, B.S., Zackai, E.H., Vermeesch, J.R., McDonald-McGinn, D. (2020). Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition. GENETICS IN MEDICINE, 22 (2), 326-335. doi: 10.1038/s41436-019-0645-4 Open Access

Zhao, Y., Diacou, A., Johnston, H.R., Musfee, F.I., McDonald-McGinn, D.M., McGinn, D., Crowley, T.B., Repetto, G.M., Swillen, A., Breckpot, J., Vermeesch, J.R., Kates, W.R., Digilio, M.C., Unolt, M., Marino, B., Pontillo, M., Armando, M., Di Fabio, F., Vicari, S., van den Bree, M., Moss, H., Owen, M.J., Murphy, K.C., Murphy, C.M., Murphy, D., Schoch, K., Shashi, V., Tassone, F., Simon, T.J., Shprintzen, R.J., Campbell, L., Philip, N., Heine-Suner, D., Garcia-Minaur, S., Fernandez, L., Bearden, C.E., Vingerhoets, C., van Amelsvoort, T., Eliez, S., Schneider, M., Vorstman, J.A S., Gothelf, D., Zackai, E., Agopian, A.J., Gur, R.E., Bassett, A.S., Emanuel, B.S., Goldmuntz, E., Mitchell, L.E., Wang, T., Morrow, B.E. (2020). Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. AMERICAN JOURNAL OF HUMAN GENETICS, 106 (1), 26-40. doi: 10.1016/j.ajhg.2019.11.010 Open Access

Brison, N., Storms, J., Villela, D., Claeys, K.G., Dehaspe, L., de Ravel, T., De Waele, L., Goemans, N., Legius, E., Peeters, H., Van Esch, H., Race, V., Vermeesch, J.R., Devriendt, K., Van den Bogaert, K. (2019). Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening. GENETICS IN MEDICINE, 21 (12), 2774-2780. doi: 10.1038/s41436-019-0564-4 Open Access

Lenaerts, L., Jatsenko, T., Amant, F., Vermeesch, J.R. (2019). Noninvasive Prenatal Testing and Detection of Occult Maternal Malignancies. CLINICAL CHEMISTRY, 65 (12), 1484-1486. doi: 10.1373/clinchem.2019.306548 Open Access

van Rooij, I.A L M., Ludwig, K.U., Welzenbach, J., Ishorst, N., Thonissen, M., Galesloot, T.E., Ongkosuwito, E., Berge, S.J., Aldhorae, K., Rojas-Martinez, A., Kiemeney, L.A L M., Vermeesch, J.R., Brunner, H., Roeleveld, N., Devriendt, K., Dormaar, T., Hens, G., Knapp, M., Carels, C., Mangold, E. (2019). Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene. GENES, 10 (12), Art.No. ARTN 1023. doi: 10.3390/genes10121023 Open Access

Cheng, H., Capponi, S., Wakeling, E., Marchi, E., Li, Q., Zhao, M., Weng, C., Stefan, P.G., Ahlfors, H., Kleyner, R., Rope, A., Lumaka, A., Lukusa, P., Devriendt, K., Vermeesch, J., Posey, J.E., Palmer, E.E., Murray, L., Leon, E., Diaz, J., Worgan, L., Mallawaarachchi, A., Vogt, J., de Munnik, S.A., Dreyer, L., Baynam, G., Ewans, L., Stark, Z., Lunke, S., Goncalves, A.R., Soares, G., Oliveira, J., Fassi, E., Willing, M., Waugh, J.L., Faivre, L., Riviere, J-B., Moutton, S., Mohammed, S., Payne, K., Walsh, L., Begtrup, A., Sacoto, M.J G., Douglas, G., Alexander, N., Buckley, M.F., Mark, P.R., Ades, L.C., Sandaradura, S.A., Lupski, J.R., Roscioli, T., Agrawal, P.B., Kline, A.D., Wang, K., Timmers, H.T M., Lyon, G.J. (2019). Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. HUMAN MUTATION, 41 (2), 449-464. doi: 10.1002/humu.23936

Vervoort, L., Demaerel, W., Rengifo, L.Y., Odrzywolski, A., Vergaelen, E., Hestand, M.S., Breckpot, J., Devriendt, K., Swillen, A., McDonald-McGinn, D.M., Fiksinski, A.M., Zinkstok, J.R., Morrow, B.E., Heung, T., Vorstman, J.A S., Bassett, A.S., Chow, E.W C., Shashi, V., Vermeesch, J.R. with Vervoort, L. (joint first author), Demaerel, W. (joint first author) (2019). Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins. HUMAN MOLECULAR GENETICS, 28 (22), 3724-3733. doi: 10.1093/hmg/ddz166 Open Access

Zilina, O., Rekker, K., Kaplinski, L., Sauk, M., Paluoja, P., Teder, H., Ustav, E-L., Tonisson, N., Reimand, T., Ridnoi, K., Palta, P., Vermeesch, J.R., Krjutskov, K., Kurg, A., Salumets, A. (2019). Creating basis for introducing non-invasive prenatal testing in the Estonian public health setting. PRENATAL DIAGNOSIS, 39 (13), 1262-1268. doi: 10.1002/pd.5578

Frints, S.G M., Ozanturk, A., Rodriguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., Manouvrier-Hanu, S., Hickey, S.E., Kammoun, M., Gripp, K.W., Bauer, C., Schroeder, C., Toutain, A., Mosher, T.M., Kelly, B.J., White, P., Dufke, A., Rentmeester, E., Moon, S., Koboldt, D.C., van Roozendaal, K.E P., Hu, H., Haas, S.A., Ropers, H-H., Murray, L., Haan, E., Shaw, M., Carroll, R., Friend, K., Liebelt, J., Hobson, L., De Rademaeker, M., Geraedts, J., Fryns, J-P., Vermeesch, J., Raynaud, M., Riess, O., Gribnau, J., Katsanis, N., Devriendt, K., Bauer, P., Gecz, J., Golzio, C., Gontan, C., Kalscheuer, V.M. (2019). Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. MOLECULAR PSYCHIATRY, 24 (11), 1748-1768. doi: 10.1038/s41380-018-0065-x

Van Elslande, J., Brison, N., Vermeesch, J.R., Devriendt, K., Van den Bogaert, K., Legius, E., Van Ranst, M., Vermeersch, P., Billen, J. with Vermeersch, P. (joint last author), Billen, J. (joint last author) (2019). The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium. CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 57 (11), E294-E297. doi: 10.1515/cclm-2019-0231 Open Access

Zamani Esteki, M., Viltrop, T., Tsuiko, O., Tiirats, A., Koel, M., Noukas, M., Zilina, O., Teearu, K., Marjonen, H., Kahila, H., Meekels, J., Soderstrom-Anttila, V., Suikkari, A-M., Tiitinen, A., Magi, R., Koks, S., Kaminen-Ahola, N., Kurg, A., Voet, T., Vermeesch, J.R., Salumets, A. with Voet, T. (joint last author), Vermeesch, J.R. (joint last author), Salumets, A. (joint last author), Zamani Esteki, M. (corresp. author), Voet, T. (corresp. author), Vermeesch, J.R. (corresp. author), Salumets, A. (corresp. author) (2019). In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages. NATURE MEDICINE, 25 (11), 1699-1705. doi: 10.1038/s41591-019-0620-2

Lenaerts, L., Tuveri, S., Jatsenko, T., Amanta, F., Vermeesch, J.R. with Lenaerts, L. (corresp. author), Vermeesch, J.R. (corresp. author) (2019). Detection of incipient tumours by screening of circulating plasma DNA: hype or hope? ACTA CLINICA BELGICA, 75 (1), 9-18. doi: 10.1080/17843286.2019.1671653 Open Access

Demaerel, W., Mostovoy, Y., Yilmaz, F., Vervoort, L., Pastor, S., Hestand, M.S., Swillen, A., Vergaelen, E., Geiger, E.A., Coughlin, C.R., Chow, S.K., McDonald-McGinn, D., Morrow, B., Kwok, P-Y., Xiao, M., Emanuel, B.S., Shaikh, T.H., Vermeesch, R-I.R. (2019). The 22q11 low copy repeats are characterized by unprecedented size and structural variability. GENOME RESEARCH, 29 (9), 1389-1401. doi: 10.1101/gr.248682.119 Open Access

Lenaerts, L., Van Calsteren, K., Che, H., Vermeesch, J.R., Amant, F. (2019). Pregnant women with confirmed neoplasms should not have noninvasive prenatal testing. PRENATAL DIAGNOSIS, 39 (12), 1162-1165. doi: 10.1002/pd.5544 Open Access

Masset, H., Esteki, M.Z., Dimitriadou, E., Dreesen, J., Debrock, S., Derhaag, J., Derks, K., Destouni, A., Drusedau, M., Meekels, J., Melotte, C., Peeraer, K., Tsuiko, O., van Uum, C., Allemeersch, J., Devogelaere, B., Francois, K.O., Happe, S., Lorson, D., Richards, R.L., Theuns, J., Brunner, H., de Die-Smulders, C., Voet, T., Paulussen, A., Coonen, E., Vermeesch, J.R. with Vermeesch, J.R. (corresp. author) (2019). Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing. HUMAN REPRODUCTION, 34 (8), 1608-1619. doi: 10.1093/humrep/dez106

Villela, D., Che, H., Van Ghelue, M., Dehaspe, L., Brison, N., Van Den Bogaert, K., Devriendt, K., Lewi, L., Bayindir, B., Vermeesch, J.R. (2019). Fetal sex determination in twin pregnancies using non-invasive prenatal testing. NPJ GENOMIC MEDICINE, 4, Art.No. ARTN 15. doi: 10.1038/s41525-019-0089-4 Open Access

Masoumi, Z., Maes, G.E., Herten, K., Cortes-Calabuig, A., Alattar, A.G., Hanson, E., Erlandsson, L., Mezey, E., Magnusson, M., Vermeesch, J.R., Familari, M., Hansson, S.R. (2019). Preeclampsia is Associated with Sex-Specific Transcriptional and Proteomic Changes in Fetal Erythroid Cells. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 20 (8), Art.No. ARTN 2038. doi: 10.3390/ijms20082038 Open Access

Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Cross, J.H., Deconinck, T., De Masi, S., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J.R., Lucenteforte, E., Madia, F., Mefford, H.C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A-S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J.R., Van Esch, H., Van Paesschen, W., Waters, J.J., Weckhuysen, S., Zara, F., Jonghe, P.D., Sisodiya, S.M., Marini, C., Lehesjioki, A-E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R.S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E.C., Chiari, S., Clementella, C., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Mari, F., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O. with Sisodiya, S.M. (corresp. author), Marini, C. (corresp. author) (2019). Diagnostic implications of genetic copy number variation in epilepsy plus. EPILEPSIA, 60 (4), 689-706. doi: 10.1111/epi.14683 Open Access

Wells, D., Vermeesch, J.R., Simpson, J.L. (2019). Current Controversies in Prenatal Diagnosis 3: Gene editing should replace embryo selection following PGD. PRENATAL DIAGNOSIS, 39 (5), 344-350. doi: 10.1002/pd.5442

Tsuiko, O., Jatsenko, T., Parameswaran Grace, L.K., Kurg, A., Vermeesch, J., Lanner, F., Altmae, S., Salumets, A. (2019). A speculative outlook on embryonic aneuploidy: can molecular pathways be involved? Developmental Biology, 447 (1), 3-13. doi: 10.1016/j.ydbio.2018.01.014 Open Access

Costain, G., Walker, S., Argiropoulos, B., Baribeau, D.A., Bassett, A.S., Boot, E., Devriendt, K., Kellam, B., Marshall, C.R., Prasad, A., Serrano, M.A., Stavropoulos, D.J., Twede, H., Vermeesch, J.R., Vorstman, J.A S., Scherer, S.W. (2019). Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. JOURNAL OF NEURODEVELOPMENTAL DISORDERS, 11, Art.No. ARTN 3. doi: 10.1186/s11689-019-9263-3 Open Access

Lenaerts, L., Vandenberghe, P., Brison, N., Che, H., Neofytou, M., Verheecke, M., Leemans, L., Maggen, C., Dewaele, B., Dehaspe, L., Vanderschueren, S., Dierickx, D., Vandecaveye, V., Amant, F., Vermeesch, J.R. with Amant, F. (corresp. author), Vermeesch, J.R. (corresp. author) (2019). Genomewide copy number alteration screening of circulating plasma DNA: potential for the detection of incipient tumors. ANNALS OF ONCOLOGY, 30 (1), 85-95. doi: 10.1093/annonc/mdy476 Open Access Zablotskaya, A., Van Esch, H., Verstrepen, K.J., Froyen, G., Vermeesch, J.R. (2018). Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability. BMC MEDICAL GENOMICS, 11, Art.No. ARTN 123. doi: 10.1186/s12920-018-0446-7 Open Access

Muys, J., Blaumeiser, B., Jacquemyn, Y., Bandelier, C., Brison, N., Bulk, S., Chiarappa, P., Courtens, W., De Leener, A., De Rademaeker, M., Desir, J., Destree, A., Devriendt, K., Dheedene, A., Fieuw, A., Fransen, E., Gatot, J-S., Holmgren, P., Jamar, M., Janssens, S., Keymolen, K., Lederer, D., Menten, B., Meuwissen, M., Parmentier, B., Pichon, B., Rombout, S., Sznajer, Y., Van Den Bogaert, A., Van Den Bogaert, K., Vanakker, O., Vermeesch, J., Janssens, K. (2018). The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations. PRENATAL DIAGNOSIS, 38 (13), 1120-1128. doi: 10.1002/pd.5373 Open Access

Destouni, A., Dimitriadou, E., Masset, H., Debrock, S., Melotte, C., Van den Bogaert, K., Esteki, M.Z., Ding, J., Voet, T., Denayer, E., de Ravel, T., Legius, E., Meuleman, C., Peeraer, K., Vermeesch, J.R. (2018). Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M. HUMAN REPRODUCTION, 33 (12), 2302-2311. doi: 10.1093/humrep/dey325 Open Access

Kalbfleisch, T.S., Rice, E.S., DePriest, M.S J., Walenz, B.P., Hestand, M.S., Vermeesch, J., O'Connell, B.L., Fiddes, I.T., Verschinina, A.O., Saremi, N.F., Petersen, J.L., Finno, C.J., Bellone, R.R., McCue, M.E., Brooks, S.A., Bailey, E., Orlando, L., Green, R.E., Antczak, D.F., MacLeod, J.N. with Kalbfleisch, T.S. (joint first author), Rice, E.S. (joint first author), Kalbfleisch, T.S. (corresp. author) (2018). Improved reference genome for the domestic horse increases assembly contiguity and composition. Communications Biology, 1, 197-197. doi: 10.1038/gim.2017.221 Open Access

Zhao, Y., Guo, T., Fiksinski, A., Breetvelt, E., McDonald-McGinn, D.M., Crowley, T.B., Diacou, A., Schneider, M., Eliez, S., Swillen, A., Breckpot, J., Vermeesch, J., Chow, E.W C., Gothelf, D., Duijff, S., Evers, R., van Amelsvoort, T.A., van den Bree, M., Owen, M., Niarchou, M., Bearden, C.E., Ornstein, C., Pontillo, M., Buzzanca, A., Vicari, S., Armando, M., Murphy, K.C., Murphy, C., Garcia-Minaur, S., Philip, N., Campbell, L., Morey-Canellas, J., Raventos, J., Rosell, J., Heine-Suner, D., Shprintzen, R.J., Gur, R.E., Zackai, E., Emanuel, B.S., Wang, T., Kates, W.R., Bassett, A.S., Vorstman, J.A S., Morrow, B.E. (2018). Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 176 (10), 2172-2181. doi: 10.1002/ajmg.a.40359

Morrow, B.E., McDonald-McGinn, D.M., Emanuel, B.S., Vermeesch, J.R., Scambler, P.J. (2018). Molecular genetics of 22q11.2 deletion syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 176 (10), 2070-2081. doi: 10.1002/ajmg.a.40504

Dastidar, S., Ardui, S., Singh, K., Majumdar, D., Nair, N., Fu, Y., Reyon, D., Samara, E., Gerli, M.F M., Klein, A.F., De Schrijver, W., Tipanee, J., Seneca, S., Tulalamba, W., Wang, H., Chai, Y.C., Veld, P.I., Furling, D., Tedesco, F.S., Vermeesch, J.R., Joung, J.K., Chuah, M.K., VandenDriessche, T. with Chuah, M.K. (corresp. author), VandenDriessche, T. (corresp. author) (2018). Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells. NUCLEIC ACIDS RESEARCH, 46 (16), 8275-8298. doi: 10.1093/nar/gky548 Open Access

Lumaka, A., Race, V., Peeters, H., Corveleyn, A., Coban-Akdemir, Z., Jhangiani, S.N., Song, X., Mubungu, G., Posey, J., Lupski, J.R., Vermeesch, J.R., Lukusa, P., Devriendt, K. (2018). A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 176 (9), 1897-1909. doi: 10.1002/ajmg.a.40382 Open Access

Kammoun, M., Souche, E., Brady, P., Ding, J., Cosemans, N., Gratacos, E., Devriendt, K., Eixarch, E., Deprest, J., Vermeesch, J.R. with Vermeesch, J.R. (corresp. author) (2018). Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing. PRENATAL DIAGNOSIS, 38 (9), 654-663. doi: 10.1002/pd.5327

Brison, N., Dehaspe, L., Vermeesch, J.R. (2018). Response to a comment on "Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing". PRENATAL DIAGNOSIS, 38 (9), 722-723. doi: 10.1002/pd.5285

Cristofoli, F., Devriendt, K., Davis, E.E., Van Esch, H., Vermeesch, J. (2018). Novel CASK mutations in cases with syndromic microcephaly. Human Mutation, 39 (7), 993-1001. doi: 10.1002/humu.23536

Ardui, S., Race, V., de Ravel, T., Van Esch, H., Devriendt, K., Matthijs, G., Vermeesch, J.R. (2018). Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience. FRONTIERS IN GENETICS, 9, Art.No. ARTN 150. doi: 10.3389/fgene.2018.00150 Open Access

Thygesen, J.H., Wolfe, K., McQuillin, A., Viñas-Jornet, M., Baena, N., Brison, N., D'Haenens, G., Esteba-Castillo, S., Gabau, E., Ribas-Vidal, N., Ruiz, A., Vermeesch, J., Weyts, E., Novell, R., Buggenhout, G.V., Strydom, A., Bass, N., Guitart, M., Vogels, A. (2018). Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders. British Journal of Psychiatry, 212 (5), 287-294. doi: 10.1192/bjp.2017.65 Open Access

Guo, T., Diacou, A., Hiroko, N., McDonald-McGinn, D.M., Hestand, M., Demaerel, W., Zhang, L., Zhao, Y., Ujueta, F., Shan, J., Montagna, C., Zheng, D., Crowley, T.B., Kushan-Wells, L., Bearden, C.E., Kates, W.R., Gothelf, D., Schneider, M., Eliez, S., Breckpot, J., Swillen, A., Vorstman, J., Zackai, E., Benavides, F.G., Repetto, G.M., Emanuel, B.S., Bassett, A.S., Vermeesch, J., Marshall, C.R., Morrow, B.E. (2018). Deletion size analysis of 1,680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2. Human Molecular Genetics, 27 (7), Art.No. 10.1093/hmg/ddy028, 1150-1163. doi: 10.1093/hmg/ddy028 Open Access

Sauk, M., Žilina, O., Kurg, A., Ustav, E-L., Peters, M., Paluoja, P., Roost, A.M., Teder, H., Palta, P., Brison, N., Vermeesch, J., Krjutškov, K., Salumets, A., Kaplinski, L. (2018). NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies. Scientific Reports, 8 (1), Art.No. 10.1038/s41598-018-23589-8. Open Access

Kammoun, M., Brady, P., De Catte, L., Deprest, J., Devriendt, K., Vermeesch, J. (2018). Congenital diaphragmatic hernia as a part of Nance-Horan syndrome? European Journal of Human Genetics, 26 (3), Art.No. 10.1038/s41431-017-0032-z, 359-366.

Brison, N., Neofytou, M., Dehaspe, L., Bayindir, B., Van Den Bogaert, K., Dardour, L., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., de Ravel de l'Argentière, T., Legius E, E., Devriendt, K. (2018). Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing. Prenatal Diagnosis, 38 (4), 258-266. doi: 10.1002/pd.5223 Open Access

Frans, G., Meert, W., Van der Werff Ten Bosch, J., Meyts, I., Bossuyt, X., Vermeesch, J., Hestand, M. (2018). Conventional and single-molecule targeted sequencing method for specific variant detection in IKBKG whilst bypassing the IKBKGP1 pseudogene. The Journal of Molecular Diagnostics, 20 (2), Art.No. S1525-1578(17)30359-8, 195-202. Open Access

Ardui, S., Ameur, A., Vermeesch, J., Hestand, M. with Hestand, M. (corresp. author) (2018). Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics. Nucleic Acids Research, 46 (5), 2159-2168. doi: 10.1093/nar/gky066 Open Access

Frans, G., Van der Werff Ten Bosch, J., Moens, L., Wuyts, G., Schaballie, H., Tuerlinckx, D., De Bie, M., Vermeulen, F., Schrijvers, R., Meert, W., Hestand, M.S., Delanghe, J., Vermeesch, J.R., Meyts, I., Bossuyt, X. (2018). Clinical characteristics of patients with low functional IL-6 production upon TLR/IL-1R stimulation. Journal of Allergy and Clinical Immunology, 141 (2), Art.No. S0091-6749(17)30738-8, 768-770. Open Access

Van den Eynden, J., Descamps, T., Delporte, E., Roosens, N.H C., De Keersmaecker, S.C J., De Wit, V., Vermeesch, J., Goetghebeur, E., Tafforeau, J., Demarest, S., Van Den Bulcke, M., Van Oyen, H. (2018). The genetic structure of the Belgian population. Human Genomics, 12 (1), Art.No. 10.1186/s40246-018-0136-8. doi: 10.1186/s40246-018-0136-8 Open Access

Harper, J.C., Aittomäki, K., Borry, P., Cornel, M.C., de Wert, G., Dondorp, W., Geraerdts, J., Gianaroli, L., Ketterson, K., Liebaers, I., Lundin, K., Mertes, H., Morris, M., Pennings, G., Sermon, K., Spits, C., Soini, S., van Montfoort, A.P A., Veiga, A., Vermeesch, J., Viville, S., Macek, M. (2018). Recent developments in genetics and medically assisted reproduction: from research to clinical applications. European Journal of Human Genetics, 26 (1), Art.No. 10.1038/s41431-017-0016-z, 12-33. Open Access

Neofytou, M., Brison, N., Van Den Bogaert, K., Dehaspe, L., Devriendt, K., Geerts, A., Vermeesch, J. (2018). Maternal liver transplant: another cause of discordant fetal sex determination using cell free DNA. Prenatal Diagnosis, 38 (2), Art.No. 10.1002/pd.5194, 148-150. Open Access

Cosemans, N., Claes, P., Brison, N., Vermeesch, J., Peeters, H. (2018). Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios. Statistical Applications in Genetics and Molecular Biology, 17 (2), Art.No. ARTN 20170026. doi: 10.1515/sagmb-2017-0026 Open Access

Imbert-Bouteille, M., Chiesa, J., Gaillard, J-B., Dorvaux, V., Altounian, L., Gatinois, V., Mousty, E., Finge, S., Bourquard, P., Vermeesch, J., Legius, E., Vandenberghe, P. (2017). An Incidental Finding of Maternal Multiple Myeloma by Non Invasive Prenatal Testing. Prenatal Diagnosis, 37 (12), 1257-1260. doi: 10.1002/pd.5168 Open Access

Bassett, A.S., Lowther, C., Merico, D., Costain, G., Chow, E.W C., van Amelsvoort, T., McDonald-McGinn, D., Gur, R.E., Swillen, A., Van den Bree, M., Murphy, K., Gothelf, D., Bearden, C.E., Eliez, S., Kates, W., Philip, N., Sashi, V., Campbell, L., Vorstman, J., Cubells, J., Repetto, G.M., Simon, T., Boot, E., Heung, T., Evers, R., Vingerhoets, C., van Duin, E., Zackai, E., Vergaelen, E., Devriendt, K., Vermeesch, J.R., Owen, M., Murphy, C., Michaelovosky, E., Kushan, L., Schneider, M., Fremont, W., Busa, T., Hooper, S., McCabe, K., Duijff, S., Isaev, K., Pellecchia, G., Wei, J., Gazzellone, M.J., Scherer, S.W., Emanuel, B.S., Guo, T., Morrow, B.E., Marshall, C.R. (2017). Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. AMERICAN JOURNAL OF PSYCHIATRY, 174 (11), 1054-1063. doi: 10.1176/appi.ajp.2017.16121417

Tšuiko, O., Catteeuw, M., Zamani Esteki, M., Destouni, A., Bogado Pascottini, O., Besenfelder, U., Havlicek, V., Smits, K., Kurg, A., Salumets, A., D'Hooghe, T., Voet, T., Van Soom, A., Vermeesch, J.R. with Tšuiko, O. (joint first author), Catteeuw, M. (joint first author), Zamani Esteki, M. (joint first author), Vermeesch, J.R. (corresp. author) (2017). Genome stability of bovine in vivo-conceived cleavage-stage embryos is higher compared to in vitro-produced embryos. Human Reproduction, 32 (11), 2348-2357. doi: 10.1093/humrep/dex286 Cristofoli, F., De Keersmaecker, B., De Catte, L., Vermeesch, J., Van Esch, H. (2017). Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening. Molecular Syndromology, 8 (6), Art.No. 10.1159/000479666, 282-293.

Demaerel, W., Hestand, M.S., Vergaelen, E., Swillen, A., López-Sánchez, M., Pérez-Jurado, L.A., McDonald-McGinn, D.M., Zackai, E., Emanuel, B.S., Morrow, B.E., Breckpot, J., Devriendt, K., Vermeesch, J. (2017). Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. American Journal of Human Genetics, 101 (4), 616-622. doi: 10.1016/j.ajhg.2017.09.002

Guo, T., Repetto, G.M., McDonald McGinn, D.M., Chung, J.H., Nomaru, H., Campbell, C.L., Blonska, A., Bassett, A.S., Chow, E.W C., Mlynarski, E.E., Swillen, A., Vermeesch, J., Devriendt, K., Gothelf, D., Carmel, M., Michaelovsky, E., Schneider, M., Eliez, S., Antonarakis, S.E., Coleman, K., Tomita-Mitchell, A., Mitchell, M.E., Digilio, M.C., Dallapiccola, B., Marino, B., Philip, N., Busa, T., Kushan-Wells, L., Bearden, C.E., Piotrowicz, M., Hawuła, W., Roberts, A.E., Tassone, F., Simon, T.J., van Duin, E.D A., van Amelsvoort, T.A., Kates, W.R., Zackai, E., Johnston, H.R., Cutler, D.J., Agopian, A.J., Goldmuntz, E., Mitchell, L.E., Wang, T., Emanuel, B.S., Morrow, B.E. (2017). Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circulation: Cardiovascular Genetics, 10 (5), Art.No. e001690. Open Access

Gur, R.E., Bassett, A.S., McDonald-McGinn, D.M., Bearden, C.E., Chow, E., Emanuel, B.S., Owen, M., Swillen, A., Van den Bree, M., Vermeesch, J., Vorstman, J.A S., Warren, S., Lehner, T., Morrow, B. (2017). A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium. Molecular Psychiatry, 22 (12), Art.No. 10.1038/mp.2017.161, 1664-1672.

Reggiani, C., Coppens, S., Sekhara, T., Dimov, I., Pichon, B., Lufin, N., Addor, M-C., Belligni, E.F., Digilio, M.C., Faletra, F., Ferrero, G.B., Gerard, M., Isidor, B., Joss, S., Niel-Bütschi, F., Perrone, M.D., Petit, F., Renieri, A., Romana, S., Topa, A., Vermeesch, J.R., Lenaerts, T., Casimir, G., Abramowicz, M., Bontempi, G., Vilain, C., Deconinck, N., Smits, G. (2017). Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability. Genome Medicine, 9 (1), Art.No. 10.1186/s13073-017-0452-y. Open Access

Novara, F., Rinaldi, B., Sisodiya, S.M., Coppola, A., Giglio, S., Stanzial, F., Benedicenti, F., Donaldson, A., Andrieux, J., Stapleton, R., Weber, A., Reho, P., van Ravenswaaij-Arts, C., Kerstjens-Frederikse, W.S., Vermeesch, J., Devriendt, K., Bacino, C.A., Delahaye, A., Maas, S.M., Iolascon, A., Zuffardi, O. (2017). Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. European Journal of Human Genetics, 25 (6), Art.No. 10.1038/ejhg.2017.49, 694-701.

Dumetz, F., Imamura, H., Sanders, M., Seblova, V., Myskova, J., Pescher, P., Vanaerschot, M., Meehan, C.J., Cuypers, B., De Muylder, G., Späth, G.F., Bussotti, G., Vermeesch, J., Berriman, M., Cotton, J.A., Volf, P., Dujardin, J.C., Domagalska, M.A. (2017). Modulation of Aneuploidy in Leishmania donovani during Adaptation to Different In Vitro and In Vivo Environments and Its Impact on Gene Expression. mBio, 8 (3), Art.No. e00599-17. doi: 10.1128/mBio.00599-17 Open Access

Destouni, A., Vermeesch, J. (2017). How can zygotes segregate entire parental genomes into distinct blastomeres? The zygote metaphase revisited. BioEssays, 39 (4), Art.No. 10.1002/bies.201600226.

Brison, N., Van Den Bogaert, K., Dehaspe, L., van den Oever, J.M E., Janssens, K., Blaumeiser, B., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., de Ravel de l'Argentière, T., Legius, E., Devriendt, K., Vermeesch, J. (2017). Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies. Genetics in Medicine, 19 (3), 306-313. doi: 10.1038/gim.2016.113

Dimitriadou, E., Melotte, C., Debrock, S., Zamani Esteki, M., Dierickx, K., Voet, T., Devriendt, K., de Ravel, T., Legius, E., Peeraer, K., Meuleman, C., Vermeesch, J. (2017). Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos. Human Reproduction, 32 (3), Art.No. 10.1093/humrep/dex011, 687-697. Open Access

Ardui, S., Race, V., Zablotskaya, A., Hestand, M., Van Esch, H., Devriendt, K., Matthijs, G., Vermeesch, J. (2017). Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing. Human Mutation, 38 (3), Art.No. 10.1002/humu.23150, 324-331. Open Access

Sermon, K.D., Spits, C., Mertzanidou, A., Vermeesch, J., Fiorentino, F. (2017). Detecting mosaicism in trophectoderm biopsies. Human Reproduction, 32 (3), Art.No. 10.1093/humrep/dew346, 712-713.

Sermon, K.D., Spits, C., Mertzanidou, A., Vermeesch, J.R., Fiorentino, F. with Sermon, K.D. (corresp. author) (2017). Reply: Detecting mosaicism in trophectoderm biopsies. HUMAN REPRODUCTION, 32 (3), 713-714. doi: 10.1093/humrep/dew347

Voet, T., Vermeesch, J. with Voet, T. (corresp. author), Vermeesch, J. (corresp. author) (2017). Mutational Processes Shaping the Genome in Early Human Embryos. Cell, 168 (5), 751-753. doi: 10.1016/j.cell.2017.02.008

Harper, J.C., Aittomäki, K., Borry, P., Cornel, M.C., de Wert, G., Dondorp, W., Geraedts, J., Gianaroli, L., Ketterson, K., Liebaers, I., Lundin, K., Mertes, H., Morris, M., Pennings, G., Sermon, K., Spits, C., Soini, S., van Montfoort, A.P A., Veiga, A., Vermeesch, J.R., Viville, S., Macek, M., European Society of Human Reproduction and Embryol, (2017). Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡. Hum Reprod Open, 2017 (3). doi: 10.1093/hropen/hox015

Evans, M.I., Vermeesch, J. (2016). Current controversies in prenatal diagnosis 3: Industry drives innovation in research and clinical application of genetic prenatal diagnosis and screening. Prenatal Diagnosis, 36 (13), Art.No. 10.1002/pd.4967, 1172-1177. Open Access

Breckpot, J., Vercruyssen, M., Weyts, E., Vandevoort, S., D'Haenens, G., Van Buggenhout, G., Leempoels, L., Brischoux-Boucher, E., Van Maldergem, L., Renieri, A., Mencarelli, M.A., D'Angelo, C., Mericq, V., Hoffer, M.J., Tauber, M., Castiglioni, C., Brison, N., Vermeesch, J., Danckaerts, M., Sienaert, P., Devriendt, K., Vogels, A. (2016). Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. European Journal of Medical Genetics, 59 (9), Art.No. S1769-7212(16)30125-2. Open Access

Guo, X., Delio, M., Haque, N., Castellanos, R., Hestand, M.S., Vermeesch, J., Morrow, B.E., Zheng, D. (2016). Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis. Human Molecular Genetics, 25 (17), Art.No. ddw221, 3754-3767.

Vermeesch, J., Voet, T., Devriendt, K. (2016). Prenatal and pre-implantation genetic diagnosis. Nature Reviews. Genetics, 17 (10), Art.No. 10.1038/nrg.2016.97. Fieremans, N., Van Esch, H., Holvoet, M., Van Goethem, G., Devriendt, K., Rosello, M., Mayo, S., Martinez, F., Jhangiani, S., Muzny, D.M., Gibbs, R.A., Lupski, J.R., Vermeesch, J.R., Marynen, P., Froyen, G. (2016). Identification of Intellectual Disability Genes in Female Patients with A Skewed X Inactivation Pattern. Human Mutation, 37 (8), Art.No. 10.1002/humu.23012, 804-811. Schuring-Blom, H., Lichtenbelt, K., van Galen, K., Elferink, M., Weiss, M., Vermeesch, J., Page-Christiaens, L. (2016). Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy. Prenatal Diagnosis, 36 (8), Art.No. 10.1002/pd.4863.

Sermon, K., Capalbo, A., Cohen, J., Coonen, E., De Rycke, M., De Vos, A., Delhanty, J., Fiorentino, F., Gleicher, N., Griesinger, G., Grifo, J., Handyside, A., Harper, J., Kokkali, G., Mastenbroek, S., Meldrum, D., Meseguer, M., Montag, M., Munné, S., Rienzi, L., Rubio, C., Scott, K., Scott, R., Simon, C., Swain, J., Treff, N., Ubaldi, F., Vassena, R., Vermeesch, J., Verpoest, W., Wells, D., Geraedts, J. (2016). The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists, and embryologists. Molecular Human Reproduction, 22 (8), Art.No. gaw034.

Masset, H., Hestand, M., Van Esch, H., Kleinfinger, P., Plaisancié, J., Afenjar, A., Molignier, R., Schluth-Bolard, C., Sanlaville, D., Vermeesch, J. (2016). A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains. Human Mutation, 37 (7), Art.No. 10.1002/humu.22984.

Baert, T., Vermeesch, J., Timmerman, D., Vergote, I., Moerman, P. with Baert, T. (corresp. author) (2016). Choriocarcinoma in Situ in a Partial Hydatidiform Mole A Case Report. JOURNAL OF REPRODUCTIVE MEDICINE, 61 (7-8), 398-402. (URL)

Brady, P., Brison, N., Van Den Bogaert, K., de Ravel de l'Argentière, T., Peeters, H., Van Esch, H., Devriendt, K., Legius, E., Vermeesch, J. (2016). Clinical Implementation of NIPT - Technical and Biological Challenges. Clinical Genetics, 89 (5), Art.No. 10.1111/cge.12598.

Destouni, A., Zamani Esteki, M., Catteeuw, M., Tšuiko, O., Dimitriadou, E., Smits, K., Kurg, A., Salumets, A., Van Soom, A., Voet, T., Vermeesch, J.R. with Destouni, A. (joint first author), Zamani Esteki, M. (joint first author), Voet, T. (corresp. author), Vermeesch, J.R. (corresp. author) (2016). Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy. Genome Research, 26 (5), 567-578. doi: 10.1101/gr.200527.115

Cleynen, I., Konings, P., Robberecht, C., Laukens, D., Amininejad, L., Théâtre, E., Machiels, K., Arijs, I., Rutgeerts, P., Louis, E., Franchimont, D., De Vos, M., Van Steen, K., Georges, M., Moreau, Y., Vermeesch, J., Vermeire, S. (2016). Genome-Wide Copy Number Variation Scan Identifies Complement Component C4 as Novel Susceptibility Gene for Crohn's Disease. Inflammatory Bowel Diseases, 22 (3), 505-515.

Engels, A., Brady, P., Kammoun, M., Finalet Ferreiro, J., DeKoninck, P., Endo, M., Toelen, J., Vermeesch, J., Deprest, J. (2016). Pulmonary transcriptome analysis in the rabbit model of surgically-induced diaphragmatic hernia treated with fetal tracheal occlusion. Disease Models and Mechanisms, 9 (2), Art.No. dmm.021626, 221-8. Open Access

Breckpot, J., Anderlid, B-M., Alanay, Y., Blyth, M., Brahimi, A., Duban-Bedu, B., Gozé, O., Firth, H., Yakicier, M.C., Hens, G., Rayyan, M., Legius, E., Vermeesch, J.R., Devriendt, K. (2016). Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate. European Journal of Human Genetics, 24 (1), 51-8. doi: 10.1038/ejhg.2015.65 Demaerel, W., Hosseinzadeh, M., Nouri, N., Sedghi, M., Dimitriadou, E., Salehi, M., Abdali, H., Memarzadeh, M., Zamani, M., Vermeesch, J. (2016). Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents. Cytogenetic and Genome Research, 148, 1-5.

Hestand, M., Van Houdt, J., Cristofoli, F., Vermeesch, J. (2016). Polymerase specific error rates and profiles identified by single molecule sequencing. Mutation Research, 784, Art.No. S0027-5107(16)30004-5, 39-45. Open Access

Hestand, M., Nowakowska, B., Vergaelen, E., Van Houdt, J., Dehaspe, L., Suhl, J., Del-Favero, J., Mortier, G., Zackai, E., Swillen, A., Devriendt, K., Gur, R.E., McDonald-McGinn, D.M., Warren, S.T., Emanuel, B.S., Vermeesch, J. (2016). A catalog of hemizygous variation in 127 22q11 deletion patients. Human genome variation, 3, Art.No. 10.1038/hgv.2015.65. Open Access

Isrie, M., Breuss, M., Tian, G., Hansen, A.H., Cristofoli, F., Morandell, J., Kupchinsky, Z.A., Sifrim, A., Rodriguez-Rodriguez, C.M., Dapena, E.P., Doonanco, K., Leonard, N., Tinsa, F., Moortgat, S., Ulucan, H., Koparir, E., Karaca, E., Katsanis, N., Marton, V., Vermeesch, J., Davis, E.E., Cowan, N.J., Keays, D.A., Van Esch, H. (2015). Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. American Journal of Human Genetics, 97 (6), Art.No. 10.1016/j.ajhg.2015.10.014, 790-800.

Hehir-Kwa, J.Y., Claustres, M., Hastings, R.J., van Ravenswaaij-Arts, C., Christenhusz, G., Genuardi, M., Melegh, B., Cambon-Thomsen, A., Patsalis, P., Vermeesch, J., Cornel, M.C., Searle, B., Palotie, A., Capoluongo, E., Peterlin, B., Estivill, X., Robinson, P.N. (2015). Towards a European consensus for reporting incidental findings during clinical NGS testing. European Journal of Human Genetics, 23 (12), Art.No. 10.1038/ejhg.2015.111, 1601-6.

McDonald-McGinn, D.M., Sullivan, K.E., Marino, B., Philip, N., Swillen, A., Vorstman, J.A S., Zackai, E.H., Emanuel, B.S., Vermeesch, J., Morrow, B.E., Scambler, P.J., Bassett, A.S. (2015). 22q11.2 deletion syndrome. Nature Reviews Disease Primers, 1, Art.No. 10.1038/nrdp.2015.71.

Poelmans, S., Kawamoto, T., Cristofoli, F., Politis, C., Vermeesch, J., Bailleul, I., Hens, G., Devriendt, K., Verdonck, A., Carels, C. (2015). Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome. American Journal of Medical Genetics A, 167 (10), 2451-8. doi: 10.1002/ajmg.a.37207 Amant, F., Verheecke, M., Wlodarska, I., Dehaspe, L., Brady, P., Brison, N., Van Den Bogaert, K., Dierickx, D., Vandecaveye, V., Tousseyn, T., Moerman, P., Vanderstichele, A., Vergote, I., Neven, P., Berteloot, P., Putseys, K., Vandenberghe, P., Legius, E., Vermeesch, J. (2015). Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing. JAMA Oncology, 1 (6), 814-819. doi: 10.1001/jamaoncol.2015.1883

Fassbender, A., Debiec-Rychter, M., Bree, R.V., Vermeesch, J.R., Meuleman, C., Tomassetti, C., Peeraer, K., D'Hooghe, T., Lebovic, D.I. (2015). Lack of Evidence That Male Fetal Microchimerism is Present in Endometriosis. Reproductive Sciences, 22 (9), Art.No. 1933719115574343, 1115-21.

Jia, Y., Louw, J.J., Breckpot, J., Callewaert, B., Barrea, C., Sznajer, Y., Gewillig, M., Souche, E., Dehaspe, L., Vermeesch, J., Lambrechts, D., Devriendt, K., Corveleyn, A. (2015). The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects. American Journal of Medical Genetics A, 167 (8), Art.No. 10.1002/ajmg.a.37108, 1822-9. Zamani Esteki, M., Dimitriadou, E., Mateiu, L., Melotte, C., Van der Aa, N., Kumar, P., Das, R., Theunis, K., Cheng, J., Legius, E., Moreau, Y., Debrock, S., D'Hooghe, T., Verdyck, P., De Rycke, M., Sermon, K., Vermeesch, J., Voet, T. (2015). Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells. American Journal of Human Genetics, 96 (6), 894-912. doi: 10.1016/j.ajhg.2015.04.011 Open Access

Mari, F., Marozza, A., Mencarelli, M.A., Lo Rizzo, C., Fallerini, C., Dosa, L., Di Marco, C., Carignani, G., Baldassarri, M., Cianci, P., Vivarelli, R., Vascotto, M., Grosso, S., Rubegni, P., Caffarelli, C., Pretegiani, E., Fimiani, M., Garavelli, L., Cristofoli, F., Vermeesch, J., Nuti, R., Dotti, M.T., Balestri, P., Hayek, J., Selicorni, A., Renieri, A. (2015). Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. Brain & development, 37 (5), Art.No. S0387-7604(14)00212-5, 527-36.

Brady, P., Van Esch, H., Fieremans, N., Froyen, G., Slavotinek, A., Deprest, J., Devriendt, K., Vermeesch, J. (2015). Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. European Journal of Human Genetics, 23 (4), Art.No. 10.1038/ejhg.2014.135, 551-4.

Vandenberghe, P., Wlodarska, I., Tousseyn, T., Dehaspe, L., Dierickx, D., Verheecke, M., Uyttebroeck, A., Bechter, O., Delforge, M., Vandecaveye, V., Brison, N., Verhoef, G., Legius, E., Amant, F., Vermeesch, J. (2015). Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study. Lancet Heamatology, 2 (2), E55-E65. doi: 10.1016/S2352-3026(14)00039-8 Open Access

Bayindir, B., Dehaspe, L., Brison, N., Brady, P., Ardui, S., Kammoun, M., Van der Veken, L., Lichtenbelt, K., Van den Bogaert, K., Van Houdt, J., Peeters, H., Van Esch, H., de Ravel, T., Legius, E., Devriendt, K., Vermeesch, J. (2015). Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management. European Journal of Human Genetics, 23, 1286-1293. doi: 10.1038/ejhg.2014.282

Wang, Q., Cai, Y., Brady, P., Vermeesch, J. (2015). Real-time PCR evaluation of cell-free DNA subjected to various storage and shipping conditions. Genetics and Molecular Research, 14 (4), Art.No. 10.4238/2015.October.19.23, 12797-804.

Dimitriadou, E., Zamani Esteki, M., Vermeesch, J. (2015). Copy Number Variation Analysis by Array Analysis of Single Cells Following Whole Genome Amplification. Methods in Molecular Biology, 1347, Art.No. 10.1007/978-1-4939-2990-0_14, 197-219.

Herten, K., Hestand, M., Vermeesch, J., Van Houdt, J. (2015). GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments. BMC Bioinformatics, 16 (1), Art.No. 10.1186/s12859-015-0514-3. Open Access

Deprest, J., Brady, P., Nicolaides, K., Benachi, A.

, Berg, C., Vermeesch, J., Gardener, G., Gratacos, E. (2014). Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial. Seminars in Fetal and Neonatal Medicine, 19 (6), Art.No. S1744-165X(14)00076-6, 338-348. doi: 10.1016/j.siny.2014.09.006 Hogervorst, J.G F., Godschalk, R.W L., van den Brandt, P.A., Weijenberg, M.P., Verhage, B.A J., Jonkers, L., Goessens, J., Simons, C.C J M., Vermeesch, J., van Schooten, F.J., Schouten, L.J. (2014). DNA from nails for genetic analyses in large-scale epidemiologic studies. Cancer Epidemiology, Biomarkers & Prevention, 23 (12), Art.No. 10.1158/1055-9965.EPI-14-0552, 2703-12. Mensah, M., Hestand, M., Larmuseau, M., Isrie, M., Vanderheyden, N., Declercq, M., Souche, E., Van Houdt, J., Stoeva, R., Van Esch, H., Devriendt, K., Voet, T., Decorte, R., Robinson, P., Vermeesch, J. (2014). Pseudoautosomal Region 1 length polymorphism in the human population. PLoS Genetics, 10 (11), Art.No. e1004578. Open Access

Brady, P., Moerman, P., De Catte, L., Deprest, J., Devriendt, K., Vermeesch, J. (2014). Exome Sequencing Identifies a recessive PIGN splice site mutation as a cause of Syndromic Congenital Diaphragmatic Hernia. European Journal of Medical Genetics, 57 (9), Art.No. S1769-7212(14)00113-X, 487-93.

Ardeshirdavani, A., Souche, E., Dehaspe, L., Van Houdt, J., Vermeesch, J., Moreau, Y. (2014). NGS-Logistics: Federated analysis of NGS sequence variants across multiple locations. Genome Medicine, 6 (9), 71-73. Open Access

Vanuytsel, K., Cai, Q., Nair, N., Khurana, S., Shetty, S., Vermeesch, J., Ordovas Vidal, L., Verfaillie, C. (2014). FANCA knockout in human embryonic stem cells causes a severe growth disadvantage. Stem Cell Research, 13 (2), Art.No. 10.1016/j.scr.2014.07.005, 240-50. Open Access

Sousa, S.B., Hennekam, R.C., Nicolaides-Baraitser Syndrome International Consor, , Vogels, A. (contr.) (2014). Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med Genet C Semin Med Genet, 166C (3), 302-314. doi: 10.1002/ajmg.c.31409

Harper, J., Geraedts, J., Borry, P., Cornel, M.C., Dondorp, W.J., Gianaroli, L., Harton, G., Milachich, T., Kääriäinen, H., Liebaers, I., Morris, M., Sequeiros, J., Sermon, K., Shenfield, F., Skirton, H., Soini, S., Spits, C., Veiga, A., Vermeesch, J., Viville, S., de Wert, G., Macek, M., on behalf of ESHG, E.S H R E A E. (2014). Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy†. Human Reproduction, 29 (8), Art.No. 10.1093/humrep/deu130, 1603-9. doi: 10.1093/humrep/deu130 Open Access

Campbell, I.M., Yuan, B., Robberecht, C., Pfundt, R., Szafranski, P., McEntagart, M.E., Nagamani, S.C S., Erez, A., Bartnik, M., Wiśniowiecka-Kowalnik, B., Plunkett, K.S., Pursley, A.N., Kang, S-H.L., Bi, W., Lalani, S.R., Bacino, C.A., Vast, M., Marks, K., Patton, M., Olofsson, P., Patel, A., Veltman, J.A., Cheung, S.W., Shaw, C.A., Vissers, L.E L M., Vermeesch, J., Lupski, J.R., Stankiewicz, P. (2014). Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders. American journal of human genetics, 95 (2), Art.No. S0002-9297(14)00312-7, 173-82.

Brady, P., Delle Chiaie, B., Christenhusz, G., Dierickx, K., Van Den Bogaert, K., Menten, B., Janssens, S., Defoort, P., Roets, E., Sleurs, E., Keymolen, K., De Catte, L., Deprest, J., de Ravel de l'Argentière, T., Van Esch, H., Fryns, J-P., Devriendt, K., Vermeesch, J. (2014). A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors. Genetics in Medicine, 16 (6), Art.No. 10.1038/gim.2013.168, 469-76.

Hart, L., Rauch, A., Carr, A.M., Vermeesch, J., O'Driscoll, M. (2014). LETM1 haploinsufficiency causes mitochondrial defects in Wolf-Hirschhorn syndrome patient cells: implications for dissecting underlying pathomechanisms in this condition. Disease Models and Mechanisms, 7 (5), 535-545. Open Access

Posmyk, R., Leśniewicz, R., Gogiel, M., Chorąży, M., Bakunowicz-Łazarczyk, A., Sielicka, D., Vermeesch, J., Nowakowska, B.A. (2014). The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities. American Journal of Medical Genetics A, 164 (4), Art.No. 10.1002/ajmg.a.36394, 1056-1061. doi: 10.1002/ajmg.a.36394 Vanakker, O., Vilain, C., Janssens, K., Van der Aa, N., Smits, G., Bandelier, C., Blaumeiser, B., Bulk, S., Caberg, J-H., De Leener, A., De Raedemaker, M., de Ravel de l'Argentière, T., Desir, J., Destree, A., Dheedene, A., Gaillez, S., Grisart, B., Hellin, A-C., Janssens, S., Keymolen, K., Menten, B., Pichon, B., Ravoet, M., Revencu, N., Rombout, S., Staessens, C., Van Den Bogaert, A., Van Den Bogaert, K., Vermeesch, J., Kooy, F., Snajer, Y., Devriendt, K. (2014). Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. European Journal of Medical Genetics, 57 (4), Art.No. S1769-7212(14)00027-5, 151-156.

Briand-Suleau, A., Martinovic, J., Tosca, L., Tou, B., Brisset, S., Bouligand, J., Delattre, V., Giurgea, I., Bachir, J., Folliot, P., Goumy, C., Francannet, C., Guiochon-Mantel, A., Benachi, A., Vermeesch, J., Tachdjian, G., Vago, P., Goossens, M., Métay, C. (2014). SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication. European Journal of Medical Genetics, 57 (4), Art.No. S1769-7212(14)00018-4, 174-180. Winand, R., Hens, K., Dondorp, W., de Wert, G., Moreau, Y., Vermeesch, J., Liebaers, I., Aerts, J. (2014). In vitro screening of embryos by whole-genome sequencing : now, in the future or never ? Human Reproduction, 29 (4), 842-851. doi: 10.1093/humrep/deu005

Duitama, J., Zablotskaya, A., Gemayel, R., Jansen, A., Belet, S., Vermeesch, J., Verstrepen, K., Froyen, G. (2014). Large-scale analysis of tandem repeat variability in the human genome. Nucleic Acids Research, 42 (9), 5728-5741. Open Access

Brady, P., Van Houdt, J., Callewaert, B., Deprest, J., Devriendt, K., Vermeesch, J. (2014). Exome sequencing identifies ZFPM2 as a cause of familial isolated Congenital Diaphragmatic Hernia and possibly cardiovascular malformations. European Journal of Medical Genetics, 57 (6), Art.No. S1769-7212(14)00091-3, 247-252.

Dimitriadou, E., Van der Aa, N., Cheng, J., Voet, T., Vermeesch, J. (2014). Single cell segmental aneuploidy detection is compromised by S phase. Molecular Cytogenetics, 7, Art.No. 10.1186/1755-8166-7-46.

Brady, P., DeKoninck, P., Fryns, J-P., Devriendt, K., Deprest, J., Vermeesch, J. (2013). Identification of dosage sensitive genes in foetuses referred with severe isolated congenital diaphragmatic hernia. Prenatal Diagnosis, 33 (13), Art.No. 10.1002/pd.4244, 1283-92. doi: 10.1002/pd.4244

Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmüller, J., Alanay, Y., Kayserili, H., Klein-Hitpass, L., Böhringer, S., Wollstein, A., Albrecht, B., Boduroglu, K., Caliebe, A., Chrzanowska, K., Cogulu, O., Cristofoli, F., Czeschik, J.C., Devriendt, K., Dotti, M.T., Elcioglu, N., Gener, B., Goecke, T.O., Krajewska-Walasek, M., Guillén-Navarro, E., Hayek, J., Houge, G., Kilic, E., Simsek-Kiper, P.Ö., López-González, V., Kuechler, A., Lyonnet, S., Mari, F., Marozza, A., Mathieu Dramard, M., Mikat, B., Morin, G., Morice-Picard, F., Ozkynay, F., Rauch, A., Renieri, A., Tinschert, S., Utine, G.E., Vilain, C., Vivarelli, R., Zweier, C., Nürnberg, P., Rahmann, S., Vermeesch, J., Lüdecke, H-J., Zeschnigk, M., Wollnik, B. (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human Molecular Genetics, 22 (25), 5121-35.

Harper, J.C., Geraedts, J., Borry, P., Cornel, M.C., Dondorp, W., Gianaroli, L., Harton, G., Milachich, T., Kääriäinen, H., Liebaers, I., Morris, M., Sequeiros, J., Sermon, K., Shenfield, F., Skirton, H., Soini, S., Spits, C., Veiga, A., Vermeesch, J., Viville, S., de Wert, G., Macek, M. (2013). Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policyEuropean Society of Human Genetics and European Society of Human Reproduction and Embryology. European Journal of Human Genetics, 21, Art.No. 10.1038/ejhg.2013.219. Open Access

McConnell, M.J., Lindberg, M.R., Brennand, K.J., Piper, J.C., Voet, T., Cowing-Zitron, C., Shumilina, S., Lasken, R.S., Vermeesch, J., Hall, I.M., Gage, F.H. (2013). Mosaic copy number variation in human neurons. Science, 342 (6158), Art.No. 10.1126/science.1243472, 632-637.

Sifrim, A., Popovic, D., Tranchevent, L-C., Ardeshirdavani, A., Sakai, R., Konings, P., Vermeesch, J., Aerts, J., De Moor, B., Moreau, Y. (2013). eXtasy : Variant prioritization by genomic data fusion. Nature Methods, 10 (11), Art.No. 10.1038/nmeth.2656, 1083-1084. doi: 10.1038/nmeth.2656 Open Access

Van der Aa, N., Zamani Esteki, M., Vermeesch, J., Voet, T. (2013). Preimplantation genetic diagnosis guided by single-cell genomics. Genome Medicine, 5 (8). Voet, T., Kumar, P., Van Loo, P., Cooke, S.L., Marshall, J., Lin, M-L., Zamani Esteki, M., Van der Aa, N., Mateiu, L., McBride, D.J., Bignell, G.R., McLaren, S., Teague, J., Butler, A., Raine, K., Stebbings, L.A., Quail, M.A., D'Hooghe, T., Moreau, Y., Futreal, P.A., Stratton, M.R., Vermeesch, J., Campbell, P.J. with Voet, T. (corresp. author), Vermeesch, J. (corresp. author), Campbell, P.J. (corresp. author) (2013). Single-cell paired-end genome sequencing reveals structural variation per cell cycle. Nucleic acids research, 41 (12), 6119-6138. doi: 10.1093/nar/gkt345 Open Access

Lindgren, A.M., Hoyos, T., Talkowski, M.E., Hanscom, C., Blumenthal, I., Chiang, C., Ernst, C., Pereira, S., Ordulu, Z., Clericuzio, C., Drautz, J.M., Rosenfeld, J.A., Shaffer, L.G., Velsher, L., Pynn, T., Vermeesch, J., Harris, D.J., Gusella, J.F., Liao, E.C., Morton, C.C. (2013). Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Human Genetics, 132 (5), 537-552.

Van der Aa, N., Cheng, J., Mateiu, L., Zamani Esteki, M., Kumar, P., Dimitriadou, E., Vanneste, E., Moreau, Y., Vermeesch, J., Voet, T. (2013). Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains. Nucleic acids research, 41 (6), Art.No. e66.

Delio, M., Guo, T., McDonald-McGinn, D.M., Zackai, E., Herman, S., Kaminetzky, M., Higgins, A.M., Coleman, K., Chow, C., Jarlbrzkowski, M., Bearden, C.E., Bailey, A., Vangkilde, A., Olsen, L., Olesen, C., Skovby, F., Werge, T.M., Templin, L., Busa, T., Philip, N., Swillen, A., Vermeesch, J., Devriendt, K., Schneider, M., Dahoun, S., Eliez, S., Schoch, K., Hooper, S.R., Shashi, V., Samanich, J., Marion, R., van Amelsvoort, T., Boot, E., Klaassen, P., Duijff, S.N., Vorstman, J., Yuen, T., Silversides, C., Chow, E., Bassett, A., Frisch, A., Weizman, A., Gothelf, D., Niarchou, M., van den Bree, M., Owen, M.J., Suñer, D.H., Andreo, J.R., Armando, M., Vicari, S., Digilio, M.C., Auton, A., Kates, W.R., Wang, T., Shprintzen, R.J., Emanuel, B.S., Morrow, B.E. (2013). Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes. American Journal of Human Genetics, 92 (3), Art.No. 10.1016/j.ajhg.2013.01.018, 439-447.

Robberecht, C., Voet, T., Zamani Esteki, M., Nowakowska, B., Vermeesch, J. (2013). Non-allelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations. Genome research, 23 (3), 411-418. Open Access

Boudry-Labis, E., Demeer, B., Le Caignec, C., Isidor, B., Mathieu-Dramard, M., Plessis, G., George, A.M., Taylor, J., Aftimos, S., Wiemer-Kruel, A., Kohlhase, J., Annerén, G., Firth, H., Simonic, I., Vermeesch, J., Thuresson, A-C., Copin, H., Love, D.R., Andrieux, J. (2013). A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. European journal of medical genetics, 56 (3), Art.No. S1769-7212(12)00336-9, 163-170.

McDonald-McGinn, D.M., Fahiminiya, S., Revil, T., Nowakowska, B., Suhl, J., Bailey, A., Mlynarski, E., Lynch, D.R., Yan, A.C., Bilaniuk, L.T., Sullivan, K.E., Warren, S.T., Emanuel, B.S., Vermeesch, J., Zackai, E.H., Jerome-Majewska, L.A. (2013). Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. Journal of medical genetics, 50 (2), 80-90.

Mertzanidou, A., Wilton, L., Cheng, J., Spits, C., Vanneste, E., Moreau, Y., Vermeesch, J., Sermon, K. (2013). Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos. Human Reproduction, 28 (1), 256-264.

Brady, P., Ardui, S., Vermeesch, J. (2013). The future of prenatal cytogenetics: from copy number variations to non-invasive prenatal testing. Current Genetic Medicine Reports, 1 (2), Art.No. DOI 10.1007/s40142-013-0016-4, 91-98.

Vanneste, E., Voet, T., Le Caginec, C., Ampe, M., Konings, P., Melotte, C., Debrock, S., Amyere, M., Vikkula, M., Schuit, F., Fryns, J.P., Verbeke, G., D'Hooghe, T., Moreau, Y., Vermeesch, J.R. (2012). Chromosome instability is common in human cleavage-stage embryos: Editorial comment. Obstetrical and Gynecological Survey, 67 (12), 787-788. doi: 10.1097/01.ogx.0000425650.49230.17

Michils, G., Hollants, S., Dehaspe, L., Van Houdt, J., Bidet, Y., Uhrhammer, N., Bignon, Y-J., Vermeesch, J., Cuppens Harry, H., Matthijs, G. (2012). Molecular Analysis of the Breast Cancer Genes BRCA1 and BRCA2 Using Amplicon-Based Massive Parallel Pyrosequencing. The Journal of Molecular Diagnostics, 14 (6), Art.No. 10.1016/j.jmoldx.2012.05.006, 623-630.

Isrie, M., Froyen, G., Devriendt, K., de Ravel de l'Argentière, T., Fryns, J-P., Vermeesch, J., Van Esch, H. (2012). Sporadic male patients with intellectual disability: Contribution of x-chromosome copy number variants. European Journal of Medical Genetics, 55 (11), 577-585.

Robberecht, C., Pexsters, A., Deprest, J., Fryns, J-P., D'Hooghe, T., Vermeesch, J. (2012). Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss. Prenatal diagnosis, 32 (10), Art.No. 10.1002/pd.3936, 933-942.

Moschidou, D., Mukherjee, S., Blundell, M.P., Drews, K., Jones, G.N., Abdulrazzak, H., Nowakowska, B., Phoolchund, A., Lay, K., Ramasamy, T.S., Cananzi, M., Nettersheim, D., Sullivan, M., Frost, J., Moore, G., Vermeesch, J., Fisk, N.M., Thrasher, A.J., Atala, A., Adjaye, J., Schorle, H., De Coppi, P., Guillot, P.V. (2012). Valproic Acid Confers Functional Pluripotency to Human Amniotic Fluid Stem Cells in a Transgene-free Approach. Molecular Therapy, 20 (10), Art.No. 10.1038/mt.2012.117, 1953-1967. Open Access

Christenhusz, G., Devriendt, K., Vermeesch, J., Dierickx, K. (2012). Why genomics shouldn't get too personal: In favor of filters: Re: Invited Comment by Holly K. Tabor et al. in American Journal of Medical Genetics Part A Volume 155. American Journal of Medical Genetics A, 158 (10), Art.No. 10.1002/ajmg.a.35547, 2641-2642. Open Access

Hastings, R., de Wert, G., Fowler, B., Krawczak, M., Vermeulen, E., Bakker, E., Borry, P., Dondorp, W., Nijsingh, N., Barton, D., Schmidtke, J., van El, C.G., Vermeesch, J., Stol, Y., Carmen Howard, H., Cornel, M.C. (2012). The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe. European Journal of Human Genetics, 20 (9), Art.No. 10.1038/ejhg.2012.56, 911-916. Open Access

Sifrim, A., Van Houdt, J., Tranchevent, L-C., Nowakowska, B., Sakai, R., Pavlopoulos GA, G., Devriendt, K., Vermeesch, J., Moreau, Y., Aerts, J. (2012). Annotate-it : a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease. Genome Medicine, 4 (73), 1-12. doi: 10.1186/gm374

Vanneste, E., Van der Aa, N., Voet, T., Vermeesch, J. (2012). Aneuploidy and Copy Number Variation in Early Human Development. Seminars in Reproductive Medicine, 30 (4), 302-308. doi: 10.1055/s-0032-1313909

Lumaka Zola, A., Vanhole, C., Casteels, I., Ortibus, E., De Wolf, V., Vermeesch, J., Lukusa-Tshilobo, P., Devriendt, K. (2012). Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1-22.2. American Journal of Medical Genetics A, 158 (6), Art.No. 10.1002/ajmg.a.35353, 1381-1387. doi: 10.1002/ajmg.a.35353

Chabchoub, E., Willekens, D., Vermeesch, J., Fryns, J-P. (2012). Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated. Clinical Genetics, 81 (6), 584-589. doi: 10.1111/j.1399-0004.2011.01684.x

Vetro, A., Bouman, K., Hastings, R., McMullan, D.J., Vermeesch, J., Miller, K., Sikkema-Raddatz, B., Ledbetter, D.H., Zuffardi, O., van Ravenswaaij-Arts, C.M A. (2012). The introduction of arrays in prenatal diagnosis: A special challenge. Human Mutation, 33 (6), Art.No. 10.1002/humu.22050, 923-929.

Vermeesch, J., Brady, P., Sanlaville, D., Kok, K., Hastings, R.J. (2012). Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics. Human Mutation, 33 (6), Art.No. 10.1002/humu.22076, 906-915.

Hannes, F., Hammond, P., Quarrell, O., Fryns, J-P., Devriendt, K., Vermeesch, J. (2012). A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome. American Journal of Medical Genetics A, 158 (5), Art.No. 10.1002/ajmg.a.35299, 996-1004. Open Access

Kerzendorfer, C., Hannes, F., Colnaghi, R., Abramowicz, I., Carpenter, G., Vermeesch, J., O'Driscoll, M. (2012). Characterising the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirshhorn syndrome. Human Molecular Genetics, 21 (10), 2181-2193. Open Access

Van Houdt, J.K J., Nowakowska, B.A., Sousa, S.B., van Schaik, B.D C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O.A., van den Boogaard, M-J.H., Bottani, A., Castori, M., Cormier-Daire, V., Deardorff, M.A., Filges, I., Fryer, A., Fryns, J-P., Gana, S., Garavelli, L., Gillessen-Kaesbach, G., Hall, B.D., Horn, D., Huylebroeck, D., Klapecki, J., Krajewska-Walasek, M., Kuechler, A., Lines, M.A., Maas, S., MacDermot, K.D., McKee, S., Magee, A., de Man, S.A., Moreau, Y., Morice-Picard, F., Obersztyn, E., Pilch, J., Rosser, E., Shannon, N., Stolte-Dijkstra, I., Van Dijck, P., Vilain, C., Vogels, A., Wakeling, E., Wieczorek, D., Wilson, L., Zuffardi, O., van Kampen, A.H C., Devriendt, K., Hennekam, R., Vermeesch, J.R. with Van Houdt, J.K J. (joint first author), Nowakowska, B.A. (joint first author), Sousa, S.B. (joint first author), van Schaik, B.D C. (joint first author) (2012). Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nature Genetics, 44 (4), 445-U261. doi: 10.1038/ng.1105

Robberecht, C., Voet, T., Utine, G.E., Schinzel, A., de Leeuw, N., Fryns, J-P., Vermeesch, J. (2012). Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. Molecular Cytogenetics, 5 (1), Art.No. 19. Open Access

Brady, P., Vermeesch, J. (2012). Genomic microarrays: a technology overview. Prenatal Diagnosis, 32 (4), Art.No. 10.1002/pd.2933, 336-343.

Breckpot, J., Thienpont, B., Bauters, M., Tranchevent, L-C., Gewillig, M., Allegaert, K., Vermeesch, J., Moreau, Y., Devriendt, K. (2012). Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1. American Journal of Medical Genetics A, 158 (3), Art.No. 10.1002/ajmg.a.35217, 574-580. doi: 10.1002/ajmg.a.35217

Vanneste, E., Bittman, L., Van der Aa, N., Voet, T., Vermeesch, J. (2012). New array approaches to explore single cells genomes. Frontiers in genetics, 3, Art.No. doi: 10.3389/fgene. Open Access

Isrie, M., Hendriks, Y., Gielissen, N., Sistermans, E.A., Willemsen, M.H., Peeters, H., Vermeesch, J., Kleefstra, T., Van Esch, H. (2012). Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms. European Journal of Human Genetics, 20 (2), Art.No. 10.1038/ejhg.2011.105, 131-133.

Nowakowska, B., de Leeuw, N., Ruivenkamp, C.A., Sikkema-Raddatz, B., Crolla, J.A., Thoelen, R., Koopmans, M., den Hollander, N., van Haeringen, A., van der Kevie-Kersemaekers, A-M., Pfundt, R., Mieloo, H., van Essen, T., de Vries, B.B A., Green, A., Reardon, W., Fryns, J-P., Vermeesch, J. (2012). Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. European Journal of Human Genetics, 20 (2), Art.No. 10.1038/ejhg.2011.157, 166-170.

Konings, P., Vanneste, E., Jackmaert, S., Ampe, M., Verbeke, G., Moreau, Y., Vermeesch, J., Voet, T. (2012). Microarray analysis of copy number variation in single cells. Nature Protocols, 7 (2), 281-310.

Breckpot, J., Thienpont, B., Gewillig, M., Allegaert, K., Vermeesch, J., Devriendt, K. (2012). Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects. Molecular Syndromology, 2 (2), 81-87.

Breckpot, J., Tranchevent, L.O-C., Thienpont, B., Bauters, M., Troost, E., Gewillig, M., Vermeesch, J., Moreau, Y., Devriendt, K., Van Esch, H. (2012). BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome. European Journal of Medical Genetics, 55 (1), 12-16.

Hammond, P., Hannes, F., Suttie, M., Devriendt, K., Vermeesch, J., Faravelli, F., Forzano, F., Parekh, S., Williams, S., McMullan, D., South, S.T., Carey, J.C., Quarrell, O. (2012). Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. European Journal of Human Genetics, 20 (1), Art.No. 10.1038/ejhg.2011.135, 33-40.

Breckpot, J., Thienpont, B., Arens, Y., Tranchevent, L-C., Vermeesch, J., Moreau, Y., Gewillig, M., Devriendt, K. (2011). Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects. Cytogenetic and Genome Research, 135 (3), 251-259. doi: 10.1159/000331272 Cheng, J., Vanneste, E., Konings, P., Voet, T., Vermeesch, J., Moreau, Y. (2011). Single-cell copy number variation detection. Genome Biology, 12 (8), Art.No. R80.

Soysal, Y., Vermeesch, J., Davani, N.A., Hekimler, K., Imirzalioglu, N. with Soysal, Y. (corresp. author) (2011). A 10.46 Mb 12p11.1-12.1 Interstitial Deletion Coincident With a 0.19 Mb NRXN1 Deletion Detected by Array CGH in a Girl With Scoliosis and Autism. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A (7), 1745-1752. doi: 10.1002/ajmg.a.34101

Voet, T., Vanneste, E., Van der Aa, N., Melotte, C., Jackmaert, S., Vandendael, T., Declercq, M., Debrock, S., Fryns, J-P., Moreau, Y., D'Hooghe, T., Vermeesch, J.R. with Voet, T. (joint first author), Vanneste, E. (joint first author) (2011). Breakage-Fusion-Bridge Cycles Leading to inv dup del Occur in Human Cleavage Stage Embryos. HUMAN MUTATION, 32 (7), 783-793. doi: 10.1002/humu.21502

Said, E., Cuschieri, A., Vermeesch, J., Fryns, J-P. (2011). Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH. American Journal of Medical Genetics A, 155 (6), Art.No. 10.1002/ajmg.a.33961, 1390-1392. Melo, J.B., Backx, L., Vermeesch, J., Santos, H.G., Sousa, A.C., Kosyakova, N., Weise, A., von Eggeling, F., Liehr, T., Carreira, I.M. (2011). Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances. Journal of Applied Genetics, 52 (2), 193-200.

Soysal, Y., Vermeesch, J., Ardeshir Davani, N., Hekimler, K., Imirzalıoğlu, N. (2011). A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism. American Journal of Medical Genetics A, 155 (7), Art.No. 10.1002/ajmg.a.34101, 1745-1752.

Vanneste, E., Melotte, C., Voet, T., Robberecht, C., Debrock, S., Pexsters, A., Staessen, C., Tomassetti, C., Legius, E., D'Hooghe, T., Vermeesch, J. (2011). PGD for a complex chromosomal rearrangement by array comparative genomic hybridization. Human Reproduction, 26 (4), 941-949. doi: 10.1093/humrep/der004

Ghassibe-Sabbagh, M., Desmyter, L., Langenberg, T., Claes, F., Boute, O., Bayet, B., Pellerin, P., Hermans, K., Backx, L., Mansilla, M.A., Imoehl, S., Nowak, S., Ludwig, K.U., Baluardo, C., Ferrian, M., Mossey, P.A., Noethen, M., Dewerchin, M., François, G., Revencu, N., Vanwijck, R., Hecht, J., Mangold, E., Murray, J., Rubini, M., Vermeesch, J., Poirel, H.A., Carmeliet, P., Vikkula, M. (2011). FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish. American Journal of Human Genetics, 88 (2), 150-161.

Balikova, I., de Ravel de l'Argentière, T., Ayuso, C., Thienpont, B., Casteels, I., Villaverde, C., Devriendt, K., Fryns, J-P., Vermeesch, J. (2011). High Frequency Of Submicroscopic Chromosomal Deletions in Patients with Idiopathic Congenital Eye Malformations. American Journal of Ophthalmology, 151 (6), 1087-1094.

Dimitrov, B., Balikova, I., de Ravel de l'Argentière, T., Van Esch, H., De Smedt, M., Baten, E., Vermeesch, J., Bradinova, I., Simeonov, E., Devriendt, K., Fryns, J-P., Debeer, P. (2011). 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. Journal of Medical Genetics, 48 (2), 98-104.

Chabchoub, E., Cogulu, O., Durmaz, B., Vermeesch, J., Ozkinay, F., Fryns, J-P. (2011). Oculocerebral Hypopigmentation Syndrome Maps to Chromosome 3q27.1q29. Dermatology, 223 (4), 306-310. Open Access

Koumbaris, G., Hatzisevastou-Loukidou, H., Alexandrou, A., Ioannides, M., Christodoulou, C., Fitzgerald, T., Rajan, D., Clayton, S., Kitsiou-Tzeli, S., Vermeesch, J., Skordis, N., Antoniou, P., Kurg, A., Georgiou, I., Carter, N.P., Patsalis, P.C. (2011). FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation. Human Molecular Genetics, 20 (10), 1925-1936.

Soysal, Y., Vermeesch, J., Davani, N.A., Sensoy, N., Hekimler, K., Imirzalıoğlu, N. (2011). Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech. Genetics and Molecular Research, 10 (3), 2148-54.

Zuffardi, O., Vetro, A., Brady, P., Vermeesch, J. (2011). Array technology in prenatal diagnosis. Seminars in Fetal and Neonatal Medicine, 16 (2), 94-98.

Backx, L., Seuntjens, E., Devriendt, K., Vermeesch, J., Van Esch, H. (2011). A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum. Cytogenetic and Genome Research, 132 (3), 135-143.

Voet, T., Vanneste, E., Vermeesch, J. (2011). The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements. Cytogenetic and Genome Research, 133 (2), 160-168. doi: 10.1159/000324235

Vermeesch, J., Balikova, I., Schrander-Stumpel, C., Fryns, J-P., Devriendt, K. (2011). The causality of de novo copy number variants is overestimated. European Journal of Human Genetics, 19 (11), 1112-1113.

Brady, P., Srisupundit, K., Devriendt, K., Fryns, J-P., Deprest, J., Vermeesch, J. (2011). Recent Developments in the Genetic Factors Underlying Congenital Diaphragmatic Hernia. Fetal Diagnosis and Therapy, 29 (1), 25-39.

Hannes, F., Van Houdt, J., Quarrell, O.W., Poot, M., Hochstenbach, R., Fryns, J-P., Vermeesch, J. (2010). Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions. Human Mutation, 31 (12), Art.No. 10.1002/humu.21368, 1343-1351.

Srisupundit, K., Brady, P., Devriendt, K., Fryns, J-P., Cruz-Martinez, R., Gratacos, E., Deprest, J., Vermeesch, J. (2010). Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH). Prenatal Diagnosis, 30 (12), 1198-1206.

Breckpot, J., Budts, W., de Zegher, F., Vermeesch, J., Devriendt, K. (2010). Duplication of the TGFBR1 gene causes features of Loeys-Dietz Syndrome. European Journal of Medical Genetics, 53 (6), 408-410.

Belay, E., Acosta-Sanchez, A., Quattrocelli, M., Mátés, L., Sancho-Bru, P., Geraerts, M., Yang, B., Vermeesch, J., Rincon Acelas, M.Y., Samara-Kuko, E., Ivics, Z., Verfaillie, C., Sampaolesi, M., Izsvák, Z., Vandendriessche, T., Chuah, M.K L. (2010). Novel Hyperactive Transposons for Genetic Modification of Induced Puripotent and Adult Stem Cells: A Non-Viral Paradigm for Coaxed Differentiation. Stem Cells, 28 (10), 1760-1771.

Backx, L., Vermeesch, J., Pijkels, E., de Ravel de l'Argentière, T., Seuntjens, E., Van Esch, H. (2010). PPP2R2C, a gene disrupted in autosomal dominant intellectual disability. European Journal of Medical Genetics, 53 (5), 239-243.

Dimitrov, B., Voet, T., De Smet, L., Vermeesch, J., Devriendt, K., Fryns, J-P., Debeer, P. (2010). Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani-Lenz-like non-syndromic oligosyndactyly. Journal of Medical Genetics, 47 (8), 569-574.

Robberecht, C., Fryns, J-P., Vermeesch, J. (2010). Piecing together the problems in diagnosing low-level chromosomal mosaicism. Genome Medicine, 2 (7), Art.No. 47.

Breckpot, J., Thienpont, B., Peeters, H., de Ravel, T., Singer, A., Rayyan, M., Allegaert, K., Vanhole, C., Eyskens, B., Vermeesch, J., Gewillig, M., Devriendt, K. (2010). Array Comparative Genomic Hybridization as a Diagnostic Tool for Syndromic Heart Defects. Journal of Pediatrics, 156 (5), 810-817.

Hannes, F., Drozniewska, M., Vermeesch, J., Haus, O. (2010). Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay. European Journal of Medical Genetics, 53 (3), 136-140.

Miller, D.T., Adam, M.P., Aradhya, S., Biesecker, L.G., Brothman, A.R., Carter, N.P., Church, D.M., Crolla, J.A., Eichler, E.E., Epstein, C.J., Faucett, W.A., Feuk, L., Friedman, J.M., Hamosh, A., Jackson, L., Kaminsky, E.B., Kok, K., Krantz, I.D., Kuhn, R.M., Lee, C., Ostell, J.M., Rosenberg, C., Scherer, S.W., Spinner, N.B., Stavropoulos, D.J., Tepperberg, J.H., Thorland, E.C., Vermeesch, J., Waggoner, D.J., Watson, M.S., Martin, C.L., Ledbetter, D.H. (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics, 86 (5), 749-764.

Breckpot, J., Hermans, R., Vander Poorten, V., Vermeesch, J., Devriendt, K. (2010). Congenital nasal piriform aperture stenosis as a rare manifestation of monosomy 1p36. Clinical Dysmorphology, 19 (2), 95-97. Open Access

Chabchoub, E., Michils, G., Vermeesch, J., De Cock, P., Lagae, L., Fryns, J-P. (2010). Duplication of the VHL and IRAK2 genes in a patient with mental retardation/multiple congenital anomalies, epilepsy and ectomorphic habitus. Genetic Counseling, 21 (1), 35-40.

Thienpont, B., Béna, F., Breckpot, J., Philip, N., Menten, B., Van Esch, H., Scalais, E., Salamone, J., Fong, C-T., Kussmann, J.L., Grange, D.K., Gorski, J., Zahir, F., Yong, S.L., Morris, M.M., Gimelli, S., Fryns, J-P., Mortier, G., Friedman, J.M., Villard, L., Bottani, A., Vermeesch, J., Cheung, S.W., Devriendt, K. (2010). Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. Journal of Medical Genetics, 47 (3), 155-161. doi: 10.1136/jmg.2009.070573

Deprest, J., Devlieger, R., Srisupundit, K., Beck, V., Sandaite, I., Rusconi, S., Claus, F., Naulaers, G., Van De Velde, M., Brady, P., Devriendt, K., Vermeesch, J., Toelen, J., Carlon, M., Debyser, Z., De Catte, L., Lewi, L. (2010). Fetal surgery is a clinical reality. Seminars in Fetal and Neonatal Medicine, 15 (1), 58-67. doi: 10.1016/j.siny.2009.10.002

Dimitrov, B., de Ravel, T., Van Driessche, J., de Die-Smulders, C., Toutain, A., Vermeesch, J., Fryns, J-P., Devriendt, K., Debeer, P. (2010). Distal limb deficiencies, micrognathia syndrome (OMIM 246560) and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. Journal of Medical Genetics, 47 (2), 103-111.

Franco, L.M., de Ravel, T., Graham, B.H., Frenkel, S.M., Van Driessche, J., Stankiewicz, P., Lupski, J.R., Vermeesch, J., Cheung, S.W. (2010). A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. European Journal of Human Genetics, 18 (2), 258-261.

Castermans, D., Volders, K., Crepel, A., Backx, L., De Vos, R., Freson, K., Meulemans, S., Vermeesch, J., Schrander-Stumpel, C.T R M., De Rijk, P., Del-Favero, J., Van Geet, C., Van de Ven, W., Steyaert, J., Devriendt, K., Creemers, J. (2010). SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Human Molecular Genetics, 19 (7), 1368-1378.

Debrock, S., Melotte, C., Spiessens, C., Peeraer, K., Vanneste, E., Meeuwis, L., Meuleman, C., Fryns, J-P., Vermeesch, J., D'Hooghe, T. (2010). Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial. Fertility and Sterility, 93 (2), 364-373.

Robberecht, C., Vanneste, E., Pexsters, A., D'Hooghe, T., Voet, T., Vermeesch, J. (2010). Somatic genomic variations in early human prenatal development. Current Genomics, 11 (6), 397-401.

Balikova, I., Devriendt, K., Fryns, J-P., Vermeesch, J. (2010). FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish. Molecular syndromology, 1 (5), 255-261.

Vermeesch, J., de Ravel, T. (2010). 'Mendelian CNV's' causing mental retardation and developmental disorders. Monographs in Human Genetics, 18, Art.No. 10, 114-125. doi: 10.1159/000287601

Ampe, M., Verbeke, G., Vanneste, E., Vermeesch, J. (2010). Analysis of array CGH data for the detection of single-cell chromosomal imbalances. Online Journal of Bioinformatics, 11 (2), 224-244.

Sheth, F., Ewers, E., Kosyakova, N., Weise, A., Sheth, J., Desai, M., Andrieux, J., Vermeesch, J., Hamid, A., Ziegler, M., Liehr, T. (2009). A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report. Molecular Cytogenetics, 2 (1), Art.No. 22.

Vanneste, E., Voet, T., Melotte, C., Debrock, S., Sermon, K., Staessen, C., Liebaers, I., Fryns, J-P., D'Hooghe, T., Vermeesch, J.R. with Vanneste, E. (joint first author), Voet, T. (joint first author) (2009). What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate. HUMAN REPRODUCTION, 24 (11), 2679-2682. doi: 10.1093/humrep/dep266 Open Access

Balikova, I., Lehesjoki, A-E., de Ravel, T., Thienpont, B., Chandler, K.E., Clayton-Smith, J., Träskelin, A-L., Fryns, J-P., Vermeesch, J. (2009). Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Human Mutation, 30 (9), E845-E854. doi: 10.1002/humu.21065

van Bon, B.W M., Mefford, H.C., Menten, B., Koolen, D.A., Sharp, A.J., Nillesen, W.M., Innis, J.W., de Ravel de l'Argentière, T., Mercer, C.L., Fichera, M., Stewart, H., Connell, L.E., Ounap, K., Lachlan, K., Castle, B., Van der Aa, N., van Ravenswaaij, C., Nobrega, M.A., Serra-Juhé, C., Simonic, I., de Leeuw, N., Pfundt, R., Bongers, E.M., Baker, C., Finnemore, P., Huang, S., Maloney, V.K., Crolla, J.A., van Kalmthout, M., Elia, M., Vandeweyer, G., Fryns, J-P., Janssens, S., Foulds, N., Reitano, S., Smith, K., Parkel, S., Loeys, B., Woods, C.G., Oostra, A., Speleman, F., Pereira, A.C., Kurg, A., Willatt, L., Knight, S.J L., Vermeesch, J., Romano, C., Barber, J.C., Mortier, G., Pérez-Jurado, L.A., Kooy, F., Brunner, H.G., Eichler, E.E., Kleefstra, T., de Vries, B.B A. (2009). Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics, 46 (8), 511-523.

Grisart, B., Willatt, L., Destrée, A., Fryns, J-P., Rack, K., de Ravel, T., Rosenfeld, J., Vermeesch, J., Verellen-Dumoulin, C., Sandford, R. (2009). 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction. Journal of Medical Genetics, 46 (8), 524-530. doi: 10.1136/jmg.2008.065367

Witters, I., Chabchoub, E., Vermeesch, J., Fryns, J-P. (2009). Submicroscopic distal deletion of the long arm of chromosome 13(13q34) with corpus callosum agenesis. American Journal of Medical Genetics A, 149 (8), 1834-1836. doi: 10.1002/ajmg.a.32978

Balikova, I., Vermeesch, J., Fryns, J-P., Van Esch, H. (2009). Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10). European Journal of Medical Genetics, 52 (4), 260-261.

Robberecht, C., Schuddinck, V., Fryns, J-P., Vermeesch, J. (2009). Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls. Genetics in Medicine, 11 (9), 646-654. doi: 10.1097/GIM.0b013e3181abc92a

Guo, S.W., Hummelshoj, L., Olive, D., Bulun, S., D'Hooghe, T. (2009). A call for more transparency of registered clinical trials on endometriosis. Human Reproduction, 24 (6), 1247-1254.

Vanneste, E., Melotte, C., Debrock, S., D'Hooghe, T., Brems, H., Fryns, J-P., Legius, E., Vermeesch, J. (2009). Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions. Human Reproduction, 24 (6), 1522-1528. doi: 10.1093/humrep/dep034

de Ravel, T., Balikova, I., Van Driessche, J., Vermeesch, J., Fryns, J-P. (2009). "Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion. American Journal of Medical Genetics A, 149 (6), 1315-1316.

Vanneste, E., Voet, T., Le Caignec, C., Ampe, M., Konings, P., Melotte, C., Debrock, S., Amyere, M., Vikkula, M., Schuit, F., Fryns, J-P., Verbeke, G., D'Hooghe, T., Moreau, Y., Vermeesch, J.R. with Vanneste, E. (joint first author), Voet, T. (joint first author) (2009). Chromosome instability is common in human cleavage-stage embryos. NATURE MEDICINE, 15 (5), 577-583. doi: 10.1038/nm.1924

Nuytten, H., Wlodarska, I., Nackaerts, K., Vermeire, S., Vermeesch, J., Cassiman, J-J., Cuppens, H. (2009). Accurate determination of copy number variations (CNVs): application to the α- and β-defensin CNVs. Journal of Immunological Methods, 344 (1), 35-44.

Hannes, F., Sharp, A.J., Mefford, H.C., de Ravel, T., Ruivenkamp, C.A., Breuning, M.H., Fryns, J-P., Devriendt, K., Van Buggenhout, G., Vogels, A., Stewart, H., Hennekam, R.C., Cooper, G.M., Regan, R., Knight, S.J L., Eichler, E.E., Vermeesch, J. (2009). Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. Journal of Medical Genetics, 46 (4), 223-232. Open Access

de Ravel, T., Ameye, L., Ballon, K., Borghgraef, M., Vermeesch, J., Devriendt, K. (2009). Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. European Journal of Medical Genetics, 52 (2), 145-147. doi: 10.1016/j.ejmg.2009.02.002

de Ravel, T., Balikova, I., Thiry, P., Vermeesch, J., Fryns, J-P. (2009). Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome. European Journal of Medical Genetics, 52 (2), 120-122. doi: 10.1016/j.ejmg.2009.01.002

Thienpont, B., Dimitriadou, E., Theodoropoulos, K., Breckpot, J., Fryssira, H., Kitsiou-Tzeli, S., Tzoufi, M., Vermeesch, J., Syrrou, M., Devriendt, K. (2009). Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1. European journal of medical genetics, 52 (6), 393-7.

Allemeersch, J., Van Vooren, S., Hannes, F., De Moor, B., Vermeesch, J., Moreau, Y. (2009). An experimental loop design improves the detection of congenital chromosomal aberrati. BMC Bioinformatics, 10, Art.No. 380. doi: 10.1186/1471-2105-10-380

Denayer, E., Brems, H., De Cock, P., Evans, G.D., Van Calenbergh, F., Bowers, N., Sciot, R., Debiec-Rychter, M., Vermeesch, J., Fryns, J-P., Legius, E. (2009). Pathogenesis of vestibular schwannoma in ring chromosome 22. BMC Medical Genetics, 10, Art.No. 97. doi: 10.1186/1471-2350-10-97

Carreira, I.M., Melo, J.B., Rodrigues, C., Backx, L., Vermeesch, J., Weise, A., Kosyakova, N., Oliveira, G., Matoso, E. (2009). Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy. Molecular Cytogenetics, 2, Art.No. 16.

Backx, L., Ceulemans, H., Vermeesch, J., Devriendt, K., Van Esch, H. (2009). Early myoclonic encephalopathy caused by a disruption of the Neuregulin-1 receptor ErbB4. European Journal Of Human Genetics, 17 (3), Art.No. O1, 378-382. doi: 10.1038/ejhg.2008.180

Maas, N.M C., Van de Putte, T., Melotte, C., Francis, A., Schrander-Stumpel, C.T R M., Sanlaville, D., Genevieve, D., Lyonnet, S., Dimitrov, B., Devriendt, K., Fryns, J-P., Vermeesch, J.R. (2009). The C20orf133 gene is disrupted in a patient with Kabuki syndrome. BMJ Case Rep, 2009. doi: 10.1136/bcr.06.2009.1994

Melo, J.B., Matoso, E., Polityko, A., Saraiva, J., Backx, L., Vermeesch, J., Kosyakova, N., Ewers, E., Liehr, T., Carreira, I.M. (2009). Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation. Cytogenetic and Genome Research, 125 (2), 109-114.

Engbers, H., van der Smagt, J.J., van 't Slot, R., Vermeesch, J., Hochstenbach, R., Poot, M. (2009). Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. European Journal of Human Genetics, 17 (1), 129-132.

Dar, M., Giesler, T., Richardson, R., Cai, C., Cooper, M., Lavasani, S., Kille, P., Voet, T., Vermeesch, J. (2008). Development of a novel ozone- and photo-stable HyPer5 red fluorescent dye for array CGH and microarray gene expression analysis with consistent performance irrespective of environmental conditions. BMC Biotechnology, 8.

South, S.T., Hannes, F., Fisch, G.S., Vermeesch, J., Zollino, M. (2008). Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3. American Journal of Medical Genetics C, Seminars in Medical Genetics, 148 (4), 270-274. doi: 10.1002/ajmg.c.30188

Castermans, D., Thienpont, B., Volders, K., Crepel, A., Vermeesch, J., Schrander-Stumpel, C.T., Van de Ven, W., Steyaert, J., Creemers, J., Devriendt, K. (2008). Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism. European Journal of Human Genetics, 16 (10), 1187-1192.

Mefford, H.C., Sharp, A.J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V.K., Crolla, J.A., Baralle, D., Collins, A., Mercer, C., Norga, K., de Ravel, T., Devriendt, K., Bongers, E.M H F., de Leeuw, N., Reardon, W., Gimelli, S., Bena, F., Hennekam, R.C., Male, A., Gaunt, L., Clayton-Smith, J., Simonic, I., Park, S.M., Mehta, S.G., Nik-Zainal, S., Woods, C.G., Firth, H.V., Parkin, G., Fichera, M., Reitano, S., Lo Giudice, M., Li, K.E., Casuga, I., Broomer, A., Conrad, B., Schwerzmann, M., Raber, L., Gallati, S., Striano, P., Coppola, A., Tolmie, J.L., Tobias, E.S., Lilley, C., Armengol, L., Spysschaert, Y., Verloo, P., De Coene, A., Goossens, L., Mortier, G., Speleman, F., van Binsbergen, E., Nelen, M.R., Hochstenbach, R., Poot, M., Gallagher, L., Gill, M., McClellan, J., King, M-C., Regan, R., Skinner, C., Stevenson, R.E., Antonarakis, S.E., Chen, C., Estivill, X., Menten, B., Gimelli, G., Gribble, S., Schwartz, S., Sutcliffe, J.S., Walsh, T., Knight, S.J L., Sebat, J., Romano, C., Schwartz, C.E., Veltman, J.A., de Vries, B.B A., Vermeesch, J., Barber, J.C K., Willatt, L., Tassabehji, M., Eichler, E.E. (2008). Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England Journal of Medicine, 359 (16).

Breckpot, J., Takiyama, Y., Thienpont, B., Van Vooren, S., Vermeesch, J., Ortibus, E., Devriendt, K. (2008). A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. European Journal of Human Genetics, 16 (9), 1050-1054. doi: 10.1038/ejhg.2008.58 Open Access

Utine, E.G., Alanay, Y., Aktas, D., Alikasifoglu, M., Boduroglu, K., Vermeesch, J., Tuncbilek, E., Fryns, J-P. (2008). Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH. European Journal of Medical Genetics, 51 (4), 343-350.

Thienpont, B., Breckpot, J., Vermeesch, J., Gewillig, M., Devriendt, K. (2008). A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications. European Journal of Medical Genetics, 51 (3), 219-225.

Petrov, V., van Pelt, J., Vermeesch, J., Van Duppen, V., Vekemans, K., Fagard, R., Lijnen, P. (2008). TGF-beta(1)-induced cardiac myofibroblasts are nonproliferating functional cells carrying DNA damages. Experimental Cell Research, 314 (7), 1480-1494.

Chabchoub, E., Vermeesch, J., de Ravel, T., De Cock, P., Fryns, J-P. (2008). The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15. Journal of Medical Genetics, 45 (3), 189-192.

Maas, N.M C., Van Buggenhout, G., Hannes, F., Thienpont, B., Sanlaville, D., Kok, K., Midro, A., Andrieux, J., Anderlid, B-M., Schoumans, J., Hordijk, R., Devriendt, K., Fryns, J-P., Vermeesch, J. (2008). Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). Journal of Medical Genetics, 45 (2), 71-80. Open Access

Peeters, H., Vermeesch, J., Fryns, J-P. (2008). A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism. Genetic Counseling, 19 (4), 365-371.

Balikova, I., Martens, K., Melotte, C., Amyere, M., Van Vooren, S., Moreau, Y., Vetrie, D., Fiegler, H., Carter, N.P., Liehr, T., Vikkula, M., Matthijs, G., Fryns, J-P., Casteels, I., Devriendt, K., Vermeesch, J. (2008). Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16. American Journal of Human Genetics, 82 (1), 181-187. doi: 10.1016/j.ajhg.2007.08.001 Open Access

Backx, L., Fryns, J-P., Marcelis, C., Devriendt, K., Vermeesch, J., Van Esch, H. (2008). Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. American Journal Of Medical Genetics Part A, 152 (2), 319-326. doi: 10.1002/ajmg.a.33202

Liehr, T., Mrasek, K., Kosyakova, N., Ogilvie, C.M., Vermeesch, J., Trifonov, V., Rubtsov, N. (2008). Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them. Molecular Cytogenetics, 1 (1), Art.No. 12.

Backx, L., Thoelen, R., Van Esch, H., Vermeesch, J. (2008). Direct fluorescent labelling of clones by DOP PCR. Molecular Cytogenetics, 1 (1), Art.No. 3.

Hannes, F., Vermeesch, J. (2008). Benign and pathogenic copy number variation on the short arm of chromosome 4. Cytogenetic and Genome Research, 123 (1-4), 88-93. doi: 10.1159/000184695

Stoeva, R.E., Grozdanova, L.I., Vermeesch, J., Kirchhoff, M., Fryns, J-P., Ivanov, I.S., Patcheva, I.H., Dimitrov, B., Krastev, T.B., Linev, A.J., Stefanova, M.T. (2008). Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations. Folia Medica, 50 (4), 55-62.

De Gregori, M., Ciccone, R., Magini, P., Pramparo, T., Gimelli, S., Messa, J., Novara, F., Vetro, A., Rossi, E., Maraschio, P., Bonaglia, M., Anichini, C., Ferrero, G., Silengo, M., Fazzi, E., Zatterale, A., Fischetto, R., Previderé, C., Belli, S., Turci, A., Calabrese, G., Bernardi, F., Meneghelli, E., Riegel, M., Rocchi, M., Guerneri, S., Lalatta, F., Zelante, L., Romano, C., Fichera, M., Mattina, T., Arrigo, G., Zollino, M., Giglio, S., Lonardo, F., Bonfante, A., Ferlini, A., Cifuentes, F., Van Esch, H., Backx, L., Schinzel, A., Vermeesch, J., Zuffardi, O. (2007). Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients. Journal Of Medical Genetics, 44 (12), 750-762. doi: 10.1136/jmg.2007.052787

De Gregori, M., Ciccone, R., Magini, P., Pramparo, T., Gimelli, S., Messa, J., Novara, F., Vetro, A., Rossi, E., Maraschio, P., Bonaglia, M.C., Anichini, C., Ferrero, G.B., Silengo, M., Fazzi, E., Zatterale, A., Fischetto, R., Previderè, C., Belli, S., Turci, A., Calabrese, G., Bernardi, F., Meneghelli, E., Riegel, M., Rocchi, M., Guerneri, S., Lalatta, F., Zelante, L., Romano, C., Fichera, M., Mattina, T., Arrigo, G., Zollino, M., Giglio, S., Lonardo, F., Bonfante, A., Ferlini, A., Cifuentes, F., Van Esch, H., Backx, L., Schinzel, A., Vermeesch, J., Zuffardi, O. (2007). Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 cases. Journal of Medical Genetics, 44 (12), 750-762.

Thienpont, B., Mertens, L., de Ravel, T., Eyskens, B., Boshoff, D., Maas, N., Fryns, J-P., Gewillig, M., Vermeesch, J., Devriendt, K. (2007). Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. European Heart Journal, 28 (22), 2778-2784.

Vermeesch, J., Fiegler, H., de Leeuw, N., Szuhai, K., Schoumans, J., Ciccone, R., Speleman, F., Rauch, A., Clayton-Smith, J., Van Ravenswaaij, C., Sanlaville, D., Patsalis, P.C., Firth, H., Devriendt, K., Zuffardi, O. (2007). Guidelines for molecular karyotyping in constitutional genetic diagnosis. European Journal of Human Genetics, 15 (11), 1105-1114.

Le Caignec, C., Delnatte, C., Vermeesch, J., Boceno, M., Joubert, M., Lavenant, F., David, A., Rival, J-M. (2007). Complete sex reversal in a WAGR syndrome patient. American Journal of Medical Genetics A, 143 (22), 2692-2695.

Thienpont, B., de Ravel, T., Van Esch, H., Van Schoubroeck, D., Moerman, P., Vermeesch, J., Fryns, J-P., Froyen, G., Lacoste, C., Badens, C., Devriendt, K. (2007). Partial duplications of the ATRX gene cause the ATR-X syndrome. European Journal of Human Genetics, 15 (10), 1094-1097.

Balikova, I., Menten, B., de Ravel, T., Le Caignec, C., Thienpont, B., Urbina, M., Doco-Fenzy, M., de Rademaeker, M., Mortier, G., Kooy, F., van den Ende, J., Devriendt, K., Fryns, J-P., Speleman, F., Vermeesch, J. (2007). Subtelomeric imbalances in phenotypically normal individuals. Human Mutation, 28 (10), 958-967.

Froyen, G., Van Esch, H., Bauters, M., Hollanders, K., Frints, S.G M., Vermeesch, J., Devriendt, K., Fryns, J-P., Marynen, P. (2007). Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Human Mutation, 28 (10), 1034-1042.

Thienpont, B., Breckpot, J., Holvoet, M., Vermeesch, J.R., Devriendt, K. (2007). A microduplication of CBP in a patient with mental retardation and a congenital heart defect. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143 (18), 2160-2164. doi: 10.1002/ajmg.a.31893

Pospisilova, H., Baens, T., Michaux, L., Stul, M., Van Hummelen, P., Van Loo, P., Vermeesch, J., Jarosova, M., Zemanova, Z., Michalova, K., Van den Berghe, I., Alexander, H.D., Hagemeijer-Hausman, A., Vandenberghe, P., Cools, J., Peeters, C., Marynen, P., Wlodarska, I. (2007). Interstitial del(14)(q) involving IGH: a novel recurrent aberration in B-NHL. Leukemia, 21 (9), 2079-2083. doi: 10.1038/sj.leu.2404739

Thienpont, B., Breckpot, J., Holvoet, M., Vermeesch, J., Devriendt, K. (2007). A microduplication of CBP in a patient with mental retardation and a congenital heart defect. American Journal of Medical Genetics A, 143 (18), 2160-2164. Open Access

Van Vooren, S., Coessens, B., De Moor, B., Moreau, Y., Vermeesch, J. (2007). Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes. Genetics in Medicine, 9 (9), 642-649.

Maas, N.M C., Van de Putte, T., Melotte, C., Francis, A., Schrander-Stumpel, C.T R M., Sanlaville, D., Genevieve, D., Lyonnet, S., Dimitrov, B., Devriendt, K., Fryns, J-P., Vermeesch, J. (2007). The C20orf133 gene is disrupted in a patient with Kabuki syndrome. Journal of Medical Genetics, 44 (9), 562-9.

Jehee, F.S., Bertola, D.R., Yelavarthi, K.K., Krepischi-Santos, A.C V., Kim, C., Vianna-Morgante, A.M., Vermeesch, J.R., Passos-Bueno, M.R. with Passos-Bueno, M.R. (corresp. author) (2007). An 11q11-q13-3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A (16), 1912-1918. doi: 10.1002/ajmg.a.31863

Maas, N., Vermeesch, J., Fryns, J.P., Thienpont, B. (2007). Erratum: Facial assymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome. A microdeletion/duplication in 13q (Genetic Counseling (2006) 17, 4, (477-479)). Genetic Counseling, 18 (2).

Jehee, F.S., Bertola, D.R., Yelavarthi, K.K., Krepischi-Santos, A.C V., Kim, C., Vianna-Morgante, A.M., Vermeesch, J., Passos-Bueno, M.R. (2007). An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. American Journal of Medical Genetics A, 143 (16), 1912-1918.

de Ravel, T., Devriendt, K., Fryns, J-P., Vermeesch, J. (2007). What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH). European Journal of Pediatrics, 166 (7), 637-643.

Thienpont, B., Mertens, L., Buyse, G., Vermeesch, J., Devriendt, K. (2007). Left-ventricular non-compaction in a patient with monosomy 1p36. European Journal of Medical Genetics, 50 (3), 233-236.

Castermans, D., Vermeesch, J., Fryns, J-P., Steyaert, J., Van de Ven, W., Creemers, J., Devriendt, K. (2007). Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. European Journal of Human Genetics, 15 (4), 422-431.

Van Vooren, S., Thienpont, B., Menten, B., Speleman, F., De Moor, B., Vermeesch, J., Moreau, Y. (2007). Mapping Biomedical Concepts onto the Human Genome by Mining Literature on Chromosomal Aberrations. Nucleic Acids Research, 35 (8), 2533-2543.

Chabchoub, E., Rodríguez, L., Galán, E., Mansilla, E., Martínez-Fernandez, M.L., Martínez-Frías, M.L., Fryns, J-P., Vermeesch, J. (2007). Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation. Journal of Medical Genetics, 44 (4), 250-256.

Wozniak, A., Sciot, R., Guillou, L., Pauwels, P., Wasag, B., Stul, M., Vermeesch, J., Vandenberghe, P., Limon, J., Debiec-Rychter, M. (2007). Array CGH analysis in primary gastrointestinal stromal tumors: cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status. Genes, Chromosomes & Cancer, 46 (3), 261-276.

Maas, N.M., Van Vooren, S., Hannes, F., Van Buggenhout, G., Mysliwiec, M., Moreau, Y., Fagan, K., Midro, A., Engiz, O., Balci, S., Parker, M., Sznajer, Y., Devriendt, K., Fryns, J-P., Vermeesch, J. (2007). The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random. Genetic Counseling, 18 (4), 357-365.

Liehr, T., Mrasek, K., Reich, D., Ewers, E., Bartels, I., Seidel, J., Emmanuil, N., Petesen, M., Polityko, A., Dufke, A., Iourov, I., Trifonov, V., Vermeesch, J., Weise, A. (2007). Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature. Sexual Development, 1 (6), 353-362. doi: 10.1159/000111767 Open Access

Froyen, G., Van Esch, H., Bauters, M., Frints, S., Vermeesch, J., Devriendt, K., Fryns, J-P., Marynen, P. (2007). Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: frequent increased gene dosage of known XLMR genes. Art.No. 19.

Backx, L., Van Esch, H., Melotte, C., Kosyakova, N., Starke, H., Fryns, J-P., Liehr, T., Vermeesch, J. (2007). Array painting using microdissected chromosomes to map chromosomal breakpoints. Cytogenetic and Genome Research, 116 (3), 158-166.

De Raedt, T., Stephens, M., Heyns, I., Brems, H., Thijs, D., Messiaen, L., Stephens, K., Lazaro, C., Wimmer, K., Kehrer-Sawatzki, H., Vidaud, D., Kluwe, L., Marynen, P., Legius, E. (2006). Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nature Genetics, 38 (12), 1419-1423. doi: 10.1038/ng1920

Chabchoub, E., de Ravel, T., Thoelen, R., Vermeesch, J., Fryns, J-P., Van Esch, H. (2006). Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly. Clinical Genetics, 70 (6), 535-537.

Severi, T., Ying, C., Vermeesch, J., Cassiman, D., Cnops, L., Verslype, C., Fevery, J., Arckens, L., Neyts, J., van Pelt, J. (2006). Hepatitis B virus replication causes oxidative stress in HepAD38 liver cells. Molecular and Cellular Biochemistry, 290 (1), Art.No. http://doi.org/10.1007/s11010-006-9167-x, 79-85.

De Raedt, T., Maertens, O., Chmara, M., Brems, H., Heyns, I., Sciot, R., Majounie, E., Upadhyaya, M., De Schepper, S., Speleman, F., Messiaen, L., Vermeesch, J., Legius, E. (2006). Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients. Genes, Chromosomes & Cancer, 45 (10), 893-904.

Vermeesch, J., Rauch, A. (2006). Reply to Hochstenbach et al. 'Molecular karyotyping'. European Journal of Human Genetics, 14 (10), 1063-1064.

Thienpont, B., Gewillig, M., Fryns, J-P., Devriendt, K., Vermeesch, J. (2006). Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies. Cytogenetic and Genome Research, 114 (3), 338-341. doi: 10.1159/000094223

Sanlaville, D., Delnatte, C., Mougenot, J-F., Vermeesch, J-R., Houdayer, C., De Blois, M-C., Genevieve, D., Goulet, O., Fryns, J-P., Jaubert, F., Vekemans, M., Lyonnet, S., Romana, S., Eng, C., Stoppa-Lyonnet, D. with Stoppa-Lyonnet, D. (corresp. author) (2006). Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy - Reply to Salviati et al. AMERICAN JOURNAL OF HUMAN GENETICS, 79 (3), 596-597. doi: 10.1086/507152

Menten, B., Maas, N., Thienpont, B., Buysse, K., Vandesomple, J., Melotte, C., de Ravel, T., Van Vooren, S., Balikova, I., Backx, L., Janssens, S., De Paepe, A., De Moor, B., Moreau, Y., Marynen, P., Fryns, J-P., Mortier, G., Devriendt, K., Speleman, F., Vermeesch, J. (2006). Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of the literature. Journal of Medical Genetics, 43 (8), 625-633. Open Access

Thienpont, B., Vermeesch, J., Devriendt, K. (2006). Anterior cervical hypertrichosis and mental retardation. Clinical Dysmorphology, 15 (3), 189-190.

Delnatte, C., Sanlaville, D., Mougenot, J-F., Vermeesch, J., Houdayer, C., de Blois, M-C., Genevieve, D., Goulet, O., Fryns, J-P., Jaubert, F., Vekemans, M., Lyonnet, S., Romana, S., Eng, C., Stoppa-Lyonnet, D. (2006). Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. American Journal of Human Genetics, 78 (6), 1066-1074.

Le Caignec, C., Spits, C., Sermon, K., De Rycke, M., Thienpont, B., Debrock, S., Staessen, C., Moreau, Y., Fryns, J-P., Van Steirteghem, A., Liebaers, I., Vermeesch, J. (2006). Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Research, 34 (9). Open Access

Maertens, O., Prenen, H., Debiec-Rychter, M., Wozniak, A., Sciot, R., Pauwels, P., De Wever, I., Vermeesch, J., De Raedt, T., De Paepe, A., Speleman, F., Van Oosterom, A., Messiaen, L., Legius, E. (2006). Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Human Molecular Genetics, 15 (6), 1015-1023.

Balci, S., Engiz, O., Aktaş, D., Vargel, I., Beksaç, M.S., Mrasek, K., Vermeesch, J., Liehr, T. (2006). Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. American Journal of Medical Genetics A, 140 (6), 628-632.

Maas, N., Thienpont, B., Vermeesch, J., Fryns, J-P. (2006). Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q. Genetic Counseling, 17 (4), 477-479.

de Ravel, T., Balikova, I., Thienpont, B., Hannes, F., Maas, N., Fryns, J-P., Devriendt, K., Vermeesch, J. (2006). Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation. Cytogenetic and Genome Research, 115 (3), 225-230. doi: 10.1159/000095918

Liehr, T., Mrasek, K., Weise, A., Dufke, A., Rodriguez, L., Guardia, N.M., Sanchis, A., Vermeesch, J.R., Ramel, C., Polityko, A., Haas, O.A., Anderson, J., Claussen, U., von Eggeling, F., Starke, H. with Liehr, T. (corresp. author) (2006). Small supernumerary marker chromosomes progress towards a genotype-phenotype correlation. CYTOGENETIC AND GENOME RESEARCH, 112 (1-2), 23-34. doi: 10.1159/000087510

Liehr, T., Starke, H., Senger, G., Melotte, C., Weise, A., Vermeesch, J. (2006). Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC. American Journal of Medical Genetics A, 140 (1), 46-51.

Liehr, T., Mrasek, K., Weise, A., Dufke, A., Rodríguez, L., Martínez Guardia, N., Sanchís, A., Vermeesch, J., Ramel, C., Polityko, A., Haas, O.A., Anderson, J., Claussen, U., von Eggeling, F., Starke, H. (2006). Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation. Cytogenetic and Genome Research, 112 (1), 23-34.

Utine, G.E., Thoelen, R., Peeters, H., Vermeesch, J., Fryns, J-P. (2005). Partial trisomy 11q syndrome (11q23.1-->11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation. Genetic Counseling, 16 (3), 291-295.

Sanlaville, D., Lapierre, J.M., Coquin, A., Turleau, C., Vermeesch, J., Colleaux, L., Borck, G., Vekemans, M., Aurias, A., Romana, S.P. (2005). [Microarray CGH: principle and use for constitutional disorders]. Archives de Pédiatrie, 12 (10), 1515-1520.

Maas, N., Vermeesch, J., Fryns, J-P. (2005). A male with two idic(Y)(q12) chromosomes: a distinct phenotype resembling the XXXY/XXXXY syndrome. American Journal of Medical Genetics A, 138 (3), 294-296. doi: 10.1002/ajmg.a.30934

Lukusa-Tshilobo, P., Smeets, E., Vogels, A., Vermeesch, J., Fryns, J-P. (2005). Terminal 2q37 deletion and autistic behaviour. Genetic Counseling, 16 (2), 179-180.

Van Buggenhout, G., Van Ravenswaaij-Arts, C., Maas, N., Thoelen, R., Vogels, A., Smeets, D., Salden, I., Matthijs, G., Fryns, J-P., Vermeesch, J. (2005). The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. European Journal of Medical Genetics, 48 (3), 276-289.

Le Caignec, C., Swillen, A., Van Assche, E., Fryns, J-P., Vermeesch, J. (2005). Interstitial 6q deletion: clinical and array CGH characterisation of a new patient. European Journal of Medical Genetics, 48 (3), 339-345.

Thienpont, B., Vermeesch, J., Fryns, J-P. (2005). 25 Mb deletion of 13q13.3-->q21.31 in a patient without retinoblastoma. European Journal of Medical Genetics, 48 (3), 363-366.

Van Esch, H., Hollanders, K., Badisco, L., Melotte, C., Van Hummelen, P., Vermeesch, J., Devriendt, K., Fryns, J-P., Marynen, P., Froyen, G. (2005). Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Human Molecular Genetics, 14 (13), 1795-1803.

Vermeesch, J., Melotte, C., Salden, I., Riegel, M., Trifnov, V., Polityko, A., Rumyantseva, N., Naumchik, I., Starke, H., Matthijs, G., Schinzel, A., Fryns, J-P., Liehr, T. (2005). Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. European Journal of Medical Genetics, 48 (3), 319-327.

de Ravel, T., Aerssens, P., Vermeesch, J., Fryns, J-P. (2005). Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13. European Journal of Medical Genetics, 48 (3), 355-359.

Vermeesch, J. (2005). From chromosomes to molecular karyotyping. European Journal of Medical Genetics, 48 (3), 211-213.

Menten, B., Pattyn, F., De Preter, K., Robbrecht, P., Michels, E., Buysse, K., Mortier, G., De Paepe, A., Van Vooren, S., Vermeesch, J., Moreau, Y., De Moor, B., Vermeulen, S., Speleman, F., Vandesompele, J. (2005). arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays. BMC Bioinformatics, 6 (124), 1-20. doi: 10.1186/1471-2105-6-124 Open Access

Dhami, P., Coffey, A.J., Abbs, S., Vermeesch, J., Dumanski, J.P., Woodward, K.J., Andrews, R.M., Langford, C., Vetrie, D. (2005). Exon array CGH: Detection of copy-number changes at the resolution of individual exons in the human genome. American Journal of Human Genetics, 76 (5), 750-762.

Lukusa-Tshilobo, P., Vermeesch, J., Fryns, J-P. (2005). De novo deletion 7q36 resulting from a distal 7q/8q translocation: phenotypic expression and comparison to the literature. Genetic Counseling, 16 (1), 1-15.

Vermeesch, J., Melotte, C., Froyen, G., Van Vooren, S., Dutta, B., Maas, N., Vermeulen, S., Menten, B., Speleman, F., De Moor, B., Van Hummelen, P., Marynen, P., Fryns, J-P., Devriendt, K. (2005). Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. Journal of Histochemistry & Cytochemistry, 53 (3), 413-422.

Michils, G., Tejpar, S., Thoelen, R., Van Cutsem, E., Vermeesch, J., Fryns, J-P., Legius, E., Matthijs, G. (2005). Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. Human Mutation, 25 (2), 125-134.

Ioan, D.M., Vermeesch, J., Fryns, J-P. (2005). Terminal distal 13q trisomy due to de novo dup(13)(q32 --> qter). Genetic Counseling, 16 (4), 435-436.

Backx, L., Van Esch, H., Melotte, C., Kosyakova, N., Fryns, J-P., Liehr, T., Vermeesch, J. (2005). Array CGH using microdissected chromosomes to map chromosomal breakpoints. Art.No. O9.

Utine, G.E., Melotte, C., Vermeesch, J., Fryns, J-P. (2005). Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1. Genetic Counseling, 16 (4), 407-412.

de Ravel, T., Keymolen, K., van Assche, E., Wittevronghel, I., Moerman, P., Salden, I., Matthijs, G., Fryns, J-P., Vermeesch, J. (2004). Post-zygotic origin of isochromosome 12p. Prenatal Diagnosis, 24 (12), 984-988.

Van Buggenhout, G., Maas, N., Fryns, J-P., Vermeesch, J. (2004). A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, cytogenetic, and molecular findings. American Journal of Medical Genetics A, 131 (2), 186-9.

Lukusa-Tshilobo, P., Vermeesch, J., Holvoet, M., Fryns, J-P., Devriendt, K. (2004). Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder. Genetic Counseling, 15 (3), 293-301.

Melotte, C., Debrock, S., D'Hooghe, T., Fryns, J-P., Vermeesch, J. (2004). Preimplantation genetic diagnosis for an insertional translocation carrier. Human Reproduction, 19 (12), 2777-83.

Van Buggenhout, G., Melotte, C., Dutta, B., Froyen, G., Van Hummelen, P., Marynen, P., Matthijs, G., de Ravel, T., Devriendt, K., Fryns, J-P., Vermeesch, J. (2004). Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. Journal of Medical Genetics, 41 (9), 691-8.

Graux, C., Cools, J., Melotte, C., Quentmeier, H., Ferrando, A., Levine, R., Vermeesch, J., Stul, M., Dutta, B., Boeckx, N., Bosly, A., Heimann, P., Uyttebroeck, A., Mentens, N., Somers, R., MacLeod, R.A F., Drexler, H.G., Look, A.T., Gilliland, D.G., Michaux, L., Vandenberghe, P., Wlodarska, I., Marynen, P., Hagemeijer-Hausman, A. (2004). Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. Nature genetics, 36 (10), 1084-1089. Open Access

De Raedt, T., Brems, H., Lopez-Correa, C., Vermeesch, J., Marynen, P., Legius, E. (2004). Genomic organization and evolution of the NF1 microdeletion region. Genomics, 84 (2), 346-360.

Dimitrov, B., Devriendt, K., Maas, N., Vermeesch, J., Zahariev, D., Avdjieva, D., Popova, A., Popova, D.A A., Fryns, J-P., Simeonov, E. (2004). Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23). Genetic Counseling, 15 (2), 191-7.

Vermeesch, J., Thoelen, R., Fryns, J-P. (2004). A familial complex chromosome translocation resulting in duplication of 6p25. Annales de Génétique, 47 (3), 275-280.

Martens, E., Stevens, I., Janssens, V., Vermeesch, J., Götz, J., Goris, J., Van Hoof, C. (2004). Genomic organisation, chromosomal localisation tissue distribution and developmental regulation of the PR61/B' regulatory subunits of protein phosphatase 2A in mice. Journal of Molecular Biology, 336 (4), 971-86.

Witters, I., Vermeesch, J., Moerman, P., Fryns, J-P. (2004). Partial trisomy 3p/monosomy 9p with sex reversal. Ultrasound in Obstetrics & Gynecology, 23 (4), 418-9.

Vermeesch, J., Duhamel, H., Raeymaekers, P., Van Zand, K., Verhasselt, P., Fryns, J-P., Marynen, P. (2004). A physical map of the chromosome 12 centromere. Cytogenetic And Genome Research, 103 (1), 63-73. doi: 10.1159/000076291

Debeer, P., Vandenbossche, L., de Ravel, T., Desloovere, C., De Smet, L., Huysmans, C., Thoelen, R., Vermeesch, J., Van de Ven, W., Fryns, J-P. (2004). Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1. Clinical Genetics, 65 (2), 153-5.

Devriendt, K., Vermeesch, J. (2004). Chromosomal phenotypes and submicroscopic abnormalities. Human Genomics, 1 (2), 126-133.

de Ravel, T., Fryns, J-P., Van Driessche, J., Vermeesch, J. (2004). Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation. American Journal of Medical Genetics A, 124 (3), 259-262. doi: 10.1002/ajmg.a.20372

Vermeesch, J., Thoelen, R., Salden, I., Raes, M., Matthijs, G., Fryns, J-P. (2003). Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event. Journal of Medical Genetics, 40 (8).

Lukusa-Tshilobo, P., Holvoet, M., Vermeesch, J., Devriendt, K., Fryns, J-P. (2003). Partial monosomy 11q and trisomy 12q: variable expression in two siblings. Genetic Counseling, 14 (2), 155-64.

Vermeesch, J., Fryns, J-P. (2003). Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1-->q27). American Journal of Medical Genetics A, 120 (2), 299-300. doi: 10.1002/ajmg.a.20029

Veltman, J.A., Jonkers, Y., Nuijten, I., Janssen, I., van der Vliet, W., Huys, E., Vermeesch, J., Van Buggenhout, G., Fryns, J-P., Admiraal, R., Terhal, P., Lacombe, D., van Kessel, A.G., Smeets, D., Schoenmakers, E.F P M., van Ravenswaaij-Arts, C.M. (2003). Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. American Journal of Human Genetics, 72 (6), 1578-84.

Gebhardt, G.S., Devriendt, K., Thoelen, R., Swillen, A., Pijkels, E., Fryns, J-P., Vermeesch, J., Gewillig, M. (2003). No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome. European Journal of Human Genetics, 11 (2), 109-11.

De Bari, C., Dell'Accio, F., Vandenabeele, F., Vermeesch, J., Raymackers, J-M., Luyten, F. (2003). Skeletal muscle repair by adult human mesenchymal stem cells from synovial membrane. Journal of Cell Biology, 160 (6), 909-18. Open Access

Lukusa, T., Smeets, E., Vermeesch, J., Fryns, J-P. (2003). Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis. Genetic Counseling, 13 (4), 417-25.

Witters, I., Van Assche, F.A., Vermeesch, J., Fryns, J-P. (2003). Chromosomale en moleculaire afwijkingen bij herhaald miskraam. Tijdschrift voor Geneeskunde, 59 (12), 821-828.

de Ravel, T., Vermeesch, J., Fryns, J-P. (2003). De novo interstitial tandem duplication of chromosome 20p12.1p13. American Journal of Medical Genetics A, 117 (1), 76-79. doi: 10.1002/ajmg.a.10825

Vermeesch, J., Syrrou, M., Salden, I., Dhondt, F., Matthijs, G., Fryns, J-P. (2002). Mosaicism for duplication 12q (12q13-->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant. Journal of Medical Genetics, 39 (11).

Vermeesch, J., Baten, E., Fryns, J-P., Devriendt, K. (2002). Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. Clinical Genetics, 62 (5), 415-7.

Witters, I., Vermeesch, J., Gyselaers, W., Fryns, J-P. (2002). Distinct prenatal ultrasonographic cranial and cerebral findings in terminal deletion of the short arm of chromosome 1. Prenatal Diagnosis, 22 (9), 831-834.

Veugelers, M., De Cat, B., Delande, N., Esselens, C., Bonk, I., Vermeesch, J., Marynen, P., Fryns, J-P., David, G. (2001). A 4-Mb BAC/PAC contig and complete genomic structure of the GPC5/GPC6 gene cluster on chromosome 13q32. Matrix Biology, 20 (5), 375-85.

Voet, T., Vermeesch, J., Carens, A., Durr, J., Labaere, C., Duhamel, H., David, G., Marynen, P. with Vermeesch, J. (joint first author) (2001). Efficient male and female germline transmission of a human chromosomal vector in mice. GENOME RESEARCH, 11 (1), 124-136. doi: 10.1101/gr.159901 Open Access

Vogels, A., Devriendt, K., Vermeesch, J., Van Dael, R., Marynen, P., Dewaele, P., Hageman, J., Holvoet, M., Fryns, J-P. (2000). Cryptic translocation t(5;18) in familial mental retardation. Annales de Génétique, 43 (3), 117-23.

Sirvent, N., Forus, A., Lescaut, W., Burel, F., Benzaken, S., Chazal, M., Bourgeon, A., Vermeesch, J., Myklebost, O., Turc-Carel, C., Ayraud, N., Coindre, J.M., Pedeutour, F. (2000). Characterization of centromere alterations in liposarcomas. Genes, chromosomes & cancer, 29 (2), 117-29.

Van Veldhoven, P.P., Gijsbers, S., Mannaerts, G., Vermeesch, J., Brys, V. (2000). Human sphingosine-1-phosphate lyase: cDNA cloning, functional expression studies and mapping to chromosome 10q22. Biochimica et Biophysica Acta, 1487 (2), 128-34. doi: 10.1016/S1388-1981(00)00079-2

Falzetti, D., Vermeesch, J., Matteucci, C., Ciolli, S., Martelli, M.F., Marynen, P., Mecucci, C. (2000). Microdissection and FISH investigations in acute myeloid leukemia: a step forward to full identification of complex karyotypic changes. Cancer Genetics and Cytogenetics, 118 (1), 28-34.

Vermeesch, J., Duhamel, H., Petit, P., Falzetti, D., Fryns, J-P., Marynen, P. (1999). Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male. Human Genetics, 105 (6), 611-618.

Vermeesch, J., Petit, P., Dutra, A., Schröck, E., Ried, T., Fryns, J-P. (1999). A mosaic extra ring chromosome 4 in a female patient with postnatal overgrowth. Genetic Counseling, 10 (2), 195-6.

Veugelers, M., De Cat, B., Ceulemans, H., Bruystens, A-M., Coomans, C., Dürr, J., Vermeesch, J., Marynen, P., David, G. (1999). Glypican-6, a new member of the glypican family of cell surface heparan sulfate proteoglycans. Journal of Biological Chemistry, 274 (38), 26968-77.

Falzetti, D., Vermeesch, J., Hood, T.L., Nacheva, E.P., Matteucci, C., Martelli, M.F., Van den Berghe, H., Marynen, P., Mecucci, C. (1999). Identification of multiple copies of a 20q-chromosome in a case of myelodysplastic syndrome: a FISH study. Leukemia research., 23 (4), 407-13.

Devriendt, K., Matthijs, G., Van Dael, R., Gewillig, M., Eyskens, B., Hjalgrim, H., Dolmer, B., McGaughran, J., Bröndum-Nielsen, K., Marynen, P., Fryns, J-P., Vermeesch, J. (1999). Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. American Journal of Human Genetics, 64 (4), 1119-26.

Klobutcher, L.A., Gygax, S.E., Podoloff, J.D., Vermeesch, J.R., Price, C.M., Tebeau, C.M., Jahn, C.L. (1999). Erratum: Conserved DNA sequences adjacent to chromosome fragmentation and telomere addition sites in Euplotes crassus (Nucleic Acids Research (1998) 26, (4230-4240)). Nucleic Acids Research, 27 (4).

Veugelers, M., Vermeesch, J., Watanabe, K., Yamaguchi, Y., Marynen, P., David, G. (1998). GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. Genomics., 53 (1), 1-11.

Petit, P., Devriendt, K., Vermeesch, J., Meireleire, J., Fryns, J-P. (1998). Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p). Genetic Counseling, 9 (3), 215-21.

Vermeesch, J.R., Marynen, P. (1998). Chromosome (in)stability. Two telomeres and one centromere. Tijdschrift voor Geneeskunde, 54 (22), 1599-1603.

Vermeesch, J., Falzetti, D., Van Buggenhout, G., Fryns, J-P., Marynen, P. (1998). Chromosome healing of constitutional chromosome deletions studied by microdissection. Cytogenetics and cell genetics., 81 (1), 68-72.

Courtens, W., Grossman, D., Van Roy, N., Messiaen, L., Vamos, E., Toppet, V., Haumont, D., Streydio, C., Jauch, A., Vermeesch, J., Speleman, F. (1998). Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion. Human Genetics, 103, 497-505.

Klobutcher, L.A., Gygax, S.E., Podoloff, J.D., Vermeesch, J., Price, C.M., Tebeau, C.M., Jahn, C.L. (1998). Conserved DNA sequences adjacent to chromosome fragmentation and telomere addition sites in Euplotes crassus. Nucleic Acids Research, 26 (18), 4230-4240.

Petit, P., Devriendt, K., Vermeesch, J., De Cock, P., Fryns, J-P. (1998). Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation. Annales de Génétique, 41 (1), 22-26.

Petit, P., Vermeesch, J., Fryns, J-P. (1998). Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8)(p16.3;p23.1). Genetic Counseling, 9 (2), 157-8.

Dierlamm, J., Wlodarska, I., Michaux, L., Vermeesch, J., Meeus, P., Stul, M., Criel, A., Verhoef, G., Thomas, J., Delannoy, A., Louwagie, A., Cassiman, J-J., Mecucci, C., Hagemeijer-Hausman, A., Van den Berghe, H. (1997). FISH identifies different types of duplications with 12q13-15 as the commonly involved segment in B-cell lymphoproliferative malignancies characterized by partial trisomy 12. Genes, chromosomes & cancer., 20 (2), 155-66.

Devriendt, K., Petit, P., Matthijs, G., Vermeesch, J., Holvoet, M., De Muelenaere, A., Marynen, P., Cassiman, J-J., Fryns, J-P. (1997). Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome. Journal of Medical Genetics, 34 (5), 395-9.

Vermeesch, J., Petit, P., Speleman, F., Devriendt, K., Fryns, J-P., Marynen, P. (1997). Interstitial telomeric sequences at the junction site of a jumping translocation. Human Genetics, 99 (6), 735-7.

Veugelers, M., Vermeesch, J., Reekmans, G., Steinfeld, R., Marynen, P., David, G. (1997). Characterization of glypican-5 and chromosomal localization of human GPC5, a new member of the glypican gene family. Genomics., 40 (1), 24-30.

Novikov, D., Dieuaide-Noubhani, M., Vermeesch, J., Fournier, B., Mannaerts, G.P., Van Veldhoven, P.P. (1997). The human peroxisomal multifunctional protein involved in bile acid synthesis: activity measurement, deficiency in Zellweger syndrome and chromosome mapping. Biochimica et biophysica acta, 1360 (3), 229-40.

Vermeesch, J., Petit, P., Kermouni, A., Renauld, J.C., Van den Berghe, H., Marynen, P. (1997). The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y. Human Molecular Genetics, 6 (1), 1-8.

Vermeesch, J., De Meurichy, W., Van den Berghe, H., Marynen, P., Petit, P. (1996). Differences in the distribution and nature of the interstitial telomeric (TTAGGG)n sequences in the chromosomes of the Giraffidae, okapai (Okapia johnstoni), and giraffe (Giraffa camelopardalis): evidence for ancestral telomeres at the okapi polymorphic rob(5;26) fusion site. Cytogenetics and cell genetics., 72 (4), 310-5.

Aerssens, J., Guo, C., Vermeesch, J., Baens, T., Browne, D., Litt, M., Van den Berghe, H., Marynen, P. (1995). A physical map of the region spanning the chromosome 12 translocation breakpoint in a mesothelioma with a t(X;12)(q22;p13). Cytogenetics and cell genetics., 71 (3), 268-75.

Kermouni, A., Van Roost, E., Arden, K.C., Vermeesch, J., Weiss, S., Godelaine, D., Flint, J., Lurquin, C., Szikora, J.P., Higgs, D.R. (1995). The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter. Genomics, 29 (2), 371-82.

Vermeesch, J., Mertens, G., David, G., Marynen, P. (1995). Assignment of the human glypican gene (GPC1) to 2q35-q37 by fluorescence in situ hybridization. Genomics., 25 (1), 327-9.

PRICE, C.M., ADAMS, A.K., VERMEESCH, J.R. with PRICE, C.M. (corresp. author) (1994). ACCUMULATION OF TELOMERASE RNA AND TELOMERE PROTEIN TRANSCRIPTS DURING TELOMERE SYNTHESIS IN EUPLOTES. JOURNAL OF EUKARYOTIC MICROBIOLOGY, 41 (3), 267-275. doi: 10.1111/j.1550-7408.1994.tb01507.x

VERMEESCH, J.R., PRICE, C.M. (1994). TELOMERIC DNA-SEQUENCE AND STRUCTURE FOLLOWING DE-NOVO TELOMERE SYNTHESIS IN EUPLOTES-CRASSUS. MOLECULAR AND CELLULAR BIOLOGY, 14 (1), 554-566. doi: 10.1128/MCB.14.1.554

VERMEESCH, J.R., WILLIAMS, D., PRICE, C.M. (1993). TELOMERE PROCESSING IN EUPLOTES. NUCLEIC ACIDS RESEARCH, 21 (23), 5366-5371. doi: 10.1093/nar/21.23.5366

Books

Matthijs, G., Vermeesch, J., Rondia, K. (Eds.) (2014). Mes Gènes, mon Identité? Comprendre la Génétique & ses Enjeux. (Santé en Soi). Bruxelles: Margada. ISBN: 978-2-8047-0214-4. (professional oriented)
Aerts, J., Borry, P., Decorte, R., Devriendt, K., Dierickx, K., Matthijs, G., Moreau, Y., Schokkaert, E., Swillen, A., Van Esch, H., Verhenneman, G., Vermeesch, J. (2013). Wat met genetica? (Wat met?). Leuven: Lannoo Campus. ISBN: 978-94-014-1146-2. [ACRES] (professional oriented)

Books Chapters

Dimitriadou, E., Vermeesch, J. (2017). Array CGH. In: T. Liehr (Eds.), Fluorescence in situ Hybridization (FISH) – Application Guide, (567-586). Berlin, Heidelberg: Springer. ISBN: 978-3-662-52957-7.
Brady, P., Devriendt, K., Deprest, J., Vermeesch, J. (2012). Array-based approaches in prenatal diagnosis. In: L. Feuk (Eds.), GENOMIC STRUCTURAL VARIANTS: METHODS AND PROTOCOLS, Chapt. 7, (151-171). Springer Science. doi: 10.1007/978-1-61779-507-7_7
Vermeesch, J., Buysse, K. (2012). Genetic testing and chromosomal disorders. In: A. Elzouki, H. Harfi, H. Nazer, F. Stapleton, W. Oh, R. Whitley (Eds.), Textbook of Clinical Pediatrics, Chapt. 4, (39-60). Sprinter. ISBN: 9783642022012.
Vermeesch, J. (2009). Array CGH: Opening new horizons. In: T. Liehr (Eds.), Fluorescence In Situ Hybridization (FISH). Application Guide, Chapt. 35, (421-437). Berlin, Heidelberg: Springer-Verlag. ISBN: 978-3-540-70581-9.

Accepted Books Chapters

Vermeesch, J. (2015). Prenatal diagnosis by microarray analysis. In: J. Milunsky, A. Milunsky (Eds.), Genetic Disorders and the Fetus: Dagnosis, Prevention and Treatment, Chapt. 8. Wiley-Blackwell. ISBN: 978-1-118-98152-8.
Dimitriadou, E., Zamani Esteki, M., Vermeesch, J. (2015). Copy number variation analysis by array analysis of single cells following whole genome amplification? Application of whole-genome technologies: micro-arrays and next generation sequencing. In: T. Kroneis (Eds.), Whole Genome Amplification: Methods and Protocols, Methods in Molecular Biology.. (Methods in Molecular Biology.). New York: Springer.
Vermeesch, J. (2009). Prenatal diagnosis by microarray analysis. In: A. Milunsky, J. Milunsky (Eds.), Genetic Disorders and the Fetus, Chapt. 10, (365-379). Blackwell Publishing.

Conference Proceedings

Van den Bulcke, M., Boccia, S., de Censi, A., Decoster, L., Frederici, A., Kholmanskikh, O., Nowak, F., Peeters, M., Rolfo, C., Schmutzler, R., Salgado, R., Vermeesch, J. (2016). Public Health Genomics in Cancer. In: EUROPEAN JOURNAL OF PUBLIC HEALTH: vol. 26. (URL)
Vermeesch, J., Van den Bogaert, K., Devriendt, K. (2015). Chromosomale microarrays in de prenatale diagnostiek. In: E. Slager (Eds.), Reproductieve geneeskunde, Gynaecologie en Obstetrie anno 2015. XIII: Medische, ethische en juridische aspecten van de klinische genetica in de voortplantingsgeneeskunde, gynaecologie en obstetrie anno 2015, (37-43). Presented at the 20e Nederlands-Vlaams Doelencongres Infertiliteit, Gynaecologie en Obstetrie, Rotterdam, the Netherlands, 11 Apr 2015-24 Apr 2015. Haarlem, the Netherlands.
Van Berkel, K., Vermeesch, J., Caljon, B., Van Dooren, S., Vorsselmans, A., Van Den Bogaers, A., Bonduelle, M. (2015). NIPT present and future. In: E. Slager (Eds.), Reproductieve geneeskunde, Gynaecologie en Obstetrie anno 2015. III: Periconceptie, jonge zwangerschap en antenatale zorg anno 2015, (44-49). Presented at the 20e Nederlands-Vlaams Doelencongres Infertiliteit, Gynaecologie en Obstetrie, Rotterdam, the Netherlands, 11 Apr 2015-24 Apr 2015. Haarlem, the Netherlands.
Vermeesch, J., Brison, N., Van Den Bogaert, K., de Ravel de l'Argentière, T., Devriendt, K. (2015). NIPT in Vlaanderen. In: E. Slager (Eds.), Reproductieve geneeskunde, Gynaecologie en Obstetrie anno 2015. III: Periconceptie, jonge zwangerschap en antenatale zorg anno 2015, (55-59). Presented at the 20e Nederlands-Vlaams Doelencongres Infertiliteit, Gynaecologie en Obstetrie, Rotterdam, the Netherlands, 11 Apr 2015-24 Apr 2015. Fryns, J.P., Petit, P., Vermeersch, J., Devriendt, K., Legius, E. (1997). Clinical and molecular approaches of chromosomal syndromes. In: CYTOGENETICS AND CELL GENETICS: vol. 77 (1-2), (L5-L5). (URL)

Preprints

Zamani Esteki, M., Ardeshirdavani, A., Alcaide, D., Masset, H., Ding, J., Sifrim, A., Kumar, P., Dimitriadou, E., Aerts, J., Voet, T., Moreau, Y., Vermeesch, J.R. with Zamani Esteki, M. (joint first author), Ardeshirdavani, A. (joint first author), Alcaide, D. (joint first author), Masset, H. (joint first author), Ding, J. (joint first author), Zamani Esteki, M. (corresp. author), Voet, T. (corresp. author), Moreau, Y. (corresp. author), Vermeesch, J.R. (corresp. author) (2019). HiVA: an integrative wet- and dry-lab platform for haplotype and copy number analysis of single-cell genomes. bioRxiv. doi: 10.1101/564914

Abstracts/Presentations/Posters

Fernandez, E., Sifrim, A., Chappell, J., Demeulemeester, J., Van Der Haegen, M., Brown, D., Theunis, K., Van Herck, J., Vandereyken, K., Ponting, C., Vermeesch, J., Peeraer, K., Debrock, S., Pasque, V., Voet, T. (2022). A multi-omics genome-plus-transcriptome single-cell atlas of human pre-implantation development reveals the impact of chromosome instability on cell function within the embryo. In: https://watermark.silverchair.com/humrep_37_suppl_1_issue.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAs8wggLLBgkqhkiG9w0BBwagggK8MIICuAIBADCCArEGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMmlNEI2xaGZ6gIb1jAgEQgIICgtq_J0m9rkNQV0x9bAuDzvM_7KijbJneju2c-6UXIkWwwDlFJ94C6vdFIdr8K8li3HPf_Bf7sgJW-3juX-Zx_7yvboM5hnkuh1mmz-1i5hyX8BlnJEvsLH7LeO43nS-YO_Z0tvWs5bW4BmLil-LEDMKnJkpZ8y1uEQyyJN5eCv4gfvO5v0r0LN9OK3mVDestxQNl361STvZVdj3MinAgfLWCn1fhv5xZnjR7T8UeOTlB_MZ4vMLdEQ93bMoz7lTJmKg_AIWY7yqQSrquej6yIjsaqfUSiY7iWHcTAWQxEGXonp8EKI-eghPPVy4N71DykIg7ssXURwpQTWwU129-yxbH7lWtYvzzUskMdwNoyUNA5EDZNPqyPFgelOXS_S7aukJccSvQr3eJB6ypp9MrI2Gqe7DlNcrN0Xoghf8FI81f_vMh1GRyCw-dGW58akSd7g9Zguo9KmvWuL98bbfb0Ydp_mj_NDY5R2SFYIzmVOPRGY24exnO4d-TBKPciSQPYAuB2dOR6cS3eiPYGlav0geTyZo4XaxtyUVVab9HuV05ycqiW7jpdvcyjqFhU4k2FEyCfetYrxzLUzGvVOZKwM9mHkEKQPjCBp9sOOPDu8tBKdR4d8DTrAFv-OPk48YLfKM_3gSPbTqn0HPd8by2yn9yx9lu89iicYZvbdnb_cCxFTma8yxHFT54DEH0xf9mLgEsryuCDexPhuAy-GRpIEoA1A5zle2gGozswCDCeaDsJVfLVQJIQaRyQyUs_2DdL5bQ16YNow-VeX9cs4gn99cwfWfvDLNTejFTQJjFR_GLasK4EAqtT6LEjrVu7tLYud7KArxiD1uHHJUskQUW2n1wrg, (Abstract No. O-236), (149-150). Presented at the 38th Hybrid Annual Meeting of the ESHRE, Milan, Italy, 03 Jul 2022-06 Jul 2022.

Beukeleirs, T., Tsuiko, O., Vancoillie, L., Vermeesch, J., Dimitriadou, E., Vanhie, A. (2022). Prevalence of rare autosomal aneuploidies in pregnancies following assisted reproduction. In: https://watermark.silverchair.com/humrep_37_suppl_1_issue.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAs8wggLLBgkqhkiG9w0BBwagggK8MIICuAIBADCCArEGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMmlNEI2xaGZ6gIb1jAgEQgIICgtq_J0m9rkNQV0x9bAuDzvM_7KijbJneju2c-6UXIkWwwDlFJ94C6vdFIdr8K8li3HPf_Bf7sgJW-3juX-Zx_7yvboM5hnkuh1mmz-1i5hyX8BlnJEvsLH7LeO43nS-YO_Z0tvWs5bW4BmLil-LEDMKnJkpZ8y1uEQyyJN5eCv4gfvO5v0r0LN9OK3mVDestxQNl361STvZVdj3MinAgfLWCn1fhv5xZnjR7T8UeOTlB_MZ4vMLdEQ93bMoz7lTJmKg_AIWY7yqQSrquej6yIjsaqfUSiY7iWHcTAWQxEGXonp8EKI-eghPPVy4N71DykIg7ssXURwpQTWwU129-yxbH7lWtYvzzUskMdwNoyUNA5EDZNPqyPFgelOXS_S7aukJccSvQr3eJB6ypp9MrI2Gqe7DlNcrN0Xoghf8FI81f_vMh1GRyCw-dGW58akSd7g9Zguo9KmvWuL98bbfb0Ydp_mj_NDY5R2SFYIzmVOPRGY24exnO4d-TBKPciSQPYAuB2dOR6cS3eiPYGlav0geTyZo4XaxtyUVVab9HuV05ycqiW7jpdvcyjqFhU4k2FEyCfetYrxzLUzGvVOZKwM9mHkEKQPjCBp9sOOPDu8tBKdR4d8DTrAFv-OPk48YLfKM_3gSPbTqn0HPd8by2yn9yx9lu89iicYZvbdnb_cCxFTma8yxHFT54DEH0xf9mLgEsryuCDexPhuAy-GRpIEoA1A5zle2gGozswCDCeaDsJVfLVQJIQaRyQyUs_2DdL5bQ16YNow-VeX9cs4gn99cwfWfvDLNTejFTQJjFR_GLasK4EAqtT6LEjrVu7tLYud7KArxiD1uHHJUskQUW2n1wrg, (Abstract No. P-541), (452-452). Presented at the 38th Hybrid Annual Meeting of the ESHRE, Milan, Italy, 03 Jul 2022-06 Jul 2022.

Ayeb, Y., Tsuiko, O., Jatsenko, T., Allemeersch, J., Melotte, C., Ding, J., Denayer, E., Legius, E., Brems, H., Vermeesch, J., Dimitriadou, E. (2022). Long-read amplicon guided haplotype imputation enabling comprehensive preimplantation genetic testing in families with de novo pathogenic variants. In: https://watermark.silverchair.com/humrep_37_suppl_1_issue.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAs8wggLLBgkqhkiG9w0BBwagggK8MIICuAIBADCCArEGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMmlNEI2xaGZ6gIb1jAgEQgIICgtq_J0m9rkNQV0x9bAuDzvM_7KijbJneju2c-6UXIkWwwDlFJ94C6vdFIdr8K8li3HPf_Bf7sgJW-3juX-Zx_7yvboM5hnkuh1mmz-1i5hyX8BlnJEvsLH7LeO43nS-YO_Z0tvWs5bW4BmLil-LEDMKnJkpZ8y1uEQyyJN5eCv4gfvO5v0r0LN9OK3mVDestxQNl361STvZVdj3MinAgfLWCn1fhv5xZnjR7T8UeOTlB_MZ4vMLdEQ93bMoz7lTJmKg_AIWY7yqQSrquej6yIjsaqfUSiY7iWHcTAWQxEGXonp8EKI-eghPPVy4N71DykIg7ssXURwpQTWwU129-yxbH7lWtYvzzUskMdwNoyUNA5EDZNPqyPFgelOXS_S7aukJccSvQr3eJB6ypp9MrI2Gqe7DlNcrN0Xoghf8FI81f_vMh1GRyCw-dGW58akSd7g9Zguo9KmvWuL98bbfb0Ydp_mj_NDY5R2SFYIzmVOPRGY24exnO4d-TBKPciSQPYAuB2dOR6cS3eiPYGlav0geTyZo4XaxtyUVVab9HuV05ycqiW7jpdvcyjqFhU4k2FEyCfetYrxzLUzGvVOZKwM9mHkEKQPjCBp9sOOPDu8tBKdR4d8DTrAFv-OPk48YLfKM_3gSPbTqn0HPd8by2yn9yx9lu89iicYZvbdnb_cCxFTma8yxHFT54DEH0xf9mLgEsryuCDexPhuAy-GRpIEoA1A5zle2gGozswCDCeaDsJVfLVQJIQaRyQyUs_2DdL5bQ16YNow-VeX9cs4gn99cwfWfvDLNTejFTQJjFR_GLasK4EAqtT6LEjrVu7tLYud7KArxiD1uHHJUskQUW2n1wrg, (Abstract No. P-561), (462-462). Presented at the 38th Hybrid Annual Meeting of the ESHRE, Milan, Italy, 03 Jul 2022-06 Jul 2022.

De Rycke, M., Capalbo, A., Coonen, E., Coticchio, G., Fiorentino, F., Goossens, V., MCheik, S., Rubio, C., Sermon, K., Sfontouris, I., Spits, C., Vermeesch, J., Vermeulen, N., Wells, D., Zambelli, F., Kakourou, G. (2022). ESHRE good practice recommendations on chromosomal mosaicism. In: https://watermark.silverchair.com/humrep_37_suppl_1_issue.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAs8wggLLBgkqhkiG9w0BBwagggK8MIICuAIBADCCArEGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMmlNEI2xaGZ6gIb1jAgEQgIICgtq_J0m9rkNQV0x9bAuDzvM_7KijbJneju2c-6UXIkWwwDlFJ94C6vdFIdr8K8li3HPf_Bf7sgJW-3juX-Zx_7yvboM5hnkuh1mmz-1i5hyX8BlnJEvsLH7LeO43nS-YO_Z0tvWs5bW4BmLil-LEDMKnJkpZ8y1uEQyyJN5eCv4gfvO5v0r0LN9OK3mVDestxQNl361STvZVdj3MinAgfLWCn1fhv5xZnjR7T8UeOTlB_MZ4vMLdEQ93bMoz7lTJmKg_AIWY7yqQSrquej6yIjsaqfUSiY7iWHcTAWQxEGXonp8EKI-eghPPVy4N71DykIg7ssXURwpQTWwU129-yxbH7lWtYvzzUskMdwNoyUNA5EDZNPqyPFgelOXS_S7aukJccSvQr3eJB6ypp9MrI2Gqe7DlNcrN0Xoghf8FI81f_vMh1GRyCw-dGW58akSd7g9Zguo9KmvWuL98bbfb0Ydp_mj_NDY5R2SFYIzmVOPRGY24exnO4d-TBKPciSQPYAuB2dOR6cS3eiPYGlav0geTyZo4XaxtyUVVab9HuV05ycqiW7jpdvcyjqFhU4k2FEyCfetYrxzLUzGvVOZKwM9mHkEKQPjCBp9sOOPDu8tBKdR4d8DTrAFv-OPk48YLfKM_3gSPbTqn0HPd8by2yn9yx9lu89iicYZvbdnb_cCxFTma8yxHFT54DEH0xf9mLgEsryuCDexPhuAy-GRpIEoA1A5zle2gGozswCDCeaDsJVfLVQJIQaRyQyUs_2DdL5bQ16YNow-VeX9cs4gn99cwfWfvDLNTejFTQJjFR_GLasK4EAqtT6LEjrVu7tLYud7KArxiD1uHHJUskQUW2n1wrg, (Abstract No. O-042), (35-35). Presented at the 38th Hybrid Annual Meeting of the ESHRE, Milan, Italy, 03 Jul 2022-06 Jul 2022.

Duquenne, A., Marichal, A., Baetens, M., Blaumeiser, B., Brison, N., Bruneau, M., Bulk, S., Callewaert, B., Coppens, S., De Leener, A., De Rademaker, M., Désir, J., Devriendt, K., Fieuw, A., Gatot, J.S., Janssens, K., Janssens, S., Meunier, C., Parijs, I., Pichon, B., Rombout, S., Slegers, I., Sznajer, Y., Vanakker, O., Van Berkel, K., Van Coillie, L., Vandernoot, I., Van Den Bogaert, A., Van Den Bogaert, K., Vermeesch, J. (2022). Multicentric longitudinal performance monitoring of different non-invasive prenatal screening technologies used in Belgium. In: https://beshg.be/storage/app/media/Meetings/Abstracts_all.pdf, (Abstract No. T13), (14-14). Presented at the Joint BeSHG / NVHG meeting 2022, Bruges Meeting & Convention Centre, 20 Apr 2022-22 Apr 2022.

Tuveri, S., Debackere, K., Marcelis, L., Dierckxsens, N., Demeulemeester, J., Dimitriadou, E., Dierickx, D., Lefesvre, P., Graux, C., Michaux, L., Deraedt, K., Cools, J., Tousseyn, T., Vermeesch, J., Wlodarska, I. (2022). Primary mediastinal large B-cell lymphoma is hallmarked by large-scale copy-neutral loss of heterozygosity. In: https://beshg.be/storage/app/media/Meetings/Abstracts_all.pdf, (Abstract No. P01), (32-32). Presented at the Joint BeSHG / NVHG meeting 2022, Bruges Meeting & Convention Centre, 20 Apr 2022-22 Apr 2022.

De Borre, M., Che, H., Yu, Q., Lannoo, L., Vancoillie, L., Van Keirsbilck, J., Gyselaers, W., Dreesen, P., Breckpot, J., Devriendt, K., Vermeesch, J., Van Calsteren, K., Thienpont, B. (2022). Methylome analysis of cfDNA to predict preeclampsia presymptomatically. In: https://beshg.be/storage/app/media/Meetings/Abstracts_all.pdf, (Abstract No. P47), (80-80). Presented at the Joint BeSHG / NVHG meeting & Genetics Retreat 2022, Bruges Meeting & Convention Centre, 20 Apr 2022-22 Apr 2022.

Geysens, M., Bossuyt, W., De Baere, E., De Leeneer, K., Devriendt, K., Dheedene, A., Lumaka, A., Luyten, J., Matthijs, G., Menten, B., Meuwissen, M., Monestier, O., Olsen, C., Palmeira, L., Revencu, N., Soblet, J., Souche, E., Sznajer, Y., Van Dooren, S., Vilain, C., Van Den Bogaert, K., Vermeesch, J. (2022). BeSolveRD: The Belgian Genome Resource to Resolve Rare Diseases. In: https://beshg.be/storage/app/media/Meetings/Abstracts_all.pdf, (Abstract No. P63), (95-95). Presented at the Joint BeSHG / NVHG meeting & Genetics Retreat 2022, Bruges Meeting & Convention Centre, 20 Apr 2022-22 Apr 2022.

Cools, R., Vervoort, L., Dierckxsens, N., Heung, T., Peeters, G., Swillen, A., Breckpot, J., McDonald-McGinn, D., Beverly, E., Van Esch, H., S. Bassett, A., Vermeesch, J. (2022). FiberFISH mapping of 22q11.2 rearrangements shows locus heterogeneity. In: https://beshg.be/storage/app/media/Meetings/Abstracts_GeneticsRetreat.pdf. Presented at the Joint Meeting BeSHG/NVHG, BMCC, Brugge.

Che, H., Jatsenko, T., Lenaerts, L., Dehaspe, L., Vancoillie, L., Brison, N., Van Den Bogaert, K., Parijs, I., Lambrechts, D., Coosemans, A., Tejpar, S., Punie, K., Hatse, S., Neven, P., Wildiers, H., Wauters, E., Dooms, C., Wozniak, A., Schöffski, P., Timmerman, D., Vandenberghe, P., Amant, F., Vermeesch, J. (2021). PrgmNr 1066 - Accurate multi-cancer detection and typing by genome-wide cell-free DNA profile data mining. In: https://www.ashg.org/wp-content/uploads/2022/01/2021-ASHG-Meeting-Abstracts.pdf, (Abstract No. 1066). Presented at the ASHG Annual Meeting 2021, Virtual, 18 Oct 2021-22 Oct 2021.

Dimitriadou, E., Ayeb, Y., Jatsenko, T., Melotte, C., Tsuiko, O., Brems, H., Allemeersch, J., Hollants, S., Debrock, S., Peeraer, K., Denayer, E., Legius, E., Vermeesch, J. (2021). Comprehensive PGT for patients with de novo pathogenic variants following single-molecule long read amplicon sequencing based haplotyping. In: Abstract book, (Abstract No. C26.2). Presented at the European Human Genetics Conference, Online, 28 Aug 2021-31 Aug 2021. (URL)

Vervoort, L., Peeters, G., Dierckxsens, N., Dehaspe, L., Vancoillie, L., Van Den Bogaert, K., Melotte, C., Van Esch, H., Vermeesch, J. (2021). 22q11.2 inversion in a mosaic 22q11.2 deletion patient provides insights in LCR22-mediated rearrangements. (Abstract No. C24.6). Presented at the European Human Genetics Conference, Online, 28 Aug 2021-31 Aug 2021. (URL)

Van Den Bogaert, K., Lannoo, L., Brison, N., Gatinois, V., Baetens, M., Blaumeiser, B., Boemer, F., Bourlard, L., Bours, V., De Leener, A., De Rademaeker, M., Désir, J., Dheedene, A., Duquenne, A., Fieremans, N., Fieuw, A., Gatot, J-S., Grisart, B., Janssens, K., Janssens, S., Lederer, D., Marichal, A., Menten, B., Meunier, C., Palmeira, L., Pichon, B., Sammels, E., Smits, G., Sznajer, Y., Vantroys, E., Devriendt, K., Vermeesch, J. (2021). Outcome of publicly funded nationwide first-tier noninvasive prenatal screening. In: Abstract book, (Abstract No. C05.1). Presented at the European Human Genetics Conference, Online, 28 Aug 2021-31 Aug 2021. (URL)

Che, H., Jatsenko, T., Dehaspe, L., Lenaerts, L., Brison, N., Van Den Bogaert, K., Vancoillie, L., Parijs, I., Coosemans, A., Amant, F., Tejpar, S., Punie, K., Wozniak, A., Schoffsi, P., Timmerman, D., Lambrechts, D., Vandenberghe, P., Vermeesch, J. (2021). Cancer detection by mining large cell free DNA sequencing dataset. In: Abstract book, (Abstract No. C03.6). Presented at the European Human Genetics Conference, Online, 28 Aug 2021-31 Aug 2021. (URL)

Siermann, M., Tsuiko, O., Vermeesch, J., Taneli, R., Borry, P. (2021). The views of health care providers on the scope of pre-implantation genetic testing: a systematic review. (Abstract No. P23.034.B / B). Presented at the European Human Genetics Conference, Online, 28 Aug 2021-31 Aug 2021. (URL)

De Bie, J., Dewaele, B., Gielen, O., Rack, K., Maertens, J.A., Segers, H., Vermeesch, J., De Keersmaecker, K., Cools, J., Michaux, L. (2020). Opportunities of Genome Imaging for Genetic Diagnosis in Acute Lymphoblastic Leukemia. In: BLOOD: vol. 136. doi: 10.1182/blood-2020-139541

Frints, S.G M., Ozanturk, A., Rodriguez Criado, G., Grasshoff, U., Field, M., Manouvrier-Hanu, S., Hickey, S., Gripp, K., Bauer, C., Schroeder, C., Toutain, A., Mihalic Mosher, T., Kelly, B.J., White, P., Dufke, A., Moon, S., Koboldt, D.C., Gerkes, E., Van Haeringen, A., Ruivenkamp, C., Mignot, C., Keren, B., Müller, A., Waldmüller, S., Blandfort, M., Kordaß, U., Gardner, K., Trimouille, A., van Roozendaal, K.E P., Haas, S.A., Murray, L., Haan, E., Carroll, R., Liebelt, J., Hobson, L., De Rademaeker, M., Brunner, H., Glatz, J., Devriendt, K., Vermeesch, J., Raynaud, M., Riess, O., Gribnau, J., Katsanis, N., Bauer, P., Gecz, J., Golzio, C., Gontan, C., Kalscheuer, V. (2020). Pathogenic variants in RLIM/RNF12 lead to syndromic X-linked intellectual disability and congenital, neurologic and behavior disorders. In: Abstract book, (Abstract No. C28.1). Presented at the European Society of Human Genetics, Virtual Conference, 06 Jun 2020-09 Jun 2020. (URL)

van Rooij, I., Ludwig, K.U., Welzenbach, J., Ishorst, N., Thonissen, M., Galesloot, T.E., Ongkosuwito, E., Bergé, S.J., Aldhorae, K., Rojas-Martinez, A., Kiemeney, L., Vermeesch, J., Brunner, H., Roeleveld, N., Devriendt, K., Dormaar, T., Hens, G., Kanpp, M., Carels, C., Mangold, E. (2020). Non-syndromic cleft lip with/without cleft palate: Genome-wide association study in patients from the Netherlands and Belgium identifies a suggestive risk locus at 16p12.1 and supports SH3PXD2A as a clefting susceptibility gene. In: Abstract book, (Abstract No. P04.55.A). Presented at the European Society of Human Genetics - Virtual Conference, Online, 06 Jun 2020-09 Jun 2020. (URL) Open Access

Che, H., Villela, D., Dimitriadou, E., Melotte, C., Brison, N., Neofytou, M., Van Den Bogaert, K., Tsuiko, O., Devriendt, K., Legius, E., Zamani Esteki, M., Voet, T., Vermeesch, J. (2020). Non-invasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA. In: Abstract book, (Abstract No. C01.5). Presented at the European Society of Human Genetics, Virtual Conference, 06 Jun 2020-09 Jun 2020. (URL)

Vervoort, L., Demaerel, W., Pereboom, Z., Rocchi, M., Vermeesch, J. (2020). LCR22q11.2 hypervariability is human specific. In: Abstract book, (Abstract No. P13.04.C). Presented at the European Society of Human Genetics, Virtual Conference, 06 Jun 2020-09 Jun 2020. (URL)

Vervoort, L., Demaerel, W., Pereboom, Z., Rocchi, M., Vermeesch, J. (2020). LCR22q11.2 hypervariability is human specific. In: http://www.beshg.be/download/meetings/2020_Brussels/2020_BeSHG_abstractbook.pdf, (Abstract No. O2), (17-17). Presented at the 20th annual BeSHG meeting : Genome for all ?, Brussels, 06 Mar 2020-06 Mar 2020.

Che, H., Dimitriadou, E., Melotte, C., Brison, N., Neofytou, M., Van Den Bogaert, K., Tsuiko, O., Devriendt, K., Legius, E., Zamani Esteki, M., Voet, T., Vermeesch, J. (2020). Non-invasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA. In: Abstract book, (Abstract No. O5), (24-24). Presented at the 20th annual BeSHG meeting : Genome for all ?, Brussels, 06 Mar 2020-06 Mar 2020. (URL)

Vervoort, L., Demaerel, W., Mostovoy, Y., Ylmaz, F., Pastor, S., Hestand, M., Swillen, A., Vergaelen, E., Geiger, E.A., Coughlin, C.R., McDonald-McGinn, D., Morrow, B.E., Kwok, P-Y., Xiao, M., Emmanuel, B.S., Shaikt, T.H., Vermeesch, J. (2019). Optical Mapping of 22q11.2 Low Copy Repeats reveals structural hypervariability. In: Abstract book, (Abstract No. G 08), (25-25). Presented at the NVHG and BeSHG joint annual meeting, Veldhoven, the Netherlands, 19 Sep 2019-20 Sep 2019. (URL)

Brison, N., Dehaspe, L., Melotte, C., Dimitriadou, E., Vancoillie, L., Breckpot, J., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., de Ravel de l'Argentière, T., Legius, E., Devriendt, K., Vermeesch, J., Van Den Bogaert, K. (2019). The landscape of pathogenic copy number variations in healthy, reproducing females. In: Absract book, (Abstract No. T 03), (30-30). Presented at the NVHG and BeSHG joint annual meeting, Veldhoven, the Netherlands, 19 Sep 2019-20 Sep 2019. (URL)

Zamani Esteki, M., Vilrop, T., Tsuiko, O., Tiirats, A., Koel, M., Noukas, M., Ailina, O., Teearu, K., Marjonen, H., Kahila, H., Söderström-Anttila, V., Suikkari, A-M., Tiitinen, A., Mägi, R., Koks, S., Kaminen-Ahola, N., Kurg, A., Voet, T., Vermeesch, J., Salumets, A. (2019). In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages. In: Abstract book, (Abstract No. T 04), (31-31). Presented at the NVHG and BeSHG joint annual meeting, Veldhoven, the Netherlands, 19 Sep 2019-20 Sep 2019. (URL)

Souche, E., Dehaspe, L., Van Den Bogaert, K., Bauters, M., Race, V., Corveleyn, A., Boogaerts, A., Van Bouwel, J., Deman, S., Helsmoortel, C., Bossuyt, W., Matthijs, G., Vermeesch, J. (2019). Validation of whole genome sequencing for the diagnosis of rare diseases. In: Abstract book, (Abstract No. P 011), (59-59). Presented at the NVHG and BeSHG joint annual meeting, Veldhoven, the Netherlands, 19 Sep 2019-20 Sep 2019. (URL)

Vermeesch, J.R. (2019). Somatic chromosomal mosaicism. In: MOLECULAR CYTOGENETICS: vol. 12. (URL)

Vervoort, L., Demaerel, W., Mostovoy, Y., Yilmaz, F., Pastor, S., Hestand, M., Swillen, A., Vergaelen, E., Geiger, A., Coughlin, C.R., Chow, S.K., McDonald-McGinn, D., Morrow, B.E., Kwok, P., Xiao, M., Emmanuel, B.S., Shaikh, T.H., Vermeesch, J. (2019). Optical mapping of 22q11.2 low copy repeats reveals structural hypervariability. In: Online abstracts, (Abstract No. C19.3). Presented at the European Human Genetics Conference, Gothenburg, Sweden, 15 Jun 2019-18 Jun 2019. (URL)

Brison, N., Storms, J., Claeys, K., Dehaspe, L., Dimitriadou, E., Melotte, C., de Ravel de l'Argentière, T., De Waele, L., Goemans, N., Legius, E., Peeters, H., Van Esch, H., Race, V., Vermeesch, J., Devriendt, K., Van Den Bogaert, K. (2019). Maternal copy number variations in the DMD gene as incidental findings in non-invasive prenatal testing. In: Online abstracts, (Abstract No. P01.40D). Presented at the European Human Genetics Conference, Gothenburg, Sweden, 15 Jun 2019-18 Jun 2019. (URL)

McDonald-McGinn, D.M., Unolt, M., Crowley, T.B., McGinn, D.E., Cohen, J., Bailey, A., Lambert, M., Emanuel, B., Zackai, E., Nowakowska, B., Vermeesch, J. (2019). 22q11.2 deletion syndrome and coexisting conditions - an important prognostic, management, and genetic counseling consideration. In: Online abstracts, (Abstract No. P11.04D). Presented at the European Human Genetics Conference, Gothenburg, Sweden, 15 Jun 2019-18 Jun 2019. (URL)

Domaradzka, J., Deperas, M., Obersztyn, E., Kucinska-Chahwan, A., Brison, N., Van Den Bogaert, K., Roszkowski, T., Kedzior, M., Bartnik-Glaska, M., Luszczek, A., Jakubow-Durska, K., Vermeesch, J., Nowakowska, B. (2019). A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC). In: Online abstracts, (Abstract No. P01.48D). Presented at the European Human Genetics Conference, Gotheburg, Sweden, 15 Jun 2019-18 Jun 2019. (URL)

Ardeshirdavani, A., Zamani Esteki, M., Alcaide, D., Masset, H., Ding, J., Sifrim, A., Aerts, J., Voet, T., Moreau, Y., Vermeesch, J. (2019). HiVA: a web platform for haplotyping and copy number analysis of single-cell genomes. In: Online abstracts, (Abstract No. P16.37A). Presented at the European Human Genetics Conference, Gothenburg, Sweden, 15 Jun 2019-18 Jun 2019. (URL)

Souche, E., Herzeel, C., Costanza, P., Decap, D., Dehaspe, L., Cortes Calabuig, A., Vervloesem, F., Maes, G.E., Wuyts, R., Bossuyt, W., Vermeesch, J. (2019). Implementation of WGS in diagnosis through extensive computational optimization. In: Online abstracts, (Abstract No. P16.82B). Presented at the European Human Genetics Conference, Gothenburg, Sweden, 15 Jun 2019-18 Jun 2019. (URL)

Che, H., Vileila, D., Dimitriadou, E., Ding, J., Voet, T., Vermeesch, J. (2019). Genome-wide profiling and haplotyping of cell-free DNA enabling combined non-invasive prenatal diagnosis of inherited monogenic diseases and aneuploidy. In: Final Program, (27-27). Presented at the 18th International Conference on Preimplantation Genetics, Geneva, Switzerland, 15 Apr 2019-18 Apr 2019.

Melotte, C., Ding, J., Dimitriadou, E., Tsuiko, O., Van Den Bogaert, K., Debrock, S., Peeraer, K., Breckpot, J., Denayer, E., Vermeesch, J. (2019). Identity-by-state based comprehensive PGT: advantages and challenges. In: Final Program, (57-57). Presented at the 18th International Conference on Preimplantation Genetics, Geneva, Switzerland, 15 Apr 2019-18 Apr 2019.

Devriendt, K., Vermeesch, J., Dehaspe, L., Bayindir, B., Breckpot, J., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., de Ravel de l'Argentière, T., Legius, E., Melotte, C., Dimitriadou, E., Van Den Bogaert, K., Brison, N. (2019). The landscape of pathogenic copy number variations in healthy, reproducing females. Results from 1 year genome-wide noninvasive prenatal testing. In: Abstract book, (Abstract No. O3), (20-20). Presented at the 19th annual BeSHG meeting: Precision Medicine: Application of Genetics in Prevention and Treatment, Liège, Belgium, 15 Mar 2019-15 Mar 2019. (URL)

Vervoort, L., Demaerel, W., Hestand, M., Swillen, A., Vergaelen, E., Breckpot, J., Devriendt, K., Morrow, B.E., Emmanuel, B., Vermeesch, J. (2019). Optical mapping of 22q11.2 Low Copy Repeats reveals structural interindividual hypervariability. In: Abstract book, (Abstract No. O12), (33-34). Presented at the 19th annual BeSHG meeting: Precision Medicine: Application of Genetics in Prevention and Treatment, Liège, Belgium, 15 Mar 2019-15 Mar 2019. (URL)

Villela, D., Che, H., Van Ghelue, M., Dehaspe, L., Brison, N., Van Den Bogaert, K., Devriendt, K., Lewi, L., Bayindir, B., Vermeesch, J. (2019). Fetal sex determination in twin pregnancies using non-invasive prenatal testing. In: Abstract book, (Abstract No. O14), (37-37). Presented at the 19th annual BeSHG meeting: Precision Medicine: Application of Genetics in Prevention and Treatment, Liège, Belgium, 15 Mar 2019-15 Mar 2019. (URL)

Theunis, K., Dimitriadou, E., Gallardo, E.F., Sifrim, A., Vanuytven, S., Brown, D., Kumar, P., Esteki, M.Z., Van der Aa, N., Vermeesch, J., Voet, T. (2019). Cost effective single-cell sequencing without upfront whole-genome amplification for DNA copy number profiling in human embryos. In: Abstract book, (Abstract No. P49), (107-107). Presented at the 19th annual BeSHG meeting: Precision Medicine: Application of Genetics in Prevention and Treatment, Liège, Belgim, 15 Mar 2019-15 Mar 2019. (URL)

Storms, J., Brison, N., Claeys, K.G., Dehaspe, L., de Ravel de l'Argentière, T., De Waele, L., Goemans, N., Legius, E., Peeters, H., Van Esch, H., Race, V., Vermeesch, J., Van Den Bogaert, K., Devriendt, K. (2019). Maternal copy number variations in the DMD gene as incidental findings in non-invasive prenatal testing. In: Abstract book, (Abstract No. P41), (94-94). Presented at the 19th annual BeSHG meeting: Precision Medicine: Application of Genetics in Prevention and Treatment, Liège, Belgium, 15 Mar 2019-15 Mar 2019. (URL)

Masset, H., Esteki, M., Dimitriadou, E., Dreesen, J., Debrock, S., Derhaag, J., Derks, K., Destouni, A., Drusedau, M., Meekels, J., Melotte, C., Peeraer, K., Tsuiko, O., Van Uum, C., Allemeersch, J., Devogelaere, B., François, K., Happe, S., Lorson, D., Richards, R.L., Theuns, J., Brunner, H., de Die-Smulders, C., Voet, T., Paulussen, A., Coonen, E., Vermeesch, J. (2019). Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-bysequencing. (Abstract No. P44), (98-99). Presented at the 19th annual BeSHG meeting: Precision Medicine: Application of Genetics in Prevention and Treatment, Liège, Belgium, 15 Mar 2019-15 Mar 2019. (URL)

Vermeesch, J. (2019). Pre-implantation genetic diagnosis: state-of-the-art. In: Scientific programme online, (Abstract No. S1-01). Presented at the Pre-implantation genetic diagnosis: state-of-the-art. 30th Annual Meeting of the German Society of Humangenetics together with Austrian Society of Humangenetics (ÖGH) and the Swiss Society of Medical Genetics (SGMG), Weimar, Germany, 06 Mar 2019-08 Mar 2019. (URL)

Monfeuga, T., Epstein, M.P., Holleman, A.M., Cleynen, I., Johnston, H., Zhao, Y., McDonald-McGinn, D.M., Gur, R.E., Warren, S.T., Vermeesch, J., Emanuel, B.S., Morrow, B.E., Bassett, A.S., Williams, N. (2019). SCHIZOPHRENIA POLYGENIC RISK SCORE ANALYSIS IN 22Q11.2 DELETION SYNDROME. In: EUROPEAN NEUROPSYCHOPHARMACOLOGY: vol. 29, (1069-1070). Presented at the 26th World Congress of Psychiatric Genetics (WCPG), Glasgow, SCOTLAND, 11 Oct 2018-15 Oct 2018. doi: 10.1016/j.euroneuro.2018.08.014

Buedts, L., Fornecker, L.M., Finalet-Ferreiro, J., Dehaspe, L., Tousseyn, T., Gheysens, O., Lazarovici, J., Casasnovas, R-O., Copie, C., Verhoef, G., Smits, S., Vermeesch, J., Andre, M., Vandenberghe, P. (2018). Unraveling the Landscape of Copy Number Aberrations in Hodgkin Lymphoma: A Joint KU Leuven and Lysa Study on Circulating Cell Free DNA. In: BLOOD: vol. 132. Presented at the 60th Annual Meeting of the American-Society-of-Hematology (ASH), San Diego, CA, 01 Dec 2018-04 Dec 2018. doi: 10.1182/blood-2018-99-113402

Devriendt, K., Vermeesch, J., Neofytou, M., Dehaspe, L., Bayandir, B., Breckpot, J., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., de Ravel de l'Argentière, T., Legius, E., Melotte, C., Dimitriadou, E., Brison, N., Van Den Bogaert, K. (2018). The landschape of pathogenic copy number variations in healthy, reproducing females. Results from 1 year genome-wide noninvasive prenatal testing. In: Programme Book, (54-54). Presented at the 18th Manchester Dysmorphology Conference, Manchester, UK, 05 Nov 2018-08 Nov 2018.

Lenaerts, L., Brison, N., Neofytou, M., Che, H., Dehaspe, L., Verheecke, M., Maggen, C., Dewaele, B., Vanderschueren, S., Vandecaveye, V., Vandenberghe, P., Vermeesch, J., Amant, F. (2018). Unbiased genomewide screening of circulating plasma DNA for cancer detection. In: ANNALS OF ONCOLOGY: vol. 29, (479-479). Presented at the 43rd ESMO Congress (ESMO), GERMANY, Munich, 19 Oct 2018-23 Oct 2018. (URL)

Vogels, A., Van Buggenhout, G., Weyts, E., Brison, N., D'Haenens, G., Vermeesch, J., Vinas-Jornet, M., Baena, N., Esteba-Castillo, S., Gabau, E., Ribas-Vida, N., Ruiza, A., Novell, R., Guitart, M., Strydom, A., Bass, N., Wolfe, K., McQuillin, A., Thygesen, J.H. (2018). Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders. In: Abstract book. Presented at the Twenty-Ninth European Meeting On Dysmorphology, Strasbourg, France, 06 Sep 2018-07 Sep 2018. (URL)

Vermeesch, J. (2018). Mechanisms of 22q11.2 deletions and duplications. In: Program Guide, (Abstract No. 97), (132-132). Presented at the 11th Biennial International 22q11.2 Conference, Whistler, British Columbia, Canada, 11 Jul 2018-13 Jul 2018.

Vervoort, L., Demaerel, W., Hestand, M., Swillen, A., Vergaelen, E., Breckpot, J., Devriendt, K., Morrow, B.E., Emanuel, B., Vermeesch, J. (2018). Optical mapping of 22q11.2 low copy repeats reveals structural hypervariability. In: Program Guide, (Abstract No. 98), (133-133). Presented at the 11th Biennial International 22q11.2 Conference, Whistler, British Columbia, Canada.

Nowakowska, B., Gambin, T., Geremek, M., Crowley, T.B., Zackai, E.H., Hopkins, S., Vetter, V., McCormick, S., Falk, M., Vermeesch, J., McDonald-McGinn, M. (2018). Alterations in TANGO2 on the intact chromosome 22q11.2 allele as a possible cause of sudden death. In: Program Guide, (Abstract No. 106), (141-141). Presented at the 11th Biennial International 22q11.2 Conference, Whistler, British Columbia, Canada, 11 Jul 2018-13 Jul 2018.

Epstein, M., Cleynen, I., Monfeuga, T., Williams, N., Merico, D., Johnston, H.R., Demaerel, W., Hestand, M., Heung, T., Engchuan, W., marshall, C., Zhao, Y., McDonald-McGinn, D., Gur, R., Warren, S., Vermeesch, J., Emanuel, B., Morrow, B., Bassett, A. (2018). Schizophrenia-relevant collections of genes from the rest of the genome contribute to schizophrenia expression in 22q11.2DS. In: Program Guide, (Abstract No. 108), (143-143). Presented at the 11th Biennial International 22q11.2 Conference, Whistler, British Columbia, Canada, 11 Jul 2018-13 Jul 2018.

Williams, N., Epstein, M., Monfeuga, T., Holleman, A., Cleynen, I., Merico, D., Johnston, H.R., Demaerel, W., Hestand, M., Heung, T., Engchuan, W., Marshall, C., Zhao, Y., McDonald-McGinn, D., Gur, R., Warren, S., Vermeesch, J., Emanuel, B., Morrow, B., Bassett, A. (2018). Schizophrenia polygenic risk score analysis in 22q11.2 deletion syndrome. In: Program Guide, (Abstract No. 109), (144-144). Presented at the 11th Biennial International 22q11.2 Conference, Whistler, British Columbia, Canada, 11 Jul 2018-13 Jul 2018.

McGinn, D.E., Crowley, T.B., Unolt, M., Emanuel, B.S., Zackai, E.H., Moss, E., Morrow, B., Vermeesch, J., Swillen, A., McDonald-McGinn, D.M. (2018). Maternal origin of familial 22q11.2 deletions negatively impacts FSIQ scores. In: Program Guide, (Abstract No. 53), (88-88). Presented at the 11th Biennial International 22q11.2 Conference, Whistler, British Columbia, Canada, 11 Jul 2018-13 Jul 2018.

Gurr, R., Bassett, A., McDonald-McGinn, D., Bearden, C., CHOW, E., Emanuel, B., Owen, M., Swillen, A., Van den Bree, M., Vermeesch, J., Vorstman, J., Warren, S., Morrow, B. (2018). The international 22q11.2DS brain behavior consortium: challenges and opportunities. In: Program Guide, (Abstract No. 59), (94-94). Presented at the 11th Biennial International 22q11.2 Conference, Whistler, British Columbia, Canada, 11 Jul 2018-13 Jul 2018.

De Borre, M., Hestand, M., Nowakowska, B., Vergaelen, E., Sifrim, A., Demaerel, W., Swillen, A., Vermeesch, J., Breckpot, J. (2018). Contribution of rare hemizygous variants to phenotypic variability in 22q11.2DS. In: Program Guide, (Abstract No. 73), (108-108). Presented at the 11th Biennial International 22q11.2 Conference, Whistler, British Columbia, Canada, 11 Jul 2018-13 Jul 2018.

Neofytou, M., Brison, N., Dehaspe, L., Bayindir, B., Van Den Bogaert, K., Peeters, H., Van Buggenhout, G., Vogels, A., Breckpot, J., de Ravel de l'Argentière, T., Legius, E., Devriendt, K., Vermeesch, J., Dardour Ep Ferhi, L. (2018). Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing. In: PRENATAL DIAGNOSIS: vol. 38 (S1), (Abstract No. 5-1), (12-13). Presented at the 22nd International Conference on Prenatal Diagnosis and Therapy, Antwerp, Belgium, 08 Jul 2018-11 Jul 2018.

Ding, J., Destouni, A., Vermeesch, J. (2018). Haplotyping and copy number profiling of single cells by using extended family members: Broadening the applicability of PGD. In: PRENATAL DIAGNOSIS: vol. 38 (S1), (Abstract No. 4-2), (11-11). Presented at the 22nd International Conference on Prenatal Diagnosis and Therapy, Antwerp, Belgium, 08 Jul 2018-11 Jul 2018.

Muys, J., Blaumeiser, B., Jacquemyn, Y., Devriendt, K., Janssens, S., Keymolen, K., Rombout, S., Gatot, J-S., Desir, J., Sznajer, Y., Meuwissen, M., Vermeesch, J., Menten, B., Fieuw, A., Parmentier, B., Bulk, S., Pichon, B., Bandelier, C., Fransen, E., Van Den Bogaert, K., Dheedene, A., De Rademaeker, M., Destree, A., Courtens, W., Deleener, A., Brison, N., Vanakker, O., Van Den Bogaert, A., Jamar, M., Chiarappa, P., Lederer, D., The Belgian Microarray Prenatal Consortium (BEMAPR, , Jansssens, K. (2018). The BElgian PREnatal MicroArray consortium: Towards relating prenatally detected CNVs, prenatal phenotype and postnatal clinical data. In: PRENATAL DIAGNOSIS: vol. 38 (S1), (Abstract No. E-1), (17-17). Presented at the 22nd International Conference on Prenatal Diagnosis and Therapy,, Antwerp, Belgium, 08 Jul 2018-11 Jul 2018.

Lenaerts, L., Vermeesch, J., Brison, N., Neofytou, M., Verheecke, M., Dehaspe, L., Wildiers, H., Hatse, S., Amant, F. (2018). Sensitivity of non-invasive prenatal testing for cancer detection and treatment monitoring in pregnant women. In: PRENATAL DIAGNOSIS: vol. 38 (S1), (Abstract No. E-3), (18-18). Presented at the 22nd International Conference on Prenatal Diagnosis and Therapy, Antwerp, Belgium, 08 Jul 2018-11 Jul 2018.

Paulussen, A., Melotte, C., Coonen, E., Dreesen, J., Dumoulin, J., Van Uum, C., Drüsedau, M., Engelen, J., Derks, K., Van Golde, R., Dimitriadou, E., Masset, H., François, K., Allemeersch, J., Richards, R., Moeys, S., Theuns, J., Zamani Esteki, M., de Die-Smulders, C., Vermeesch, J. (2018). OnePGT: A single workflow for concurrent PGT-M, PGT-SR and PGT-A on blastomere and trophectoderm biopsies. In: PRENATAL DIAGNOSIS: vol. 38 (S1), (Abstract No. 2-4), (8-9). Presented at the 22nd International Conference on Prenatal Diagnosis and Therapy, Antwerp, Belgium, 08 Jul 2018-11 Jul 2018.

van Riel, M., Neofytou, M., Vermeesch, J., Timmerman, D. (2018). Cell-based non-invasive prenatal diagnosis via endocervical sampling. In: PRENATAL DIAGNOSIS: vol. 38 (S1), (Abstract No. P2-29), (77-78). Presented at the 22nd International Conference on Prenatal Diagnosis and Therapy, Antwerp, Belgium, 08 Jul 2018-11 Jul 2018.

Frints, S., Ozanturk, A., Rodriguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., Manouvrier-Hanu, S., Hickey, S., Kammoun, M., Gripp, K., Bauer, C., Schroeder, C., Toutain, A., Mihalic Mosher, T., Kelly, B., White, P., Dufke, A., Rentmeester, E., Mooon, S., Koboldt, D., van Roozendaal, K., Hu, H., Haas, S.A., Ropers, H-H., Murray, L., Haan, E., Shaw, M., Carroll, R., Friend, K., Liebelt, J., Hobson, L., De Rademaeker, M., Geraedts, J., Fryns, J-P., Vermeesch, J., Raynaud, M., Riess, O., Gribnau, J., Katsanis, N., Devriendt, K., Bauer, P., Gecz, J., Golzio, C., Gontan, C., Kalscheuer, V. (2018). Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 cause a variable X-Linked congenital malformation syndrome with intellectual disability. In: PRENATAL DIAGNOSIS: vol. 38 (S1), (Abstract No. P2-69), (90-91). Presented at the 22nd International Conference on Prenatal Diagnosis and Therapy, Antwerp, Belgium, 08 Jul 2018-11 Jul 2018.

Kammoun, M., Souche, E., Ding, J., Cosemans, N., Gratacos, E., Devriendt, K., Eixarch, E., Deprest, J., Vermeesch, J. (2018). Isolated congenital diaphragmatic hernia: Novel genes identification and genotype-phenotype analysis. In: PRENATAL DIAGNOSIS: vol. 38 (S1), (Abstract No. P2-101), (102-102). Presented at the 22nd International Conference on Prenatal Diagnosis and Therapy, Antwerp, Belgium, 08 Jul 2018-11 Jul 2018.

Van Ghelue, M., Dehaspe, L., Brison, N., Van Den Bogaert, K., Bayindir, B., Vermeesch, J., Villela, D. (2018). Predicting fetal gender of twins using non‐invasive prenatal screening of cellfree DNA. In: PRENATAL DIAGNOSIS: vol. 38 (S1), (Abstract No. P2-135), (113-113). Presented at the 22nd International Conference on Prenatal Diagnosis and Therapy, Antwerp, Belgium, 08 Jul 2018-11 Jul 2018.

Melotte, C., Dimitriadou, E., Esteki, M.Z., Masset, H., Francois, K.O., Allemeersch, J., Richards, R., Moeys, S., Theuns, J., Vermeesch, J.R. (2018). External verification of the Agilent Technologies OnePGT solution for PGT-M on blastomere and trophectoderm biopsies from UZ Leuven. In: HUMAN REPRODUCTION: vol. 33, (422-423). Presented at the 34th Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE), SPAIN, Barcelona, 01 Jun 2018-04 Jun 2018. (URL)

Brison, N., Neofytou, M., Dehaspe, L., Bayindir, B., Van Den Bogaert, K., Dardoer, L., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., Breckpot, J., de Ravel de l'Argentière, T., Legius, E., Devriendt, K., Vermeesch, J.R. (2018). Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing. In: Online abstracts, (Abstract No. P01.62B / B). Presented at the European Human Genetics Conference in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Milan, Italy, 16 Jun 2018-19 Jun 2018. (URL)

McGinn, D.E., Unolt, M., Crowley, T.B., Emanuel, B.S., Zackai, E.H., Moss, E., Morrow, B., Nowakowska, B., Vermeesch, J., Swillen, A., McDonald-McGinn, D.M. (2018). Parent of origin in familial 22q11.2 deletions impacts full scale intelligence quotient scores. In: Online abstracts, (Abstract No. E-P01.01). Presented at the European Human Genetics Conference in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Milan, Italy, 16 Jun 2018-19 Jun 2018. (URL)

Altiner, S., Boogaerts, A., Vermeesch, J., Van Den Bogaert, K. (2018). Increased diagnostic yield with exon-focused array platforms. In: Online abstracts, (Abstract No. P14.002B / B). Presented at the European Human Genetics Conference in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Milan, Italy, 16 Jun 2018-19 Jun 2018. (URL)

Van Den Bogaert, K., Brison, N., BESHG Workgroup on prenatal genetic testing, , de Ravel de l'Argentière, T., Devriendt, K., Vermeesch, J. (2018). Principles guiding prenatal testing in the Belgian genetic centers. In: Abstract book, (36-36). Presented at the Curating the Clinical Genome, Wellcome Genome Campus Advanced courses and Scientific Conferences, Hinxton, Cambridge, UK, 23 May 2018-25 May 2018. (professional oriented)

Vermeesch, J. (2018). Towards comprehensive PGT. In: Program guide, (9-9). Presented at the 17th Annual International Conference on Preimplantation Genetics (PGDIS 2018), Bangkok, Thailand, 03 May 2018-06 May 2018. (professional oriented)

Brison, N., Neofytou, M., Dehaspe, L., Bayindir, B., Van Den Bogaert, K., Dardour, L., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., de Ravel de l'Argentière, T., Legius, E., Devriendt, K., Vermeesch, J. (2018). Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing. In: Abstract book, (Abstract No. P32), (66-66). Presented at the 18th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Gent, 16 Feb 2018-16 Feb 2018.

Fernandez Gallardo, E., Sifrim, A., Brown, D., Hollanders, L., Debrock, S., Vermeesch, J., Voet, T. (2018). Parallel single cell genome and transcriptome sequencing to study the genomic instability during human embryonic preimplantation development. In: Abstract book, (Abstract No. O5), (19-19). Presented at the 18th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Gent, 16 Feb 2018-16 Feb 2018.

Masset, H., Zamani Esteki, M., Dimitriadou, E., Melotte, C., Debrock, S., Peeraer, K., Voet, T., Vermeesch, J. (2018). Haplotyping and copy-number profiling of single cells by massive parallel sequencing. In: Abstract book, (Abstract No. O6), (20-20). Presented at the 18th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Gent, 16 Feb 2018-16 Feb 2018.

Kammoun, M., Maas, E., Deprest, J., Gribnau, J., Devriendt, K., Zwijsen, A., Vermeesch, J. (2018). RLIM mutations cause a different phenotype in humans and in mice with a possible common molecular mechanism. In: Abstract book, (Abstract No. P55), (91-91). Presented at the 18th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Gent, 16 Feb 2018-16 Feb 2018.

Ardui, S., Vermeesch, J. (2018). Development of Targeted, Amplification Free Single Molecule Real-Time (SMRT) Sequencing of the FMR1 CGG repeat. In: Abstract book, (Abstract No. P51), (87-87). Presented at the 18th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Gent, 16 Feb 2018-16 Feb 2018. (professional oriented)

Dastidar, S., Ardui, S., Singh, K., Nair, N., Fu, Y., Reyon, D., Samara, E., Gerli, M.F M., Klein, A.F., DeSchrijver, W., Majumdar, D., Tipanee, J., Seneca, S., Tulalamba, W., Wang, H., Chai, Y.C., In't Veld, P., Furling, D., Tedesco, F.S., Vermeesch, J.R., Joung, J.K., Chuah, M.K., VandenDriessche, T. (2017). CRISPR/Cas9-mediated editing for dominant genetic disorders: efficient excision of trinucleotide repeat expansion in myotonic dystrophy. In: HUMAN GENE THERAPY: vol. 28 (12), (A7-A7). Presented at the European-Society-of-Gene-and-Cell-Therapy (ESCGT) Congress, GERMANY, Berlin, 01 Jan 2017. (URL)

McGinn, D., Crowley, T., Unolt, M., Emanuel, B., Zakai, E., Moss, E., Morrow, B., Vermeesch, J., Swillen, A., McDonald-Mc-Ginn, D. (2017). Maternal origin of familial 22q11.2 deletions negatively impacts FSIQ. In: Online poster abstracts, (Abstract No. 527T), (78-78). Presented at the American Society of Human Genetics 67th Annual Meeting, Orlando, Florida, 17 Oct 2017-21 Oct 2017.

McGinn, D., Unolt, M., Crowley, T., Emanuel, B., Zackai, E., Moss, E., Morrow, B., Vermeesch, J., Swillen, A. (2017). Maternal Origin of Familial 22q11.2 deletions negatively impacts FSIQ scores. In: Journal of Intellectual Disability Research: vol. 61 (9), (Abstract No. Talk 21), (832-833). Presented at the 20th SSBP International Research Symposiium “Genetic Disorders and Neurobehavioural Phenotypes”, Leiden, the Netherlands, 14 Sep 2017-16 Sep 2017.

Van Sandt, V., Senev, A., Kerkhofs, J., Hestand, M., Vermeesch, J., Naesens, M., Emonds, M-P. (2017). DEVELOPMENT OF SINGLE MOLECULE REAL TIME SEQUENCING OF THE HLA GENOME FOR IMPROVED HIGH-RESOLUTION HLA GENOTYPING. In: TRANSPLANT INTERNATIONAL: vol. 30, (265-265). (URL) Masset, H., Fernandez Gallardo, E., Peters, M., Rodriguez Iglesias, B., Dimitriadou, E., Zamani Esteki, M., Debrock, S., Peeraer, K., Voet, T., Vermeesch, J. (2017). Combining time-lapse imaging and genome-wide haplotyping reveals novel mechanisms underlying chimerism, mixoploidy and aneuploidy formation in human preimplantation embryos. In: Program book, (Abstract No. G 06), (18-18). Presented at the NVHG Two-Day Annual Symposium, Eindhoven, the Netherlands, 21 Sep 2017-22 Sep 2017.

Breckpot, J., Van Buggenhout, G., Weyts, E., D'Haenens, G., Vandevoort, S., Vercruyssen, M., Brison, N., Vermeesch, J., Devriendt, K., Vogels, A. (2017). Catatonia in adults with Phelan-Mc Dermid syndrome. In: Programme Book, (Abstract No. Poster 38), (107-107). Presented at the 20th SSBP International Research Symposiium “Genetic Disorders and Neurobehavioural Phenotypes”, Leiden, the Netherlands, 14 Sep 2017-16 Sep 2017.

Vermeesch, J. (2017). The embryo is the cradle of chromosomal disorders. In: Program book, (Abstract No. G 07), (19-19). Presented at the NVHG Two-Day Annual Symposium, Eindhoven, the Netherlands, 21 Sep 2017-22 Sep 2017. Tommerup, N., Fonseca, A.C., Mehrjouy, M., Rasmussen, M.B., Bache, I., Halgren, C., Kroisel, P., Midyan, S., Vermeesch, J., Vianna-Morgante, A.M., Abe, K.T., Moretti-Ferreira, D., Paskulin, G., Angelova, L., Rajcan-Separovic, E., Sismani, C., Sedlacek, Z., Fagerberg, C., Brondum-Nielsen, K., Vogel, I., Bojesen, A., Öunap, K., Roht, L., Varilo, T., Luukkonen, T., Lespinasse, J., Beneteau, C., Kalscheuer, V.M., Ehmke, N., Daumer-Haas, C., Stefanou, E.G., Czako, M., Kosztolanyi, G., Sheth, F., Zuffardi, O., Bonaglia, C., Novelli, A., Fannemel, M., Dias, P., Kokalj-Vokac, N., Ramos-Arroyo, M.A., Rodriguez Martinez, L., Guitart, M., Schinzel, A., Engelen, J., Silan, F., Akkari, Y., Batanian, J.R., Kim, H-G., Aristidou, C., De Almeida, C., Lewis, S., Moreno-Igoa, M., Hovhannisyan, A., Jacky, P., Bak, M., International Breakpoint Mappng Consortium, (2017). NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers. In: Molecular Cytogenetics: vol. 10, (Abstract No. 7.P1), (70-70). Presented at the 11th European Cytogenetics Conference, Florence, Italy, 01 Jul 2017-04 Jul 2017. doi: 10.1186/s13039-017-0319-3

Mehrjouy, M.M., Bak, M., Luianez, D.G., Heinrich, V., Vermeesch, J., Schinzel, A., Schönewolf-Greulich, B., Bache, I., Mundlos, S., Tommerup, N. (2017). Enhancer swapping dual loss and gains of enhancers by balanced translocations and inversions between highly conserved regulatory domains. In: Molecular Cytogenetics: vol. 10, (Abstract No. 6.P1), (68-69). Presented at the 11th European Cytogenetics Conference, Florence, Italy, 01 Jul 2017-04 Jul 2017. doi: 10.1186/s13039-017-0319-3 Van Den Bogaert, K., Brison, N., Dimitriadou, E., Melotte, C., Dehaspe, L., Destouni, A., Breckpot, J., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., Legius, E., de Ravel de l'Argentière, T., Devriendt, K., Vermeesch, J. (2017). The majority of uncommon chromosomal imbalances detected by NIPT are postzygotic (feto)placental mosaics. In: Molecular Cytogenetics: vol. 10, (Abstract No. O17), (13-13). Presented at the 11th European Cytogenetics Conference, Florence, Italy, 01 Jul 2017-04 Jul 2017. doi: 10.1186/s13039-017-0319-3

Van Sandt, V., Senev, A., Daniels, L., Kerkkhofs, J., Hestand, M.S., Vermeesch, J., Naesens, M., Emonds, M-P. (2017). New HLA genotyping technologies offer the opportunity to better assess the donor-recipient HLA mismatch in solid organ transplantation. In: HLA Immune Response Genetics: vol. 29 (6), (Abstract No. P8), (387-387). Presented at the 31st European Immunogenetics and Histocompatibility Conference (EFI) 25th Annual Meeting of the German Society for Immunogenetics (DGI), Mannheim, Heidelberg, Germany, 31 May 2017-02 Jun 2017.

Rack, K., Giardino, D., Simonic, I., Suela, J., Van Den Bogaert, K., Lovrecic, L., Morgan, S., Guerneri, S., Hastings, R. (2017). Prenatal CNV classification and reporting survey from 60 European centres. In: Molecular Cytogenetics: vol. 10, (Abstract No. 3.P25), (58-59). Presented at the 11th European Cytogenetics Conference, Florence, Italy, 01 Jul 2017-04 Jul 2017. doi: 10.1186/s13039-017-0319-3

Melotte, C., Dimitriadou, E., Debrock, S., Devriendt, K., de Ravel de l'Argentière, T., Legius, E., Peeraer, K., Vermeesch, J. (2017). Prenatal CNV classification and reporting survey from 60 European centres. In: Molecular Cytogenetics: vol. 10, (Abstract No. 3.P9), (54-55). Presented at the 11th European Cytogenetics Conference, Florence, Italy, 01 Jul 2017-04 Jul 2017. doi: 10.1186/s13039-017-0319-3

Van Esch, H., Cristofoli, F., De Keersmaecker, B., De Catte, L., Vermeesch, J. (2017). STIL compound heterozygous mutations cause microcephaly via centriolar lengthening. In: Online abstracts, (Abstract No. P11.111C). Presented at the ESHG European Human Genetics Conference, Copenhagen, Denmark, 27 May 2017-30 May 2017.

Kammoun, M., Brady, P., Maas, E., Gribnau, J., Deprest, J., Devriendt, K., Zwijsen, A., Vermeesch, J. (2017). RLIM is a new candidate gene for congenital diaphragmatic hernia. In: Online abstracts, (Abstract No. P11.099C). Presented at the ESHG European Human Genetics Conference, Copenhagen, Denmark, 27 May 2017-30 May 2017.

Zamani Esteki, M., Viltrop, T., Tiirats, A., Tsuiko, O., Koel, M., Noukas, M., Zilina, O., Magi, R., Koks, S., Kurg, A., Voet, T., Vermeesch, J., Salumets, A. (2017). In vitro fertilization has no effect on prevalence of mosaic copy-number alterations in fetal and placental lineages. In: Online abstracts, (Abstract No. P01.083C). Presented at the ESHG European Human Genetics Conference, Copenhagen, Denmark, 27 May 2017-30 May 2017.

Ziemkiewicz, K., Hestand, M., Smyk, M., Crowley, T., Breckpot, J., Swillen, A., Kutkowska-Kazmierczak, A., Piotrowicz, M., Gieruszczak-Bialek, B., McDonald-McGinn, D., Vermeesch, J., Nowakowska, B. (2017). Investigation of genetic variants in patients with 22q11.2 Deletion Syndrome. In: Online abstracts, (Abstract No. P11.005A). Presented at the ESHG European Human Genetics Conference, Copenhagen, Denmark, 27 May 2017-30 May 2017.

Vermeesch, J. (2017). Haplarithmisis for human embryo select. In: Online abstracts, (Abstract No. E10.2). Presented at the ESHG European Human Genetics Conference, Copenhagen, Denmark, 27 May 2017-30 May 2017.

Dimitriadou, E., Brison, N., Van Den Bogaert, K., Melotte, C., Dehaspe, L., Destouni, A., Peeters, H., Van Esch, H., de Ravel de l'Argentière, T., Legius, E., Devriendt, K., Vermeesch, J. (2017). A majority of chromosomal imbalances detected by NIPT are postzygotic in origin and are fetoplacental mosaics. In: Online abstracts, (Abstract No. P01.065A). Presented at the ESHG European Human Genetics Conference, Copenhagen, Denmark, 27 May 2017-30 May 2017.

Brison, N., Van Den Bogaert, K., Dehaspe, L., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., Breckpot, J., de Ravel de l'Argentière, T., Legius, E., Devriendt, K., Vermeesch, J. (2017). Diagnostic value of non-invasive prenatal testing (NIPT) using genomic imbalance profiling (GIPseq). In: Online abstracts, (Abstract No. C15.3). Presented at the ESHG European Human Genetics Conference, Copenhagen, Denmark, 27 May 2017-30 May 2017.

Hestand, M., Nowakowska, B., Vergaelen, E., Demaerel, W., Breckpot, J., Cutler, D., Crowley, T., Armando, M., Philip, N., Repetto, G., Schneider, M., Eliez, S., Devriendt, K., McDonald-McGinn, D., Morrow, B., Swillen, A., Vermeesch, J. (2017). Reverse phenotyping of whole-genome sequencing data from patients with 22q11.2 deletions identifies an extensive catalog of broader phenotypic variability and benign variation in pathogenic disease genes. In: Online abstracts, (Abstract No. C2à;§). Presented at the ESHG European Human Genetics Conference, Copenhagen, Denmark, 27 May 2017-30 May 2017.

Ding, J., Dimitriadou, E., Destouni, A., Melotte, C., Vermeesch, J. (2017). Haplotyping single cells by using extended family members: an expanding option for PGD. In: Online abstracts, (Abstract No. P01.039C). Presented at the ESHG European Human Genetics Conference, Copenhagen, Denmark, 27 May 2017-30 May 2017.

Demaerel, W., Hestand, M.S., Vergaelen, E., Swillen, A., Lopez-Sanchez, M., Perez-Jurado, L.A., McDonald-McGinn, D.M., Zackai, E.H., Emanuel, B.S., Morrow, B.E., Breckpot, J., Devriendt, K., Vermeesch, J., Int 22q11 2 Brain & Behav Consort, , Schneider, M. (contr.) (2017). Nested inversion polymorphisms predispose for chromosome 22q11.2 rearrangements. In: Online abstracts, (Abstract No. P13.03C). Presented at the ESHG European Human Genetics Conference, Copenhagen, Denmark, 27 May 2017-30 May 2017. Melotte, C., Dimitriadou, E., Debrock, S., Devriendt, K., de Ravel de l'Argentière, T., Legius, E., Peeraer, K., Vermeesch, J. (2017). Transfer of aneuploid embryos following preimplantation gegnetic diagnosis: the added value of a haplotypign-base genome-wide approach. In: Abstract book, (Abstract No. P-16), (36-36). Presented at the 16th International Conference on Preimplantation Genetics, Valencia, Spain, 26 Mar 2017-29 Mar 2017. Masset, H., Fernandez Gallardo, E., Peters, M., Rodriguez Iglesias, B., Dimitriadou, E., Destouni, A., Zamani Esteki, M., Debrock, S., Peeraer, K., Voet, T., Vermeesch, J. (2017). Combining time-lapse imaging and genome-wide haplotyping reveals novel mechanisms underlying chimerism, mixoploidy and aneuploidy formation in human preimplantation embryos. In: Online abstracts. Presented at the 27th Genetics Retreat 2017 “Genetics and Cell Biology”, Kerkrade, the Netherlands, 16 Mar 2017-17 Mar 2017. Masset, H., Dimitriadou, E., Zamani Esteki, M., Voet, T., Vermeesch, J. (2017). Haplotyping and copy-number profiling of single cells by massive parallel sequencing. In: Abstract book, (Abstract No. OC-03), (3-3). Presented at the 16th International Conference on Preimplantation Genetics, Valencia, Spain, 26 Mar 2017-29 Mar 2017. Cosemans, N., Vandenhove, L., Peeters, G., de Ravel de l'Argentière, T., Devriendt, K., Legius, E., Van Buggenhout, G., Van Esch, H., Vogels, A., Vermeesch, J., Peeters, H. (2017). The clinical relevance of intragenic NRXN1 deletions. In: Abstract book, (Abstract No. O16), (36-37). Presented at the Annual BeSHG Meeting "Human Genetics Goes Somatic", Louvain-la-Neuve, Belgium, 17 Feb 2017-17 Feb 2017. Tšuiko, O., Catteeuw, M., Zamani Esteki, M., Destouni, A., Pascottini, O., Besenfelder, U., Havlicek, V., Smits, K., Kurg, A., Salumets, A., D'Hooghe, T., Voet, T., Van Soom, A., Vermeesch, J. (2017). In vitro procedures exacerbate chromosome instability in cleavage-stage embryos. In: Abstract book, (Abstract No. O8), (26-26). Presented at the 17th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Louvain-La-Neuve, Belgium, 17 Feb 2017-17 Feb 2017. Kammoun, M., Brady, P., Souche, E., Dehaspe, L., Deprest, J., Devriendt, K., Vermeesch, J. (2017). Value of gene panel targeted next generation sequencing in the diagnostic of genetics causes of isolated congenital diaphragmatic hernia. In: Abstract book, (Abstract No. P38), (82-82). Presented at the 17th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Louvain-La-Neuve, Belgium, 17 Feb 2017-17 Feb 2017. Masset, H., Peters, M., Dimitriadou, E., Destouni, A., Zamani Esteki, M., Debrock, S., Peeraer, K., Voet, T., Vermeesch, J. (2017). Genome-wide haplotyping uncovers mixoploidy in blastocysts of human preimplantation embryos. In: Abstract book, (Abstract No. P45), (89-89). Presented at the 17th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Louvain-La-Neuve, Belgium, 17 Feb 2017-17 Feb 2017. Fernandez Gallardo, E., Zamani Esteki, M., Van der Aa, N., Szanto, C., Masset, H., Kumar, P., Ardeshirdavani, A., Alcaide, D., Dimitriadou, E., Theunis, K., Aerts, J., Moreau, Y., Debrock, S., De Neubourg, D., D'Hooghe, T., Vermeesch, J., Voet, T. (2017). Single-cell genome sequencing to characterize chromosome instability in human cleavage stage embryos. In: Abstract book, (Abstract No. P55), (101-101). Presented at the 17th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Louvain-La-Neuve, Belgium, 17 Feb 2017-17 Feb 2017. Ardui, S., Race, V., Zablotskaya, A., Hestand, M., Van Esch, H., Devriendt, K., Matthijs, G., Vermeesch, J. (2017). Detecting AGG interruptions in male and female FMR1 premutation carriers by single-molecule sequencing. In: Abstract book, (Abstract No. O9), (27-27). Presented at the 17th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Louvain-La-Neuve, Belgium, 17 Feb 2017-17 Feb 2017. Hestand, M., Nowakowska, B., Demaerel, W., Cutler, D.J., Swillen, A., Vermeesch, J., International 22q11.2 Brain Behavior Consortiu (IB, (2017). Determining the deletion, repeat composition, and pathogenic hemizygous variants in ~400 whole-genome sequenced patients with the 22q11.2 deletion syndrome. In: Abstract book, (Abstract No. P20), (60-60). Presented at the 17th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Louvain-La-Neuve, Belgium, 17 Feb 2017-17 Feb 2017. Dimitriadou, E., Ding, J., Melotte, C., Van Den Bogaert, K., Zamani Esteki, M., Voet, T., Devriendt, K., de Ravel de l'Argentière, T., Legius, E., Vermeesch, J. (2017). Expanding preimplantation genetic diagnostic options. In: Abstract book, (Abstract No. P43), (82-82). Presented at the 17th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Louvain-La-Neuve, Belgium, 17 Feb 2017-17 Feb 2017. Demaerel, W., Hestand, M., Vergaelen, E., Swillen, A., Lopez-Sanchez, M., Perez-Jurado, L.A., McDonald-McGinn, D.M., Emanuel, B.S., Morrow, B.E., Vermeesch, J. (2017). Nested inversion polymorphisms predispose for chromosome 22q11.2 rearrangements. In: Abstract book, (Abstract No. P61), (108-108). Presented at the 17th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Louvain-La-Neuve, Belgium, 17 Feb 2017-17 Feb 2017. Herten, K., Souche, E., Dehaspe, L., Vermeesch, J., Van Houdt, J. (2017). Analytical and computational performance of variant calling pipelines for targeted NGS gene panels. In: Abstract book, (Abstract No. P64), (113-113). Presented at the 17th BeSHG Annual Meeting “Human Genetics Goes Somatic”, Louvain-La-Neuve, Belgium, 17 Feb 2017-17 Feb 2017. Van Sandt, V., Senev, A., Daniels, L., Hestand, M.S., Vermeesch, J., Naesens, M., Emonds, M-P. (2017). NEW HLA GENOTYPING TECHNOLOGIES OFFER THE OPPORTUNITY TO BETTER ASSESS THE DONOR-RECIPIENT HLA MISMATCH IN SOLID ORGAN TRANSPLANTATION. In: HLA: vol. 89 (6), (387-387). Presented at the EFI meeting. Dastidar, S., Singh, K., Nair, N., Fu, Y., Reyon, D., Samara, E., Gerli, M.F M., Klein, A.F., Jans, T., Tipanee, J., Seneca, S., Tulalamba, W., Wang, H., Vermeesch, J.R., Chai, Y.C., Veld, P.I., Furling, D., Tadesco, F.S., Joung, J.K., Chuah, M., Vandendriessche, T. (2017). CRISPR/Cas9-Mediated Editing of Trinucleotide Repeat Expansion in Myotonic Dystrophy. In: Molecular Therapy: vol. 25 (5), (85-85). Presented at the 20th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington: DC, 10 May 2017-13 May 2017.

Brison, N., Van Den Bogaert, K., Dehaspe, L., Van Den Oever, J.M E., Janssens, K., Blaumeiser, B., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., de Ravel de l'Argentière, T., Legius, E., Devriendt, K., Vermeesch, J. (2017). Abstract of article: Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies. In: Obstetrical & Gynecological Survey: vol. 72 (8), (469-470). doi: 10.1097/01.ogx.0000521918.86380.15 Dewaele, B., Smits, S., Dehaspe, L., Ding, J., Delforge, M., Van Houdt, J., Brison, N., Lemmens, H., Michaux, L., Vermeesch, J., Vandenberghe, P. (2017). Low-pass sequencing of plasma cell DNA and of ccfDNA for the detection of copy number aberrations and early response monitoring in multiple myeloma. In: Abstract book, (Abstract No. PS-168). Presented at the 16th International Myeloma Workshop, New Delhi, India, 01 Mar 2017-04 Mar 2017. Fieremans, N., Holvoet, M., Van Goethem, G., Devriendt, K., Rosello, M., Mayo, S., Martinez, F., Jhangiani, S., Gibbs, R., Lupski, J., Vermeesch, J., Marynen, P., Froyen, G., Van Esch, H. (2016). Identification of Intellectual Disability Genes in Female Patients with A Skewed X Inactivation Pattern. In: Abstract book, (Abstract No. Poster abstract 77), (319-319). Presented at the 17th Manchester Dysmorphology Conference, Manchester, UK, 07 Nov 2016-10 Nov 2016. Zamani Esteki, M., Destouni, A., Catteeuw, M., Tsuiko, O., Dimitriadou, E., Smits, K., Kurg, A., Salumets, A., Van Soom, A., Voet, T., Vermeesch, J. (2016). Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy. In: Online abstracts, (Abstract No. 3383T), (1988-1988). Presented at the American Society of Human Genetics 66th Annual Meeting, Vancouver, Canada, 18 Oct 2016-22 Oct 2016. Ardeshirdavani, A., Souche, E., Dehaspe, L., Van Houdt, J., Vermeesch, J., Moreau, Y. (2016). NGS-Logistics: federated analysis of NGS sequence variants across multiple locations. In: Abstracts. Presented at the ECCB 2016 - 15th European Conference on Computational Biology, The Hague, the Netherlands, 03 Sep 2016-07 Sep 2016. Muys, J., Blaumeiser, B., Janssens, K., Bandelier, C., Gatot, J., Van den Boogaert, A., Vermeesch, J., Rombout, S., Menten, B., Pichon, B., Keymolen, K., Van den Bogaert, K., Janssens, S., Caberg, J., Desir, J., Sznajer, Y., Destree, A. (2016). The Belgian approach to meet the challenge in interpereting prenatal microarray results. In: Ultrasound in Obstetrics & Gynecology: vol. 48, (Abstract No. OC06.04), (11-11). Presented at the 26th World Congress on Ultrasound in Obstetrics and Gynecology, Rome, Italy, 24 Sep 2016-28 Sep 2016.

Dimitriadou, E., Melotte, C., Debrock, S., Devriendt, K., de Ravel de l'Argentière, T., Legius, E., D'Hooghe, T., Vermeesch, J. (2016). Genome-wide haplotyping of preimplantation embryos in the clinic: principles guiding embryo selection in Leuven. In: Human Reproduction: vol. 31, (Abstract No. P-648). Presented at the ESHRE 2016, Helsinki, Finland, 03 Jul 2016-06 Jul 2016. Demaerel, W., Hestand, M., Vergaelen, E., Swillen, A., Vermeesch, J. (2016). An inversion polymorphism on chromosome 22q11.2 predisposes for 22q11 deletions. In: Abstract book, (Abstract No. 84), (71-71). Presented at the 10th Biennial International 22q11.2 Conference, Sirmione, Italy, 20 Jul 2016-22 Jul 2016. Hestand, M., Nowakowska, B., Vergaelen, E., Van Houdt, J., Dehaspe, L., Suhl, J.A., Del-Favero, J., Mortier, G., Zackai, E., Swillen, A., Devriendt, K., Gur, R.E., McDonald-McGinn, D., Warren, S.T., Emanuel, B.S., Vermeesch, J. (2016). Sequence based evaluation of the remaining allele in 22q11.2 deletion patients. In: Abstract book, (Abstract No. 85), (72-72). Presented at the 10th Biennial International 22q11.2 Conference, Sirmione, Italy, 20 Jul 2016-22 Jul 2016. Louw, J., Corveleyn, A., Breckpot, J., Cosemans, N., Masset, H., Vermeesch, J., Gewillig, M., Peeters, H., Devriendt, K. (2016). Exome sequencing and Linkage Analysis as Tools in solving Syndromic Cardiopathies in Small Families. In: Abstract book, (Abstract No. P1-26). Presented at the 20th Annual Meeting of the Association for the European Paediatric and Congenital Cardiology, Rome, Italy, 01 Jun 2016-04 Jun 2016. Van den Bogaert, K., Dimitriadou, E., Melotte, C., Debrock, S., Devriendt, K., de Ravel de l'Argentière, T., D'Hooghe, R., Vermeesch, J. (2016). Genome-wide haplotyping of preimplantation embryos in the clinic: principles guiding embryo selection in Leuven. In: online abstracts, (Abstract No. C01.1). Presented at the European Human Genetics Conference 2016, Barcelona, Spain, 21 May 2016-24 May 2016. Kammoun, M., Brady, P., Van Esch, H., Deprest, J., Devriendt, K., Vermeesch, J. (2016). Identification of Congenital Diaphragmatic Hernia genes by Whole Exome Sequencing. In: online abstracts, (Abstract No. P11.038). Presented at the European Human Genetics Conference 2016, Barcelona, Spain, 21 May 2016-24 May 2016. Cristofoli, F., De Keersmaecker, B., Van Esch, H., Vermeesch, J. (2016). STIL. Compound heterozygous mutations detected prenatally cause of microcephaly, brain abnormalities and embryonic lethality. In: online abstracts. Presented at the European Human Genetics Conference 2016, Barcelona, Spain, 21 May 2016-24 May 2016. Melotte, C., Dimitriadou, E., Debrock, S., Devriendt, K., de Ravel de l'Argentière, T., Legius, E., D'Hooghe, T., Vermeesch, J. (2016). Genome-wide haplotyping of preimplantation embryos in the clinic: principles guiding embryo selection in Leuven. In: Abstract book. Presented at the 15th International Conference on Preimplantation Genetic Diagnosis, Bologna, Italy, 08 May 2016-11 May 2016. Cosemans, N., Brison, N., Claes, P., Noens, I., Vermeesch, J., Devriendt, K., Peeters, H. (2016). In silico validation of small CNV’s from a dense SNP array. In: online abstracts, (Abstract No. P14.095). Presented at the European Human Genetics Conference 2016, Barcelona, Spain, 21 May 2016-24 May 2016. Vermeesch, J. (2016). Potential relevance of segmental aneuploidies in PGD. In: Abstract book. Presented at the 15th International Conference on Preimplantation Genetic Diagnosis, Bologna, Italy, 08 May 2016-11 May 2016. Ardui, S., Race, V., Matthijs, G., Vermeesch, J. (2016). Detection of AGG interruptions in FMR1 premutation females by single-molecule sequencing. In: online abstracts, (Abstract No. C07.6). Presented at the European Human Genetics Conference 2016, Barcelona, Spain, 21 May 2016-24 May 2016. Destouni, A., Zamani Esteki, M., Catteeuw, M., Tsuiko, O., Dimitriadou, E., Smits, K., Kurg, A., Salumets, A., Van Soom, A., Voet, T., Vermeesch, J. (2016). Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage stage chimaerism and mixoploidy. In: online abstracts, (Abstract No. C01.4). Presented at the European Human Genetics Conference 2016, Barcelona, Spain, 21 May 2016-24 May 2016. Masset, H., Hestand, M., Van Esch, H., Kleinfinger, P., Plaisancie, J., Afenjar, A., Molignier, R., Sluth-Bolard, C., Sanlaville, , Vermeesch, J. (2016). A distinct class of chromoanagenesis events characterized by focal copy number gains. In: online abstracts, (Abstract No. C03.3). Presented at the European Human Genetics Conference 2016, Barcelona, Spain, 21 May 2016-24 May 2016. Brison, N., Van den Bogaert, K., Van den Oever, J., Dehaspe, L., Janssens, K., Blameiser, B.E., Peeters, H., Van Esch, H., Van Buggenhout, G., Vogels, A., de Ravel de l'Argentière, T., Legius, E., Devriendt, K., Vermeesch, J. (2016). Maternal incidental findings during non-invasive prenatal testing for fetal aneuploidies. In: online abstracts, (Abstract No. C13.3). Presented at the European Human Genetics Conference 2016, Barcelona, Spain, 21 May 2016-24 May 2016. Souche, E., Race, V., Corveleyn, A., Dehaspe, L., Vermeesch, J., Van Houdt, J., Matthijs, G. (2016). Evaluation of a custom mendeliome for diagnostic genetic testing. In: online abstracts, (Abstract No. P14.068). Presented at the European Human Genetics Conference 2016, Barcelona, Spain, 21 May 2016-24 May 2016. Isrie, M., Breuss, M., Tian, G., Hansen, A., Cristofoli, F., Morandell, J., Porta Dapena, E., Leonard, K., Tinsa, F., Moortgat, S., Ulucan, H., Koparir, E., Karaca, E., Katsanis, N., Marton, V., Vermeesch, J., Davis, E., Cowan, N., Keys, D., Van Esch, H. (2016). Mutations in either TUBB or MAPRE2 cause circumferential skin creases Kunze type. In: online abstracts, (Abstract No. C21.3). Presented at the European Human Genetics Conference 2016, Barcelona, Spain, 21 May 2016-24 May 2016. Cosemans, N., Brison, N., Noens, I., Steyaert, J., Claes, P., Vermeesch, J., Devriendt, K., Peeters, H. (2016). The genetics of ASD: insights from the Leuven autism study. Presented at the Autism Research Workshop, Ghent, Belgium, 10 Mar 2016-12 Mar 2016. Sznajer, Y., Bandelier, C., Ravoet, M., Vermeesch, J., Janssens, K., Van den Bogaert, K., Désir, J., Dheedene, A., Muys, J., Staessen, C., Vilain, C., Keymomen, K., Gatot, J-S., Menten, B., Grisard, B., Rombout, S., Vanakker, O., Blaumeiser, B., De Rademaeker, M., Smits, G., De Leener, A., Pichon, B., Destree, A., de Ravel de l'Argentière, T., Gaillez, S., Caberg, J., Revencu, N., Janssens, S., Bulk, S., Melotte, C., Devriendt, K. (2016). Evidence from adults with intellectual disability to cnv in prenatal period: how to build penetrance validation and appropriate genetic counselling? an example with 10q11.22 duplication. In: Genetic Counseling: vol. 27 (1), (126-127). Presented at the 26th European Meeting on Dysmorphology, Strasbourg, France, 09 Sep 2015-11 Sep 2015.

Melotte, C., Dimitriadou, E., Debrock, S., Devriendt, K., de Ravel de l'Argentière, T., Legius, E., D'Hooghe, T., Vermeesch, J. (2016). Genome-wide haplotyping of preimplantation embryos in the clinic: principles guiding embryo selection in Leuven. In: Abstract book, (Abstract No. O12), (35-35). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016. Kammoun, M., Brady, P., Van Esch, H., Deprest, J., Devriendt, K., Vermeesch, J. (2016). Identification of Congenital Diaphragmatic Hernia genes by Whole Exome Sequencing. In: Abstract book, (121-121). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016. Masset, H., Fernandez Gallardo, E., Rodriguez Iglesias, B., Dimitriadou, E., Melotte, C., Zamani Esteki, M., Debrock, S., Peeraer, K., Voet, T., Vermeesch, J. (2016). Combining time-lapse imaging and genome-wide haplotyping reveals novel mechanisms underlying chimersim, mixoploidy and aneuploidy formation in mono- and tripronuclear human preimplantation embryos. In: Abstract book, (Abstract No. P92), (161-161). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016. Louw, J., Corveleyn, A., Breckpot, J., Cosemans, N., Masset, H., Gewillig, M., Vermeesch, J., Peeters, H., Devriendt, K. (2016). Exome sequencing and Linkage Analysis as Tools in solving Syndromic Cardiopathies in Small Families. In: Abstract book, (Abstract No. P49), (110-110). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016. Ardehirdavani, A., Souche, E., Dehaspe, L., Van Houdt, J., Vermeesch, J., Moreau, Y. (2016). 3NGS-Logistics/ federated analysis of NGS sequence variants across multiple locations. In: Abstract book, (118-118). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016. Isrie, M., Cristofoli, F., Breuss, M., Tian, G., Hansen, A., Morandelli, J., Zupchinsky, Z., Sifrim, A., Rodriguez Rodriguez, C., Dapena, E., Doonanco, K., Leonard, N., Tinsa, F., Morotgat, S., Ulucan, H., Koparir, E., Karaca, E., Katsanis, N., Marton, V., Vermeesch, J., Davis, E., Cowan, N., Keays, D., Van Esch, H. (2016). Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. In: Abstract book, (Abstract No. O14), (37-37). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016.

Souche, E., Ardeshirdavani, A., Moreau, Y., Matthijs, G., Vermeesch, J. (2016). Towards a Belgian reference set. In: Abstract book, (Abstract No. P77), (142-143). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016. Ardui, S., Race, V., Matthijs, G., Vermeesch, J. (2016). Detection of AGG interruptions in FMR1 premutation females by Single-molecule sequencing. In: Abstract book, (Abstract No. P101), (171-171). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016. Brison, N., Van den Bogaert, K., Van den Oever, J., Dehaspe, L., Janssens, K., Blaumeiser, B., Peeters, H., Van Esch, H., de Ravel de l'Argentière, T., Legius, E., Devriendt, K., Vermeesch, J. (2016). Maternal incidental findings during non-invasive prenatal testing for fetal aneuploidies. In: Abstract book, (Abstract No. O10), (32-32). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016.

Dimitriadou, E., Zamani Esteki, M., Voet, T., Vermeesch, J. (2016). Segmental chromosomal imbalances arise at high frequency in human fibroblasts. In: Abstract book, (Abstract No. P27), (87-87). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016. Hestand, M., Van Houdt, J., Mensah, M., Masset, H., Larmuseau, M., Sanlaville, D., Robinson, P., Vermeesch, J. (2016). Single Molecule Variant Detection: From Heteroduplexes in a Single DNA Molecule to Whole Chromosome Rearrangements. In: Abstract book, (Abstract No. O4), (26-26). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016.

Zamani Esteki, M., Destouni, A., Catteeuw, M., Tsuiko, O., Dimitriadou, E., Smits, K., Kurgs, A., Salumets, A., Van Soom, A., Voet, T., Vermeesch, J. (2016). Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage stage chimaerism and mixoploidy. In: Abstract book, (Abstract No. P82), (149-149). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016.

Zablotskaya, A., Peeters, G., Meert, W., Van Esch, H., Verstrepen, K., Froyen, G., Vermeesch, J. (2016). Large-scale single-molecule sequencing of tandem repeats on the human X chromosome. In: Abstract book, (Abstract No. P96), (166-166). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016.

Cristofoli, F., De Keersmaecker, B., Van Esch, H., Vermeesch, J. (2016). STIL compound heterozygous mutations detected prenatally cause of microcephaly, brain abnormalities and embrionic lethality? In: Abstract book, (Abstract No. P97), (167-167). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016.

Demaerel, W., Vermeesch, J. (2016). Long Read Sequencing of Single Microdisscted Chromosomes enables targeted genotyping. In: Abstract book, (Abstract No. P100), (170-170). Presented at the BeSHG & NVHVG First Joint Meeting “Genetics & Society”, Leuven, Belgium, 04 Feb 2016-05 Feb 2016. Jaruga, A.H., Hordyjewska, E.Z., Debeer, P., Vermeesch, J., Tylzanowski, P. (2016). Genetic basis of Gollop-Wolfgang syndrome. In: International Journal of Experimental Pathology: vol. 97 (5). Presented at the Joint Autumn Meeting of the British-Society-for-Matrix-Biology (BSMB) and Bone-Research-Society (BRS), Edinburgh: SCOTLAND, 01 Sep 2015-03 Sep 2015.

Cosemans, N., Brison, N., Noens, I., Claes, P., Vermeesch, J., Devriendt, K., Peeters, H. (2015). Analysis of autosomal CNV profiles in patients and siblings in autism families: The contribution of variants of unknown significance. In: Abstract book, (24-25). Presented at the International Workshop on ‘Fragile X and other Early-Onset Cognitive Disorders', Illkirch, Strasbourg, France, 27 Sep 2015-30 Sep 2015.

Dimitriadou, E., Zamani Esteki, M., Van der Aa, N., Voet, T., Vermeesch, J. (2015). High incidence of mosaic chromosomal aneuploidies in human cell lines: a quantification of the frequency of the phenomenon. In: Online abstracts, (Abstract No. C.13.5). Presented at the European Human Genetics Conference 2015, Glasgow, Scotland, 06 Jun 2015-09 Jun 2015.

Zablotskaya, A., Peeters, G., Meert, W., Verstrepen, K., Froyen, G., Vermeesch, J. (2015). Large-scale single-molecule sequencing of tandem repeats on the human X chromosome. In: Online abstracts, (Abstract No. C02.3). Presented at the European Human Genetics Conference 2015, Glasgow, Scotland, 06 Jun 2015-09 Jun 2015. Brison, N., Van den Bogaert, K., Brady, P., Dehaspe, L., Wlodarska, I., Amant, F., Vandenberghe, P., de Ravel de l'Argentière, T., Peeters, H., Van Esch, H., Devriendt, K., Legius, E., Vermeesch, J. (2015). Incidental findings of genome wide non-invasive fetal aneuploidy detection (NIPT); presymptomatic identification of maternal cancers. In: Online abstracts, (Abstract No. C01.5). Presented at the European Human Genetics Conference 2015, Glasgow, Scotland, 06 Jun 2015-09 Jun 2015.

Cristofoli, F., Davis, E., Devriendt, K., Peeters, H., Van Esch, H., Vermeesch, J. (2015). From whole exome sequencing to functional studies in syndromic microcephaly: using zebrafish for variant testing. In: Online abstracts, (Abstract No. C16.6). Presented at the European Human Genetics Conference 2015, Glasgow, Scotland, 06 Jun 2015-07 Jun 2015.

Muys, J., Janssens, K., Vanakker, O., Vilain, C., Smits, G., Bandelier, C., Bulk, S., Caberg, J., De Leener, A., De Rademaeker, M., de Ravel de l'Argentière, T., Desir, J., Destree, A., Dheedene, A., Gaillez, S., Grisart, B., Hellin, A., Janssens, S., Keymolen, K., Menten, B., Pichon, B., Ravoet, M., Revencu, N., Rombaut, S., Staessens, C., Van Den Bogaert, A., Van Den Bogaert, K., Vermeesch, J., Sznajer, Y., Blaumeiser, B., Yacquemyn, Y., Devriendt, K. (2015). The Belgian MicroArray Prenatal (BEMAPRE) database. In: Online abstracts, (Abstract No. PM0&;70). Presented at the European Human Genetics Conference 2015, Glasgow, Scotland, 06 Jun 2015-09 Jun 2015.

Tsuiko, O., Zamani Esteki, M., Destouni, A., Catteeuw, M., Smits, K., Dimitriadou, E., Nömm, M., Jaakma, Ü., Kurg, A., Salumets, A., Van Soom, A., Voet, T., Vermeesch, J. (2015). The cleavage-stage bovine embryo is a valuable model to study chromosome instability in early mammalian embryogenesis. In: Online absracs, (Abstract No. PS01.13). Presented at the European Human Genetics Conference 2015, Glasgow, Scotland, 06 Jun 2015-09 Jun 2015.

Peeters, H., Cosemans, N., Brison, N., Noens, I., Claes, P., Vermeesch, J., Devriendt, K. (2015). Analyses of variants of unknown significance in families with non-syndromic autism spectrum disorders and normal intelligence. In: Proceedings. Presented at the Genomics disorders meeting: Genomics of Rare Diseases – Beyond the Exome, Cambridge, UK, 29 Apr 2015-01 May 2015.

Ardui, S., Hestand, M., Vermeesch, J. (2015). Single Molecule Sequencing of the FMR1 CGG Repeat. In: Abstract book, (34-35). Presented at the Genetics Retreat 2015, Kerkrade, The Netherlands, 22 Apr 2015-24 Apr 2015. Fassbender, A., Debiec-Rychter, M., Van Bree, R., Vermeesch, J.R., D'Hooghe, T., Lebovic, D. (2015). Is There Evidence for Fetal Microchimerism in Women With Endometriosis? In: REPRODUCTIVE SCIENCES: vol. 22, (116A-117A). (URL) Zamani Esteki, M., Dimitriadou, E., Mateiu, L., Melotte, C., Van der Aa, N., Kumar, P., Das, R., Theunis, K., Cheng, J., Legius, E., Moreau, Y., Debrock, S., D'Hooghe, T., Verdyck, , ¨De Rycke, M., Sermon, K., Vermeesch, J., Voet, T. (2015). Concurrent whole-genome haplotyping and copy number profiling of single cells. In: Abstract book, (Abstract No. P53), (98-98). Presented at the 15th Annual BeSHG Meeting Behaviour: Is it genetically determined?, jCharleroii, Belgium, 06 Mar 2015-06 Mar 2015.

Van der Aa, N., Fernandez Gallardo, E., Szanto, C., Zamani Esteki, M., Kumar, P., Dimitriadou, E., Theunis, K., Debrock, S., De Neubourg, D., D'Hooghe, T., Vermeesch, J., Voet, T. (2015). Single-cell genome sequencing to characterize chromosome instability in human cleavage stage embryos. In: Abstract book, (Abstract No. O11), (34-34). Presented at the 15th Annual BeSHG Meeting Behaviour: Is it genetically determined?, Charleroi, Belgium, 06 Mar 2015-06 Mar 2015.

Cosemans, N., Brison, N., Noens, I., Claes, P., Vermeesch, J., Devriendt, K., Peeters, H. (2015). Analysis of autosomal CNV profiles in patients and siblings in autism families. In: Abstract book, (Abstract No. P48), (92-92). Presented at the Annual BeSHG Meeting Behaviour: Is it genetically determined?, Charleroi, Belgium, 06 Mar 2015-06 Mar 2015. Open Access

Ardeshirdavani, A., Souche, E., Dehaspe, L., Van Houdt, J., Vermeesch, J., Moreau, Y. (2015). NGS-Logistics: Federated analysis of NG sequence variants across multiple locations. In: Abstract book, (Abstract No. O13), (36-36). Presented at the 15th Annual BeSHG Meeting Behaviour: Is it genetically determined?, Charleroi, Belgium, 06 Mar 2015-06 Mar 2015.

Masset, H., Dehaspe, L., Hestand, M., Vermeesch, J. (2015). Unravelling the mechanistic origin of chromoanasynthesis. In: Abstract book, (Abstract No. O9), (32-32). Presented at the 15th Annual BeSHG Meeting Behaviour: Is it genetically determined?, Charleroi, Belgium, 06 Mar 2015-06 Mar 2015. Zablotskaya, A., Peeters, G., Meert, W., Verstrepen, K., Froyen, G., Vermeesch, J. (2015). Large-scale single-molecule sequencing of tandem repeats on the human X chromosome. In: Abstract book, (Abstract No. O15), (39-39). Presented at the 15th Annual BeSHG Meeting Behaviour: Is it genetically determined?, Charleroi, Belgium, 06 Mar 2015-06 Mar 2015.

Cristofoli, F., Davis, E., Devriendt, K., Peeters, H., Van Esch, H., Vermeesch, J. (2015). From Whole Exome Sequencing to Functional Studies in Syndromic Microcephaly; Using Zebrafish for Variant Testing. In: Abstract book, (Abstract No. O1), (24-24). Presented at the 15th Annual BeSHG Meeting Behaviour: Is it genetically determined?, Charleroi, Belgium, 06 Mar 2015-06 Mar 2015.

Brison, N., Brady, P., Van den Bogaert, K., de Ravel de l'Argentière, T., Peeters, H., Van Esch, H., Devriendt, K., Legius, E., Vermeesch, J. (2015). Clinical implementations of NIPT – results from 4000 pregnancies. In: Abstract book, (Abstract No. O16), (40-40). Presented at the 15th Annual BeSHG Meeting Behaviour: Is it genetically determined?, Charleroi, Belgium, 06 Mar 2015-06 Mar 2015. Open Access

Demaerel, W., Thoelen, R., Vermeesch, J. (2015). Absence of Nested Inversion Polymorphism at 22q11.2. In: Abstract book, (Abstract No. P42), (89-89). Presented at the 15th Annual BeSHG Meeting Behaviour: Is it genetically determined?, Charleroi, Belgium, 06 Mar 2015-06 Mar 2015. Ardui, S., Vermeesch, J. (2015). Single Molecule Real-Time Sequencing of the CGG repeat in the FMR1 gene. In: Abstract book, (Abstract No. P50), (95-95). Presented at the 15th Annual BeSHG Meeting Behaviour: Is it genetically determined?, Charleroi, Belgium, 06 Mar 2015-06 Mar 2015. Destouni, A., Zamani Esteki, M., Catteeuw, M., Smits, K., Tsuiko, O., Dimitriadou, E., Voet, T., VanSoom, A., Vermeesch, J. (2015). The cleavage stage bovine embryo is a valuable model for chromosome instability in early mammalian embryogenesis. In: Absract book, (Abstract No. P51), (96-96). Presented at the 15th Annual BeSHG Meeting Behaviour: Is it genetically determined?, Charleroi, Belgium, 06 Mar 2015-06 Mar 2015.

Hestand, M., Van Houdt, J., Cristofoli, F., Vermeesch, J. (2015). Polymerase specific error rates identified by single molecule sequencing. In: Abstract book, (Abstract No. P31), (73-73). Presented at the 15th Annual BeSHG Meeting Behaviour: Is it genetically determined?, Charleroi, Belgium, 06 Mar 2015-06 Mar 2015. Dimitriadou, E., Zamani Esteki, M., Van der Aa, N., Voet, T., Vermeesch, J. (2015). High incidence of mosaic chromosomal aneuploidies in human cell lines: a quantification of the frequency of the phenomenon. In: Abstract book, (Abstract No. P55), (100-100). Presented at the 15th Annual BeSHG Meeting Behaviour: Is it genetically determined?, Charleroi, Belgium, 06 Mar 2015-06 Mar 2015.

Ardeshirdavani, A., Souche, E., Dehaspe, L., Van Houdt, J., Vermeesch, J., Moreau, Y. (2015). NGS-Logistics: data infrastructure for efficient analysis of NGS sequence variants across multiple centers. In: BMC Bioinformatics: vol. 16. Presented at the 10th Student Council Symposium of the International-Society-for-Computational-Biology (ISCB) held in conjunction with the Intelligent Systems for Molecular Biology (ISMB), Boston: MA, 11 Jul 2014-11 Jul 2014.

Van den Bogaert, K., Brison, N., Brady, P., Dehaspe, L., Wlodarska, I., de Ravel de l'Argentière, T., Peeters, H., Van Esch, H., Devriendt, K., Legius, E., Vermeesch, J. (2015). Incidental findings of genome wide non-invasive fetal aneuploidy detection: presymptomatic identification of maternal cancers. In: Chromosome Research: vol. 23, (Abstract No. 3.P24). Presented at the 10th European Cytogenetics Conference ECA 2015, Glasgow, UK, 04 Jul 2015-07 Jul 2015.

Melotte, C., Dimitriadou, E., Zamani Esteki, M., Debrock, S., D'Hooghe, T., de Ravel de l'Argentière, T., Voet, T., Vermeesch, J. (2015). Preimplantation Genetic Diagnosis: one assay that fits al. In: Chromosome Research: vol. 23, (Abstract No. 3.P20). Presented at the 10th European Cytogenetics Conference ECA 2015, Strasbourg, France, 04 Jul 2015-07 Jul 2015.

Vermeesch, J. (2015). Retrotransposable elements and unbalanced translocations. In: Chromosome Research: vol. 23, (Abstract No. L16). Presented at the 10th European Cytogenetics Conference ECA 2015, Strasbourg, France, 04 Jul 2015-07 Jul 2015. Wlodarska, I., Amant, F., Verheecke, M., Dehaspe, L., Dierickx, D., Vandecaveye, V., Tousseyn, T., Moerman, P., Vanderstichele, A., Brison, N., vandenbogaert, K., Brady, P., Berteloot, P., Putzeys, K., Danneels, L., Vandenberghe, P., Legius, E., Vermeesch, J. (2015). Presymptomatic identification of cancer/lymphomaduring non-invasive prenatal diagnosis. In: Hematological Oncology: vol. 33, (Abstract No. Publication 316), (254-254). Presented at the 13th International Conference on Malignant Lymphoma, Lugano, Switzerland,, 17 Jun 2015-20 Jun 2015.

Breckpot, J., Lumaka, A., Vermeesch, J., Devriendt, K. (2015). Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the hallux associated with cerebral cyst: a new entity? In: Genetic Counseling. Presented at the 25th European Meeting on Dysmorphology, Strasbourg, France, 10 Sep 2014-12 Sep 2014. Muys, J., Janssens, K., Vanakker, O., Vilain, C., Smits, G., Bandelier, C., Bulk, S., Caberg, J., De Leener, A., De Rademaeker, M., de Ravel de l'Argentière, T., Desir, J., Destree, A., Dheedene, A., Gaillez, S., Grisar, B., Hellin, A., Janssens, S., Keymolen, K., Menten, B., Pichon, B., Ravoet, M., Rrevency, N., Rombout, S., Staessen, C., Van den Bogaert, A., Van den Bogaert, K., Vermeesch, J., Sznajer, Y., Blaumeiser, B., Jacquemyn, Y., Devriendt, K. (2015). Belgian MicroArray Prenatal (BEMAPRE) database. In: Prenatal Diagnosis: vol. 35, (Abstract No. P1-11), (31-32). Presented at the 19th International Conference on Prenatal Diagnosis and Therapy, Washington, USA, 12 Jul 2015-05 Jul 2015. Zamani Esteki, M., Dimitriadou, E., Mateiu, L., Melotte, C., Van der Aa, N., Kumar, P., Das, R., Theunis, K., Cheng, J., Legius, E., Moreau, Y., Debrock, S., D'Hooghe, T., Verdyck, P., De Rycke, M., Sermon, K., Vermeesch, J., Voet, T. (2014). Whole-genome single-cell haplotyping, a generic method for preimplantation genetic diagnosis. In: ASHG Meeting Abstracts, (Abstract No. 327), (114-114). Presented at the American Society of Human Genetics 64th Annual Meeting, San Diego, CA, USA, 18 Oct 2014-22 Oct 2014.

Campbell, I., Yuan, B., Robberecht, C., Pfundt, R., Szafranski, P., McEntagart, M., Nagamani, S., Erez, A., Bartnik, M., Wisniowiecka-Kowalnik, B., Plunketta, K., Pursley, A., Kang, S., Bi, W., Lalani, S., Bacino, C., Vast, M., Marks, K., Patton, M., Olofsson, P., Patel, A., Veltman, J., Cheung, S., Shaw, C., Vissers, L., Vermeesch, J., Lupski, J., Stankiewicz, P. (2014). Parental somatic mosaicism contributes an under-recognized source of potentially recurrent new mutations. In: ASHG Meeting Abstracts, (Abstract No. 280). Presented at the American Society of Human Genetics 64th Annual Meeting, San Diego, CA, USA, 18 Oct 2014-22 Oct 2014.

Van Buggenhout, G., Guitart, M., Bass, N., Vogels, A., Novell, R., McQuillin, A., Weyts, E., Cayenberghs, R., Vinas, M., Wolfe, K., Vermeesch, J., Esteba-Castillo, S., Strydom, A. (2014). Copy Number Variations in a Large Cohort of Adults with a Dual Diagnosis of Intellectual Disability and Neuropsychiatric Disorders. In: Online Abstract book. Presented at the XXIInd World Congress on Psychiatric Genetics ‘Pathways to Therapy and Prevention’, Copenhagen, Denmark, 12 Oct 2014-16 Oct 2014.

Zamani Esteki, M., Dimitriadou, E., Mateiu, L., Melotte, C., Van der Aa, N., Kumar, P., Das, R., Cheng, J., Legius, E., Moreau, Y., Debrock, S., D'Hooghe, T., Verdyck, P., De Rycke, M., Sermon, K., Vermeesch, J., Voet, T. (2014). Whole-genome single-cell haplotyping, a generic method for preimplantation genetic diagnosis. In: European Journal of Human Genetics: vol. 22, (Abstract No. C01.4), (19-19). Presented at the The European Human Genetics Conference 2014, Milan, Italy, 31 May 2014-03 Jun 2014.

Brison, N., Bayindir, B., Brady, P., Dehaspe, L., Ardui, S., Van Houdt, J., Van Esch, H., Legius, E., de Ravel de l'Argentière, T., Devriendt, K., Vermeesch, J. (2014). Clinical implementation of noninvasive prenatal aneuploidy detection. In: European Journal of Human Genetics: vol. 22, (Abstract No. C01.1), (19-19). Presented at the The European Human Genetics Conference 2014, Milan, Italy, 31 May 2014-03 Jun 2014.

Hestand, M., Nowakowska, B., Van Houdt, J., Dehaspe, L., Swillen, A., Devriendt, K., McDonald-McGinn, D., Emanuel, B., Warren, S., Vermeesch, J. (2014). A catalog of hemizygous variation in 127 22q11 deletion patients. In: European Journal of Human Genetics: vol. 22, (Abstract No. P13.03-S), (267-267). Presented at the The European Human Genetics Conference 2014, Milan, Italy, 31 May 2014-03 Jun 2014.

Bazrgar, M., Gourab, H., Karimpour-Fard, A., Borjian, P., Zamani Esteki, M., Voet, T., Davani, N., Anisi, K., Banai, M., Kuroshli, Z., Movaghar, B., Borna, S., Valojerdi, M., Vermeesch, J. (2014). The Role of Early Development in Intra-individual Genetic Variation of Normal Human Fetuses. In: European Journal of Human Genetics: vol. 22, (386-387). Presented at the The European Human Genetics Conference 2014, Milan, Italy, 31 May 2014-03 Jun 2014.

Dimitriadou, E., Van der Aa, N., Cheng, J., Voet, T., Vermeesch, J. (2014). Single cell segmental aneuploidy detection is compromised by S phase. In: European Journal of Human Genetics: vol. 22, (Abstract No. P01.063-S), (65-65). Presented at the The European Human Genetics Conference 2014, Milan, Italy, 31 May 2014-03 Jun 2014. Bayindir, B., Brady, P., Brison, N., Dehaspe, L., Ardui, S., Van Houdt, J., Van Esch, H., Legius, E., de Ravel de l'Argentière, T., Devriendt, K., Vermeesch, J. (2014). Non-invasive prenatal detection of a mosaic trisomy 16. In: European Journal of Human Genetics: vol. 22, (Abstract No. P01.063-S), (62-62). Presented at the The European Human Genetics Conference 2014, Milan, Italy, 31 May 2014-03 Jun 2014.

Mensah, M., Hestand, M., Larmuseau, M., Isrie, M., Vanderheyden, N., Declercq, M., Souche, E., Van Houdt, J., Stoeva, R., Van Esch, H., Devriendt, K., Voet, T., Decorte, R., Robinson, P., Vermeesch, J. (2014). Pseudoautosomal region 1 length polymorphism in the human population. In: European Journal of Human Genetics: vol. 22, (Abstract No. C20.4), (46-46). Presented at the The European Human Genetics Conference 2014, Milan, Italy, 31 May 2014-03 Jun 2014.

Jia, Y., Louw, J., Breckpot, J., Callewaert, B., Snajer, Y., Gewillig, M., Souche, E., Dehaspe, L., Vermeesch, J., Devriendt, K., Corveleyn, A. (2014). Challenges in the interpretation of variants identified in autosomal dominant familial nonsyndromic congenital heart defects by targeted next-generation sequencing. In: European Journal of Human Genetics: vol. 22, (Abstract No. P14.20-M), (280-280). Presented at the The European Human Genetics Conference 2014, Milan, Italy, 31 May 2014-03 Jun 2014.

Ardeshirdavani, A., Souche, E., Dehaspe, L., Van Houdt, J., Vermeesch, J., Moreau, Y. (2014). Federated analysis of NGS sequence variants across multiple locations. Presented at the BeMGI annual meeting 2014 “Genomic Advances in Disease Biology and Diagnostics”, Liège, Belgium, 24 Jan 2014-24 Jan 2014. Lumaka, A., Thoelen, R., Brison, N., Peeters, H., Lukusa-Tshilobo, P., Vermeesch, J., Devriendt, K. (2014). Making array CHG technology accessible for Congolese patients using stripped slides. Presented at the BeMGI annual meeting 2014 “Genomic Advances in Disease Biology and Diagnostics”, Liège, Belgium, 24 Apr 2014-24 Apr 2014.

Zablotskaya, A., Duitama, J., Gemayel, R., Jansen, A., Belet, S., Vermeesch, J., Versrepen, K., Froyen, G. (2014). Large-scale analysis of tandem repeat variability in the human genome. Presented at the BeMGI annual meeting 2014 “Genomic Advances in Disease Biology and Diagnostics”, Liège, Belgium, 24 Apr 2014-24 Apr 2014. Hestand, M., Mensah, M., Larmuseau, M., Isrie, M., Vanderheyden, N., Declercq, M., Souche, E., Van Houdt, J., Stoeva, R., Van Esch, H., Devriendt, K., Voet, T., Decorte, R., Robinson, P., Vermeesch, J. (2014). Pseudoautosomal Region 1 Length Polymorphism in the Human Population. Presented at the BeMGI annual meeting 2014 “Genomic Advances in Disease Biology and Diagnostics”, Liège, Belgium, 24 Apr 2014-24 Apr 2014.

Souche, E., Vermeesch, J., Devriendt, K., Van Esch, H., Legius, E., Peeters, H., Matthijs, G., BeMGI Belgian variant database workgroup, (2014). Towards a Belgian variant reference set. Presented at the BeMGI annual meeting 2014 “Genomic Advances in Disease Biology and Diagnostics”, Liège, Belgium, 24 Apr 2014-24 Apr 2014. Vermeesch, J., Brison, N., Barayindir, B., Brady, P., Dehaspe, L., Ardui, S., Van Houdt, J., Van Esch, H., Legius, E., de Ravel de l'Argentière, T., Devriendt, K., Van Houdt, J. (2014). Non-invasive prenatal aneuploidy detection. (Abstract No. Talk n° 3). Presented at the BeMGI 2014 Annual Meeting “Genomic Advances in Disease Biology and Diagnostics”, Liège, Belgium, 24 Apr 2014-24 Apr 2014.

Lukusa-Tshilobo, P., Brady, P., De Catte, L., Deprest, J., Moerman, P., Vermeesch, J., Devriendt, K. (2014). A new cause of syndromic congenital diaphragmatic hernia identified by exome sequencing. In: Genetic Counseling: vol. 25 (1), (116-117). Presented at the 24th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 05 Sep 2013-06 Sep 2013.

Brady, P., Van Esch, H., Deprest, J., Moerman, P., Vermeesch, J., De Rademaeker, M., Devriendt, K. (2014). Familial syndromic and non-syndromic congenital diaphragmatic hernia: the value of exome sequencing. In: Genetic Counseling: vol. 25 (1), (108-108). Presented at the 24th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 05 Sep 2013-06 Sep 2013.

Sifrim, A., Popovic, D., Tranchevent, L-C., Ardeshirdavani, A., Sakai, R., Konings, P., Vermeesch, J., Aerts, J., De Moor, B., Moreau, Y. (2014). eXtasy: variant prioritization by genomic data fusion. In: Proceedings, (Abstract No. P43). Presented at the Genomic Disorders 2014: The Genomics of Rare Diseases, Cambridge, UK, 05 Mar 2014-07 Mar 2014.

Kohlhase, J., Boudry-Labis, E., Demeer, B., Le Caignec, C., Isidor, B., Mathieu-Dramard, M., Plessis, G., George, A., Taylor, J., Aftimos, S., Wiemer-Kruel, A., Anneren, G., Firth, H., Simonic, I., Vermeesch, J., Thuresson, A., Copin, H., Love, D., Andrieux, D. (2014). A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. In: Genetic Counseling: vol. 25 (1), (93-94). Presented at the 4th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 05 Sep 2013-06 Sep 2013.

O'Driscoll, M., Hart, L., Rauch, A., Carr, A., Vermeesch, J. (2014). LETM1 haploinsufficiency causes mitochondrial defects in Wolf-Hirschhorn syndrome patient cells: implications for dissecting underlying pathomechanisms. In: Proceedings, (Abstract No. S67). Presented at the Genomic Disorders 2014: The Genomics of Rare Diseases, Cambridge, UK, 05 Mar 2014-07 Mar 2014.

Campbell, I., Yuan, B., Robberecht, C., Pfundt, R., Mcentagart, M., Nagamani, S., Erez, A., Bartnik, M., Wisniowiecka-Kowalnik, B., Bocian, E., Plunkett, K., Pursley, A., Kang, S., Bi, S., Lalani, S., Bacino, C., Vast, M., Marks, K., Patton, M., Olofsson, P., Patel, A., Veltman, J., Cheung, S., Shaw, C., Vissers, L., Vermeesch, J., Lupski, P., Stankiewicz, P. (2014). Unrecognized post zygotic mutagenesis transmits potentially recurrent genomic disorders to the next generation. In: Proceedings, (Abstract No. S41). Presented at the Genomic Disorders 2014: The Genomics of Rare Diseases, Cambridge, UK, 05 Mar 2014-07 Mar 2014.

Vermeesch, J., Voet, T. (2014). Single cell genomic array and sequencing enabling improved preimplantation genetic diagnosis. In: Proceedings, (Abstract No. S47). Presented at the Genomic Disorders 2014: The Genomics of Rare Diseases, Cambridge, UK, 05 Mar 2014-07 Mar 2014. Zamani Esteki, M., Dimitriadou, E., Mateiu, L., Melotte, C., Van der Aa, N., Kumar, P., Cheng, J., Legius, E., Moreau, Y., Debrock, S., D'Hooghe, T., Verdyck, P., De Rycke, M., Sermon, K., Vermeesch, J., Voet, T. (2014). Whole-genome single-cell haplotyping, a generic method for preimplantation genetic diagnosis. In: Abstract book, (Abstract No. O5), (28-28). Presented at the 14th Annual BeSHG Meeting “Translational Genetics: from cage over bench to bed”, Antwerp, Belgium, 07 Feb 2014-07 Feb 2014.

Ardeshirdavani, A., Souche, E., Dehaspe, L., Van Houdt, J., Vermeesch, J., Moreau, Y. (2014). NGS logistics: data infrastructure for efficient analysis of NGS sequence variants. In: Abstract book, (Abstract No. P62), (119-119). Presented at the 14th Annual BeSHG Meeting “Translational Genetics: from cage over bench to bed”, Antwerp, Belgium, 07 Feb 2014-07 Feb 2014. Bayindir, B., Brady, P., Brison, N., Dehaspe, L., Ardui, S., Van Houdt, J., Van Esch, H., Legius, E., de Ravel de l'Argentière, T., Devriendt, K., Vermeesch, J. (2014). Clinical implementation of non-invasive prenatal aneuploidy detection. In: Abstract book, (Abstract No. T2), (33-33). Presented at the 14th Annual BeSHG Meeting “Translational Genetics: from cage over bench to bed”, Antwerp, Belgium, 07 Feb 2014-07 Feb 2014. Dimitriadou, E., Van der Aa, N., Cheng, J., Voet, T., Vermeesch, J. (2014). Single cell segmental aneuploidy detection is compromised by S phase. In: Abstract book, (Abstract No. PT9), (48-48). Presented at the 14th Annual BeSHG Meeting “Translational Genetics: from cage over bench to bed”, Antwerp, Belgium, 07 Feb 2014-07 Feb 2014. Jia, Y., Louw, J., Breckpot, J., Callewaert, B., Snajer, Y., Gewillig, M., Souche, E., Dehaspe, L., Vermeesch, J., Devriendt, K., Corveleyn, A. (2014). Mutations in known cardiac genes explain half of autosomal dominant familial nonsyndromic congenital heart defects. In: Abstract book, (Abstract No. P37), (93-93). Presented at the 14th Annual BeSHG Meeting “Translational Genetics: from cage over bench to bed”, Antwerp, Belgium, 07 Feb 2014-07 Feb 2014. Lumaka Zola, A., Thoelen, R., Brison, N., Peeters, H., Lukusa-Tshilobo, P., Vermeesch, J., Devriendt, K. (2014). Making Array CHG technology accessible for Congolese patients using Stripped slides. In: Abstract book, (Abstract No. P38), (94-94). Presented at the 14th Annual BeSHG Meeting “Translational Genetics: from cage over bench to bed”, Antwerp, Belgium, 07 Feb 2014-07 Feb 2014. Hestand, M., Mensah, M.A., Larmuseau, M.H., Isrie, M., Vanderheyden, N., Declercq, M., Souche, E., Van Houdt, J., Stoeva, R., Van Esch, H., Devriendt, K., Voet, T., Decorte, R., Robinson, P., Vermeesch, J. (2014). Pseudoautosomal Region 1 Length Polymorphism in the Human Population. In: Abstract book, (Abstract No. P41), (97-97). Presented at the 14th Annual BeSHG Meeting “Translational Genetics: from cage over bench to bed”, Antwerp, Belgium, 07 Feb 2014-07 Feb 2014. Vandenberghe, P., Wlodarska, I., Tousseyn, T., Dehaspe, L., Dierickx, D., Verheecke, M., Uyttebroeck, A., Bechter, O., Delforge, M., Vandecaveye, V., Brison, N., Verhoef, G., Legius, E., Amant, F., Vermeesch, J. (2014). Non-Invasive Detection of Genomic Imbalances in Hodgkin/Reed-Sternberg Cells in Early and Advanced Stage Hodgkin Lymphoma By Sequencing of Circulating Cell-Free DNA. In: Blood: vol. 124 (21). Presented at the 56th Annual Meeting of the American-Society-of-Hematology, San Francisco: CA, 06 Dec 2014-09 Dec 2014.

Zamani Esteki, M., Dimitriadou, E., Mateiu, L., Melotte, C., Van der Aa, N., Kumar, P., Das, R., Theunis, K., Cheng, J., Legius, E., Moreau, Y., Debrock, S., D'Hooghe, T., Verdyck, P., De Rycke, M., Sermon, K., Vermeesch, J., Voet, T. (2014). Single-cell SNP-array and genome sequence analysis to study individual blastomeres. In: Chromosome Research: vol. 22 (4), (595-595). Presented at the 13th Annual Meeting of the Preimplantation-Genetic-Diagnosis-International-Society (PGDIS), Canterbury: ENGLAND, 29 Apr 2014-02 May 2014.

Zamani Esteki, M., Dimitriadou, E., Mateiu, L., Melotte, C., Van der Aa, N., Kumar, P., Das, R., Cheng, J., Legius, E., Moreau, Y., Debrock, S., D'Hooghe, T., Verdyck, P., De Rycke, M., Sermon, K., Vermeesch, J., Voet, T. (2014). Whole-genome single-cell haplotyping, a generic method for preimplantation genetic diagnosis. In: Chromosome Research: vol. 22 (4), (606-607). Presented at the 13th Annual Meeting of the Preimplantation-Genetic-Diagnosis-International-Society (PGDIS), Canterbury: ENGLAND, 29 Apr 2014-02 May 2014.

Hens, K., Winand, R., Dondorp, W., de Wert, G., Moreau, Y., Vermeesch, J., Liebaers, I., Aerts, J. (2014). In vitro screening and selection of embryos by whole-genome sequencing and analysis - assessment of its usefulness and ethical implications. Presented at the 30th Annual Meeting of ESHRE, Munich, Germany, 01 Jun 2014-01 Jul 2014.

Bazrgar, M., Gourabi, H., Karimpour-fard, A., Borjian, P., Zamani Esteki, M., Voet, T., Davani, N.A., Anisi, K., Banai, M., Kuroshli, Z., Movaghar, B., Borna, S., Valojerdi, M.R., Vermeesch, J. (2014). Genetic variation between tissues of normal human fetuses due to genome instabilities in preimplantation development. In: Chromosome Research: vol. 22 (4), (605-606). Presented at the 13th Annual Meeting of the Preimplantation-Genetic-Diagnosis-International-Society (PGDIS), Canterbury: ENGLAND, 29 Apr 2014-02 May 2014.

Melotte, C., Dimitriadou, E., Vermeesch, J. (2014). Oligonucleotide based array CGH test performance for detection of chromosomal imbalances in single cells. In: Chromosome Research: vol. 22 (4), (630-630). Presented at the 13th Annual Meeting of the Preimplantation-Genetic-Diagnosis-International-Society (PGDIS), Canterbury: ENGLAND, 29 Apr 2014-02 May 2014.

Poelmans, S., Kawamoto, T., Cristofoli, F., Politis, C., Vermeesch, J., Bailleul-Forestier, I., Hens, G., Devriendt, K., Verdonck, A., Carels, C. (2014). Genotype and phenotype variation in six cases with solitary median maxillary central incisor syndrome. Presented at the Congress of the European Orthodontic Society, Warsaw, 18 Jun 2014-22 Jun 2014.

Winand, R., Hens, K., Sifrim, A., Liebaers, I., Vermeesch, J., Moreau, Y., Aerts, J. (2013). Prediction accuracy for deleterious and disease causing mutations in healthy individuals. In: Benelux Bioinformatics Conference, (Abstract No. poster). Presented at the BBC 2013, Brussels, Belgium, 01 Dec 2013-01 Dec 2013.

Winand, R., Hens, K., Liebaers, I., Vermeesch, J., Moreau, Y., Aerts, J. (2013). Accuracy of algorithms and databases for the prediction of deleterious and disease causing mutations in healthy individuals. In: Proc. of ISMB/ECCB 2013, (1-1). Presented at the ISMB/ECCB 2013, Berlin, Germany, 01 Jul 2013-01 Jul 2013.

Dimitriadou, E., Van der Aa, N., Ardui, S., Cheng, J., Moreau, Y., Voet, T., Vermeesch, J. (2013). The cell cycle phase influences the accuracy of single cell genome wide array-CGH. In: Proceedings, (Abstract No. O-3). Presented at the 12th International Conference on Preimplantation Genetic Diagnosis, Istanbul, Turkey, 08 May 2013-11 May 2013.

Brady, P., Van Esch, H., Deprest, J., Devriendt, K., Vermeesch, J. (2013). Exome sequencing identifies inherited pathogenic variants for congenital diaphragmatic hernia. In: Proceedings. Presented at the Genomic Disorders 2013: From 60 years of DNA to human genomes in the clinic, Hinxton, Cambridge, UK, 10 Apr 2013-12 Apr 2013.

Breckpot, J., Thienpont, B., Bauters, M., Tranchevent, L-C., Gewillig, M., Allegaert, K., Vermeesch, J., Moreau, Y., Devriendt, K. (2013). Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1. In: Genetic Counseling: vol. 24 (1), (126-127). Presented at the 23rd European Meeting on Dysmorphology, Strasbourg, France, 06 Sep 2012-07 Sep 2012.

Devriendt, K., Naulaers, G., Legius, E., Fryns, J-P., Breckpot, J., Vermeesch, J., Hens, G., Rayyan, M. (2013). Chromosome 22q11.2 microdeletion: confirmation of the MN1-gene as a candidate gene for cleft palate. In: Genetic Counseling: vol. 24 (1), (98-99). Presented at the 23rd European Meeting on Dysmorphology, Strasbourg, France, 06 Sep 2012-07 Sep 2012.

Van der Aa, N., Cheng, J., Mateiu, L., Zamani Esteki, M., Kumar, P., Dimitriadou, E., Vanneste, E., Moreau, Y., Vermeesch, J., Voet, T. (2013). Genome-wide copy number profiling of single cells in S-phase reveals DNAreplication domains. In: Proceedings, (Abstract No. P22), (68-68). Presented at the Belgian Society of Human Genetics (BeSHG) 13th Annual Meeting “Genetics of Human Development EXPOsed”, Brussels, Belgium, 15 Mar 2013-15 Mar 2013.

Kumar, P., Lin, M-L., Van Loo, P., Cook, S., Marshall, J., Zamani Esteki, M., Van der Aa, N., Mateiu, L., McBride, D., Bignell, G., McLaren, S., Teague, J., Butler, A., Raine, K., Stebbings, L., Quail, M., D'Hooghe, T., Moreau, Y., Futreal, A., Stratton, M., Vermeesch, J., Campbell, P., Voet, T. (2013). Single-cell genome sequencing reveals DNA-mutation per cell cycle. In: Proceedings, (Abstract No. P68), (121-121). Presented at the Belgian Society of Human Genetics (BeSHG) 13th Annual Meeting “Genetics of Human Development EXPOsed”., Brussels, Belgium, 15 Mar 2013-15 Mar 2013.

Winand, R., Hens, K., Vermeesch, J., Moreau, Y., Aerts, J. (2013). Secondary use of genomic information: deleterious and disease causing mutations in healthy individuals. In: Proceedings, (Abstract No. 1O3), (30-30). Presented at the Belgian Society of Human Genetics (BeSHG) 13th Annual Meeting “Genetics of Human Development EXPOsed”, Brussels, Belgium, 15 Mar 2013-15 Mar 2013.

Zamani Esteki, M., Dimitriadou, E., Mateiu, L., Melotte, C., Jackmaert, S., Cheng, J., Van der Aa, N., Kumar, P., Brems, H., Legius, E., Moreau, Y., Debrock, S., D'Hooghe, T., De Rycke, M., Mertzanidou, A., Sermon, K., Vermeesch, J., Voet, T. (2013). Genome-wide single-cell Haplotyping, a generic method for preimplantation genetic diagnosis. In: Proceedings, (Abstract No. P112), (169-169). Presented at the Belgian Society of Human Genetics (BeSHG) 13th Annual Meeting “Genetics of Human Development EXPOsed”, Brussels, Belgium, 15 Mar 2013-15 Mar 2013.

Ardui, S., Brady, P., Vermeesch, J. (2013). Validation of a 60k Cytosure ISCA + SNP array for prenatal diagnosis. In: Proceedings, (Abstract No. T4), (41-41). Presented at the Belgian Society of Human Genetics (BeSHG) 13th Annual Meeting “Genetics of Human Development EXPOsed”, Brussels, Belgium, 15 Mar 2013-15 Mar 2013.

Dimitriadou, E., Van der Aa, N., Ardui, S., Voet, T., Vermeesch, J. (2013). The cell cycle phase influences the accuracy of single cell genome wide array CGH. In: Proceedings, (Abstract No. p55), (107-107). Presented at the Belgian Society of Human Genetics (BeSHG) 13th Annual Meeting “Genetics of Human Development EXPOsed”, Brussels, Belgium, 15 Mar 2013-15 Mar 2013.

Van Houdt, J., Souche, E., Herten, K., Jackmaert, S., Luyten, E., Brys, V., Dehaspe, L., Vermeesch, J. (2013). High-throughput sample identification and tracking for exome and custom targeted sequencing projects. In: Proceedings, (Abstract No. P108), (165-165). Presented at the Belgian Society of Human Genetics (BeSHG) 13th Annual Meeting “Genetics of Human Development EXPOsed”, Brussels, Belgium, 15 Mar 2013-15 Mar 2013.

Brady, P., Van Esch, H., Deprest, J., Devriendt, K., Vermeesch, J. (2013). Exome Sequencing Identifies Inherited Pathogenic Variants for Congenital Diaphragmatic Hernia. In: Proceedings, (Abstract No. P11), (56-56). Presented at the Belgian Society of Human Genetics (BeSHG) 13th Annual Meeting “Genetics of Human Development EXPOsed”, Brussels, Belgium, 15 Mar 2013-15 Mar 2013.

Cristofoli, F., Van Houdt, J., Dehaspe, L., Devriendt, K., Van Esch, H., Vermeesch, J. (2013). Looking for novel genes causing syndromic forms of microcephaly. In: Proceedings, (Abstract No. P59), (112-112). Presented at the Belgian Society of Human Genetics (BeSHG) 13th Annual Meeting “Genetics of Human Development EXPOsed”., Brussels, Belgium, 15 Mar 2013-15 Mar 2013.

Hestand, M., Nowakowska, B., Van Houdt, J., Dehaspe, L., Swillen, A., Devriendt, K., McDonald-McGinn, D., Vermeesch, J. (2013). Targeted re-sequencing of the remaining 22q11.2 region. In: Proceedings, (Abstract No. P111), (168-168). Presented at the Belgian Society of Human Genetics (BeSHG) 13th Annual Meeting “Genetics of Human Development EXPOsed”, Brussels, Belgium, 15 Mar 2013-15 Mar 2013.

Zink, A., Wohlleber, E., Zweier, M., Stefanova, M., Heilmann, S., Parkel, S., Jacquemont, S., Fricker, N., Martinet, D., Fagerberg, C., Lee, J., Dufke, A., Gregor, E., Rossier, E., Firth, H., Fryns, J-P., Vermeesch, J., Brockschmid, F., de Ravel de l'Argentière, T., Rauch, A., Becker, T., Wendland, J., Fröhlich, H., Engels, H. (2013). Genome-wide expression studies in 14 patients with microdeletion 5q14.3 syndrome - A novel tool for the systematic study of functional interactions and pathways. In: European Journal of Human Genetics: vol. 21, (Abstract No. P05.107), (181-181). Presented at the European Human Genetics Conference 2013, Paris, France, 08 Jun 2013-11 Jun 2013.

Vermeesch, J., Robberecht, C., Zamani Esteki, M., Nowakowska, B., Voet, T. (2013). Non-allelic homologous recombination betwen retrotransposable elements is a driver of de novo unblanced translocations. In: Proceedings. Presented at the Genomic Disorders 2013: From 60 years of DNA to human genomes in the clinic, Hinxton, Cambridge, UK, 10 Jan 2013-12 Jan 2013.

Souche, E., Van Houdt, J., Herten, K., Jackmaert, S., Matthijs, G., Vermeesch, J. (2013). High-throughput sample identification and tracking for exome and custom targeted sequencing projects. In: European Journal of Human Genetics: vol. 21, (Abstract No. P12.31), (330-330). Presented at the European Human Genetics Conference 2013, Paris, France, 08 Jun 2013-11 Jun 2013.

Sifrim, A., Popovic, D., Tranchevent, L-C., Konings, P., Vermeesch, J., Aerts, J., De Moor, B., Moreau, Y. (2013). eXtasy: variant prioritization by genomic data fusion. In: Proceedings. Presented at the Genomic Disorders 2013: From 60 years of DNA to human genomes in the clinic, Hinxton, Cambridge, UK, 10 Apr 2013-12 Apr 2013.

Vogels, A., Van Buggenhout, G., Weyts, E., Vermeesch, J., Fryns, J-P., Caeyenberghs, R. (2012). Microdeletions and microduplications in adults with intellectual disability and a psychiatric disorder. In: Abstract book. Presented at the The 15th SSBP International Meeting, Leuven, Leuven, Belgium, 11 Oct 2012-13 Oct 2012.

Winand, R., Borry, P., d'Haenens, L., Derboven, J., Dumortier, J., Geerts, D., Verhenneman, G., Vermeesch, J., Moreau, Y., Aerts, J. (2012). Extension of Healthy Life Using Preventive Genomics. In: Abstract book. Presented at the Capita selecta in Complex Disease Analysis 2012, Liège, Belgium, 30 May 2012-01 Jun 2012. [RES MULTIPUB]

Chabchoub, E., Chabchoub, I., Dimitrov, B., Ardeshirdavani, N., Vermeesch, J., Landolsi, A., Zakhama, A., Ben Ahkmed, S., Fryns, J-P. (2012). Rubinstein-Taybi-like syndrome: clinical and molecular genetics delineation. In: European Journal of Human Genetics: vol. 20, (Abstract No. P02.221), (95-95). Presented at the European Human Genetics Conference 2012 in conjunction with the European Meeting on Psychosocial Aspects of Genetics 2012, Nürnberg, Germany, 23 Jun 2012-26 Jun 2012. Brady, P., Mattheeuws, E., Dekoninck, P., Fryns, J-P., Deprest, J., Devriendt, K., Vermeesch, J. (2012). Prenatal array CGH identifies genomic imbalances associated with congenital diaphragmatic hernia (CDH). In: European Journal of Human Genetics: vol. 20, (Abstract No. P05.15), (146-146). Presented at the European Human Genetics Conference 2012 in conjunction with the European Meeting on Psychosocial Aspects of Genetics 2012, Nürnberg, Germany, 23 Jun 2012-26 Jun 2012. Chabchoub, E., Mlika, A., Attig, A., Zemni, R., BenMefteh, R., Kessentini, M., Kamoun, H., Mrad, R., Vermeesch, J., De Cock, P., Fryns, J-P. (2012). Copy number variations shape human brain: The contribution of the array-CGH in the understanding of the genetic bases of congenital brain malformations and cognitive disorders. In: European Journal of Human Genetics: vol. 20, (Abstract No. P02.053), (61-61). Presented at the European Human Genetics Conference 2012 in conjunction with the European Meeting on Psychosocial Aspects of Genetics 2012, Nürnberg, Germany, 23 Jun 2012-26 Jun 2012.

Voet, T., Van der Aa, N., Zamani Esteki, M., Kumar, P., Vanneste, E., Melotte, C., Konings, P., Debrock, S., Fryns, J-P., Moreau, Y., D'Hooghe, T., Stratton, M., Peter, C., Vermeesch, J. (2012). Chromosomal instability in the human preimplantation embryo. Presented at the PGDIS, Bregenz (Austria), 16 May 2012-19 May 2012.

Michils, G., Dehaspe, L., Hollants, S., Van Houdt, J., Vermeesch, J., Matthijs, G. (2012). BRCA1 and BRCA2 Sequence Homopolymers Jeopardize Mutation Detection on the High-Throughput Pyrosequencing Platforms. In: Current Oncology: vol. 19 (2), (Abstract No. P030). Presented at the The Fourth International Symposium on Hereditary Breast and Ovarian Cancer – BRCA: from Theory to Practice, Montreal, Canada, 25 Apr 2012-27 Apr 2012.

Thienpont, B., Bauters, M., Tranchevent, L-C., Gewillig, M., Allegaert, K., Vermeesch, J., Moreau, Y., Devriendt, K. (2012). Congenital heart defects in a novel rec urrent 22q11.2 deletion harboring CRKL and MAPK1. In: Tijdschrift van de Belgische Kinderarts: vol. 14 (1), (Abstract No. A 41). Presented at the 40ste Jaarlijks Congres van de Belgische Vereniging voor Kindergeneeskunde, Brussel, 23 Jan 2012-24 Jan 2012.

Isrie, M., Sifrim, A., Zamani Esteki, M., Dehaspe, L., Van Houdt, J., Peeters, H., Vermeesch, J., Van Esch, H. (2012). Exome sequencing and data analysis of consanguineous families with assumed autosomal recessive inheritance patterns: the (in)significance of linkage studies. In: Abstract book, (Abstract No. P30). Presented at the Belgian Society of Human Genetics (BeSHG) 12th Annual Meeting “Next Generation Sequencing and Recent Advances in Genetics”, Liège, Belgium, 02 Mar 2012-02 Mar 2012.

Sifrim, A., Kalender Atak, Z., Van Houdt, J., Pavlopoulos, G., Aerts, S., Vermeesch, J., Moreau, Y., Aerts, J. (2012). Computational annotation and interpretation of single nucleotide variation to identify disease-causing variants by next-generation sequencing. In: Abstract book, (Abstract No. O3). Presented at the Belgian Society of Human Genetics (BeSHG) 12th Annual Meeting “Next Generation Sequencing and Recent Advances in Genetics”, Liège, Belgium, 02 Mar 2012-02 Mar 2012.

Winand, R., Borry, P., d'Haenens, L., Derboven, J., Dumortier, J., Geerts, D., Verhenneman, G., Vermeesch, J., Moreau, Y., Aerts, J. (2012). Extension of Healthy Life Using Preventive Genomics. In: Abstract book, (Abstract No. P19). Presented at the Belgian Society of Human Genetics (BeSHG) 12th Annual Meeting “Next Generation Sequencing and Recent Advances in Genetics”, Liège, Belgium, 02 Mar 2012-02 Mar 2012. [RES]

Van der Aa, N., Cheng, J., Zamani Esteki, M., Kumar, P., Vanneste, E., Moreau, Y., Vermeesch, J., Voet, T. (2012). Single cell genomics from the cell cycle perspective. In: Abstract book, (Abstract No. P76). Presented at the Belgian Society of Human Genetics (BeSHG) 12th Annual Meeting “Next Generation Sequencing and Recent Advances in Genetics”, Liège, Belgium, 02 Mar 2012-02 Mar 2012.

Breckpot, J., Thienpont, B., Arens, Y., Tranchevent, L-C., Vermeesch, J., Moreau, Y., Gewillig, M., Devriendt, K. (2012). Array Comparative Genomic Hybridization as a clinical diagnostic tool in syndromic and non-syndromic congenital heart defects. In: Genetic Counseling: vol. 23 (1). Presented at the 22nd European Meeting on Dysmorphology, Strasbourg, France, 08 Sep 2011-09 Sep 2011.

Winand, R., Borry, P., d'Henens, L., Derboven, J., Dumortier, J., Geerts, D., Verhenneman, G., Vermeesch, J., Moreau, Y., Aerts, J. (2012). Extension of Healthy Life Using Preventive Genomics. In: Abstract book. Presented at the Genomic Disorders 2012 – The Genomics of Rare Diseases, . Hinxton, UK, 21 Mar 2012-24 Mar 2012.

De Rocker, N., Vergult, S., Van Oudenhove, E., Rosenberg, C., Frassinetti, P., Tumer, Z., Bena, F., Bottani, A., Bockaert, N., Roelens, F., Zuffardi, O., Koolen, D., Kleefstra, T., Bongers, E., de Ravel de l'Argentière, T., Fryns, J-P., Devriendt, K., Vermeesch, J., Mortier, G., Mokry, J., Shaffer, L., Menten, B. (2012). MYT1L, a new candidate gene for non-syndromic intellectual disability. In: Abstract book, (Abstract No. P70). Presented at the Belgian Society of Human Genetics (BeSHG) 12th Annual Meeting “Next Generation Sequencing and Recent Advances in Genetics”, Liège, Belgium, 02 Mar 2012-02 Mar 2012.

Balikova, I., Devriendt, K., Vermeesch, J., Fryns, J-P. (2012). FOXD1 duplication causes branchio oculo facial-like syndrome. In: Genetic Counseling: vol. 23 (1), (121-122). Presented at the 22nd European Meeting on Dysmorphology, Strasbourg, France, 08 Sep 2011-09 Sep 2011.

Lumaka Zola, A., Vanhole, C., Casteels, I., Ortibus, E., Vermeesch, J., Lukusa-Tshilobo, P., Devriendt, K. (2012). Variability in expression of a familial 2.79 Mb microdeletion in chr14q22.1-22.2. In: Genetic Counseling: vol. 23 (1). Presented at the 22nd European Meeting on Dysmorphology, Strasbourg, France, 08 Sep 2011-09 Sep 2011.

Nowakowska, B., Van Houdt, J., Swillen, A., Devriendt, K., Bouquillon, S., Novara, F., Le Caignec, C., Jakubowski, L., Hawula, W., Kutkowska-Kazmierczak, A., Obersztyn, E., Vermeesch, J. (2012). Targeted re-sequencing of the remaining 22q11.2 region in atypical DiGeorge patients. In: Abstract book, (Abstract No. O1). Presented at the Belgian Society of Human Genetics (BeSHG) 12th Annual Meeting “Next Generation Sequencing and Recent Advances in Genetics”, Liége, Belgium, 02 Mar 2012-02 Mar 2012.

Iqbal, S., Van den Bogaert, K., Vermeesch, J., De Cock, P., Ballon, K., Olivie, H., Teyaert, J., Fryns, J-P., Devriendt, K., Peeters, H. (2012). Structural variation of chromosomes in individuals with autism spectrum disorders. In: Abstract book, (Abstract No. P20). Presented at the Belgian Society of Human Genetics (BeSHG) 12th Annual Meeting “Next Generation Sequencing and Recent Advances in Genetics”, Liège, Belgium, 02 Mar 2012-02 Mar 2012.

Brady, P., Fryns, J-P., Devriendt, K., Deprest, J., Vermeesch, J. (2012). Prenatal Array CGH Identifies Genomic Imbalances Associated With Congenital Diaphragmatic Hernia (CDH). In: Abstract book, (Abstract No. P64). Presented at the Belgian Society of Human Genetics (BeSHG) 12th Annual Meeting “Next Generation Sequencing and Recent Advances in Genetics”, Liège, Belgium, 02 Mar 2012-02 Mar 2012.

Van Houdt, J., Nowakowska, B., Devriendt, K., Vermeesch, J. (2012). Whole exome sequencing of Nicolaides-Baraitser syndrome patients reveals the de novo nature of the underling defects. In: Abstract book, (Abstract No. P79). Presented at the Belgian Society of Human Genetics (BeSHG) 12th Annual Meeting “Next Generation Sequencing and Recent Advances in Genetics”, Liège, Belgium, 02 Mar 2012-02 Mar 2012.

Meire, F., Balikova, I., Vermeesch, J., De Baere, E., Van Heyningen, V. (2012). Aniridia: variable ocular and extra_ocular phenotypes, and evidence of genetic heterogeneity. In: Genetic Counseling: vol. 13 (1). Presented at the 22nd European Meeting on Dysmorphology, Strasbourg, France, 08 Sep 2011-09 Sep 2011.

de Ravel de l'Argentière, T., Holvoet, M., Vermeesch, J., Fryns, J-P. (2012). A link between the MSX2 gene and the Adams Oliver syndrome? In: Genetic Counseling: vol. 23 (1). Presented at the 22nd European Meeting on Dysmorphology, Strasbourg, France, 08 Sep 2011-09 Sep 2011.

Isrie, M., Froyen, G., Devriendt, K., de Ravel de l'Argentière, T., Fryns, J-P., Vermeesch, J., Van Esch, H. (2012). Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants. In: Genetic Counseling: vol. 23 (1), (113-114). Presented at the 22nd European Meeting on Dysmorphology, Strasbourg, France, 08 Sep 2011-09 Sep 2011.

Chabchoub, E., Zemni, R., Kamoun, H., Mrad, R., Cogülü, Ö., Rooryck, C., Diaz-Font, A., Osborn, D., Hernandez-Hernandez, V., Shamseldin, H., Kenny, J., Waters, A., Jenkins, D., Kaissi, A., Leal, G., Dallapiccola, B., Carnevale, F., Bitner-Glindzicz, M., Lees, M., Hennekam, R., Stanier, P., Burns, A., Alkuraya, F., Vermeesch, J., Jackmaert, S., Voet, T., Verloes, A., Peeters, H., Beals, P., Fryns, J-P. (2012). Genetic mapping of the 3MC syndrome: identification of underlying mutations in the lectin complement pathway genes COLEC11 and MASP1 and discovery of a novel paradigm in developmental genetics. In: Genetic Counseling: vol. 23 (1), (120-121). Presented at the 22nd European Meeting on Dysmorphology, Strasbourg, France, 08 Sep 2011-09 Sep 2011.

Peeters, H., Vermeesch, J., Van den Bogaert, K., de Ravel de l'Argentière, T., De Cock, P., Olivie, H., Steyaert, J., Fryns, J-P., Devriendt, K. (2012). Structural variation of chromosomes in individuals with autism spectrum disorders. In: Genetic Counseling: vol. 23 (1), (123-124). Presented at the 22nd European Meeting on Dysmorphology, Strasbourg, France, 08 Sep 2011-09 Sep 2011.

Winand, R., Borry, P., d'Haenens, L., Derboven, J., Dumortier, J., Geerts, D., Verhenneman, G., Vermeesch, J., Moreau, Y., Aerts, J. (2012). Extension of Healthy Life Using Preventive Genomics. In: Abstract book. Presented at the EMBL Conference: Omics and Personalised Health, Heidelberg, Germany, 16 Feb 2012-18 Feb 2012.

Winand, R., Hens, K., Dondorp, W., de Wert, G., Liebaers, I., Vermeesch, J., Aerts, J. (2012). Healthy embryos, healthy people ? Assessing the predictive value and clinical utility of whole genome analysis of in vitro embryos. Presented at the Personal genomes and medical genomics, New York, USA, 01 Nov 2012-01 Nov 2012.

Sifrim, A., Van Houdt, J., Tranchevent, L-C., Nowakowska, B., Sakai, R., Pavlopoulos GA, G., Devriendt, K., Vermeesch, J., Moreau, Y., Aerts, J. (2012). Annotate-it : a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease. In: Abstract book, (33-33). Presented at the Benelux Bioinformatics Conference 2012, Nijmegen, The Netherlands, 10 Dec 2012-11 Dec 2012.

Wieczorek, D., Bögershausen, N., Steiner-Haldenstätt, S., Pohl, E., Altmüller, J., Alanay Y., , Kayserili, H., Li, Y., Milz, E., Thiele, H., Martin, M., Albrecht, B., Caliebe, A., Czeschik, J., Elcioglu, N., Gener, B., Goecke, T., Houge, G., Kilic, E., Simsek Kiper, O., Lyonnet, S., Zweier, C., Tinschert, S., Nürnberg, P., Rahmann, S., Vermeesch, J., Zechnigk, M., Wollnik, B. (2012). The Coffin-Siris and Nicolaides Baraitser syndromes – clinical phenotypes of 43 prerviously unreported patients and mutational spectrum of the SWI/SNF complex. In: Proceedings. Presented at the . 15th Manchester Dysmorphology Conference, Manchester, UK., 22 Oct 2012-25 Oct 2012.

Briand-Suleau, A., Martinovic, J., Tosca, L., Tou, B., Brisset, S., Bouligand, J., Delattre, V., Giurgea, I., Goumy, C., Francannet, C., Guiochon-Mantel, A., Benachi, A., Vermeesch, J., Tachdjian, G., Vago, P., Goossens, M., Metay, C. (2012). Interstitial duplication/triplication 20q13.2: clinical, cytogenetical and genetical characterization. In: Proceedings. Presented at the 62nd Annual Meeting of The American Society of Human Genetics, San Francisco, USA, 06 Nov 2012-10 Nov 2012.

Lumaka Zola, A., Vanhole, C., Casteels, I., Ortibus, E., Vermeesch, J., Lukusa-Tshilobo, P., Devriendt, K. (2011). Variability in expression of chr14q22.1-22.2 microdeletion. Presented at the European Dysmorphology Meeting, Strasbourg, 01 Sep 2011-01 Sep 2011. Open Access

Voet, T., Vanneste, E., Zamani-Esteki, M., Van der Aa, N., Melotte, C., Jackmaert, S., Konings, P., Debrock, S., Fryns, J-P., Moreau, Y., D'Hooghe, T., Legius, E., Campbell, P., Stratton, M., Vermeesch, J. (2011). Somatic variation in early development. In: Chromosome Research. Presented at the European Cytogenetics Conference, Porto - Portugal, 02 Jul 2011-05 Jul 2011.

Voet, T., Vanneste, E., Esteki, M.Z., Van der Aa, N., Melotte, C., Jackmaert, S., Konings, P., Debrock, S., Fryns, J-P., Moreau, Y., D'Hooghe, T., Legius, E., Campbell, P., Stratton, M., Vermeesch, J. (2011). Comparative genomic hybridisation and next-generation sequencing: powerful tools to investigate chromosome number and structure in human embryos. In: Human reproduction: vol. 26. Presented at the 27th Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology Stockholm, SWEDEN, JUL 03-06, 2011.

Nowakowska, B., Van Houdt, J., Swillen, A., Devriendt, K., Vermeesch, J. (2011). Targeted re-sequencing of the 22q11.2 region in atypical DiGeorge patients. In: Chromosome Research, (Abstract No. 1.P52). Presented at the 8th European Cytogenetics Conference, Porto, Portugal, 02 Jul 2011-05 Jul 2011.

Melo, J., Lavoura, N., Santos, H., Vermeesch, J., Kosyakova, N., Liehr, T., Carreira, I. (2011). Small supernumerary marker chromosome derived from chromosome 5-genotype phenotype correlation of proximal chromosome 5 imbalances. In: Chromosome Research, (Abstract No. 1.P76). Presented at the 8th European Cytogenetics, Porto, Portugal, 02 Jul 2011-05 Jul 2011.

Backx, L., Seuntjens, E., Devriendt, K., Vermeesch, J., Van Esch, H. (2011). A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum. In: Chromosome Research, (Abstract No. 1.P41). Presented at the 8th European Cytogenetics Conference, Porto, Portugal, 02 Jul 2011-05 Jul 2011.

Nowakowska, B., De Leeuw, N., Ruivenkamp, C., Sikkema-Raddatz, B., Thoelen, R., Koopmans, M., Van der Kevie-Kersemaekers, A., Pfundt, R., Mieloo, H., Van Essen, T., De Vries, B., Fryns, J-P., Vermeesch, J. (2011). Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. (Abstract No. P68). Presented at the Belgian Society of Human Genetics (BeSHG) 11th Annual Meeting, Louvain-la-Neuve, Belgium, 04 Mar 2011-04 Mar 2011.

Melotte, C., Debrock, S., D'Hooghe, T., Legius, E., Fryns, J-P., Vermeesch, J. (2011). Pre-implantation genetic selection against balanced translocations. In: Chromosome Research, (Abstract No. 10.P36). Presented at the 8th European Cytogenetics Conference, Porto, Portugal, 02 Jul 2011-05 Jul 2011.

Vermeesch, J. (2011). Determining the accuracy of (single cell) molecular karyotyping by inernal and external quality assessment schemes. In: Chromosome Research. Presented at the 8th European Cytogenetics Conference, Porto, Portugal, 02 Jul 2011-05 Jul 2011.

Nowakowska, B., Van Houdt, J., Swillen, A., Devriendt, K., Vermeesch, J. (2011). Targeted re-sequencing of the 22q11 region in atypical DiGeorge patients. In: Proceedings, (Abstract No. P12.001). Presented at the European Human Genetics Conference, Amsterdam, The Netherlands, 28 May 2011-31 May 2011.

Cheng, J., Vanneste, E., Konings, P., Van Eyndhoven, W., Voet, T., Ampe, M., Verbeke, G., Vermeesch, J., Moreau, Y. (2011). Preimplantation Genetics Diagnosis using Single Cell 60-mer oligo arrayCGH platform. In: Proceedings, (Abstract No. P66). Presented at the Belgian Society of Human Genetics (BeSHG) 11th Annual Meeting, Louvain-la-Neuve, Belgium, 04 Mar 2011-04 Mar 2011.

Sifrim, A., Lay, Y., Van Houdt, J., Vermeesch, J., Moreau, Y., Aerts, J. (2011). Annotate-it: a framework and web-interface for the archival, management and interpretation of single nucleotide variants obtained by next generation sequencing. In: Proceedings. Presented at the The Genomics of Rare Diseases, Hinxton, Cambridge, UK, 23 Mar 2011-26 Mar 2011.

Zamani Esteki, M., Vanneste, E., Konings, P., Moreau, Y., D'Hooghe, T., Vermeesch, J., Voet, T. (2011). Genome-wide Haplotyping and Detection of Meiotic Homologous Recombination Sites in Single Cells. In: Proceedings, (Abstract No. O7). Presented at the Belgian Society of Human Genetics (BeSHG) 11th Annual Meeting, Louvain-la-Neuve, Belgium, 04 Mar 2011-04 Mar 2011.

Breckpot, J., Thienpont, B., Tranchevent, L-C., Vermeesch, J., Gewillig, M., Moreau, Y., Devriendt, K. (2011). Congenital heart defects in a novel recurrent 22q11.2 deletion syndrome harboring the genes CRKL and MAPK1. In: Proceedings, (Abstract No. P03.004). Presented at the European Human Genetics Conference, Amsterdam, The Netherlands, 28 May 2011-31 May 2011.

Van Houdt, J., Nowakowska, B., De Sousa, S.B., Van Schaik, B.D C., Seuntjens, E., Sifrim, A., Moreau, Y., Peeters, G., Devriendt, K., Hennekam, R.C M., Vermeesch, J. (2011). Whole exome sequencing reveals de novo variants that affect chromatin remodeling processes in Nicolaides-Baraitser syndrome patients. In: Proceedings, (Abstract No. 308), (123-123). Presented at the The 12th International Congress of Human Genetics and the American Society of Human Genetics 61st Annual Meeting, Montreal, Canada, 11 Oct 2011-15 Oct 2011.

Ghassibe, M., Desmyter, L., Langenberg, T., Hermans, K., Bayet, B., Pelerin, P., Claes, F., Backx, L., Brouillard, P., Dewerchin, M., Revency, N., Hecht, J., Mangold, E., Murray, J., Rubini, M., Vermeesch, J., Antoine-Poirel, H., Carmeliet, P., Vikkula, M., CLP Group, (2011). FAF1, the First Gene Associated with Cleft Palate. In: Proceedings, (Abstract No. O5). Presented at the Belgian Society of Human Genetics (BeSHG) 11th Annual Meeting, Louvain-la-Neuve, Belgium, 04 Mar 2011-04 Mar 2011.

Gabriel, H., Hastings, R., Vermeesch, J., Barton, D., Kamarainen, O., Patton, S., Elles, R. (2011). Quality Assessment scheme for Constitutional Molecular Karyotyping: lessons from. In: Medizinische Genetik: vol. 23, (Abstract No. P-Counse-292). Presented at the 22. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik, Regensburg, Germany, 19 Mar 2011-18 Mar 2011.

Koumbaris, G., Hatzisevastou-Loukidou, H., Alexandrou, A., Ioannides, M., Christodoulou, C., Fitzgeraldt, T., Rajan, D., Clayton, S., Kitsiou-Tzeli, S., Vermeesch, J., Skordis, N., Antoniou, P., Kurg, A., Georgiou, I., Carter, N., Patsalis, P. (2011). FoSTeS/MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation. In: Proceedings. Presented at the The Genomics of Rare Diseases, Hinxton, Cambridge, UK, 23 Mar 2011-26 Mar 2011.

Zink, A., Zweier, M., Wohlleber, E., Born, M., Stefanova, M., Heilmann, S., Parkel, S., Jacquemont, S., Kluck, N., Martinet, D., Fagerberg, C., Gregor, A., Firth, H., Alexander, M., Fryns, J-P., Vermeesch, J., Brockschmidt, F., Wendland, J., de Ravel de l'Argentière, T., Rauch, A., Engels, H. (2011). In-depth characterization of 14 patients with deletions of 5q14.3-q15: Is MEF2C the whole story? In: Medizinische Genetik: vol. 23, (Abstract No. P-CytoG-202). Presented at the ? 22. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik, Regensburg, Germany, 19 Mar 2011-18 Mar 2011.

Chabchoub, E., Mlika, A., Sohier, N., Ardeshirdavani, N., Pijkels, E., Vermeesch, J., De Cock, P., Fryns, J-P. (2011). Novel genomic imbalances in familial epilepsy syndromes: implications for genetic counseling. In: Proceedings, (Abstract No. P59). Presented at the Belgian Society of Human Genetics (BeSHG) 11th Annual Meeting, Louvain-la-Neuve, Belgium, 04 Mar 2011-04 Mar 2011.

Vermeesch, J. (2011). Chromosome instability is common in humna cleavage stage embryos. In: Proceedings. Presented at the The Genomics of Rare Diseases, Hinxton, Cambridge, UK, 23 Mar 2011-26 Mar 2011.

Robberecht, C., Utine, E., Salden, I., Fryns, J-P., Vermeesch, J. (2011). Origin of constitutional mosaicism for segmental aneusomy. In: Proceedings, (Abstract No. P22). Presented at the Belgian Society of Human Genetics (BeSHG) 11th Annual Meeting, Louvain-la-Neuve, Belgium, 04 Mar 2011-04 Mar 2011.

Chabchoub, E., Mlika, A., Ardeshirdavani, N., Boogaerts, A., Vermeesch, J., De Cock, P., Fryns, J-P. (2011). Congenital brain malformations and cognitive disorders : the contribution of the array-CGH in understanding how copy number variations shape our brain. In: Proceedings, (Abstract No. P54). Presented at the Belgian Society of Human Genetics (BeSHG) 11th Annual Meeting, Louvain-la-Neuve, Belgium, 04 Mar 2011-04 Mar 2011.

Soysal, Y., Vermeesch, J., Ardeshir-Davani, N., Hekimler, K., Tmirzanoglu, N. (2011). A 10.46Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism. In: Proceedings, (Abstract No. P02.179). Presented at the European Human Genetics Conference, Amsterdam, The Netherlands, 28 May 2011-31 May 2011.

Chabchoub, E., Ballon, K., Gielissen, N., Raaijmakers, A., Vermeesch, J., De Cock, P. (2011). Mendelian molecular cytogenetics in familial microcephaly: the Leuven’s experience. In: Proceedings, (Abstract No. P03.02f0). Presented at the European Human Genetics Conference, Amsterdam, The Netherlands, 28 May 2011-31 May 2011.

Melo, J., Jardim, A., Lavoura, N., Pires, M., Matoso, E., Vermeesch, J., Kosyakova, N. (2011). Refined molecular cytogenetic characterization of the breakpoints of small supernumerary marker chromosomes derived from chromosome 15. In: Proceedings, (Abstract No. P03.084). Presented at the European Human Genetics Conference, Amsterdam, The Netherlands, 28 May 2011-31 May 2011.

Brady, P., Mattheeuws, E., Deprest, J., Fryns, J-P., Devriendt, K., Vermeesch, J. (2011). The Use of Array CGH for Prenatal Diagnosis of Fetuses with Congenital Malformations detected by Ultrasound. In: Proceedings, (Abstract No. CO7.4). Presented at the European Human Genetics Conference, Amsterdam, The Netherlands, 28 May 2011-31 May 2011.

Nowakowska, B., Van Houdt, J., Swillen, A., Devriendt, K., Bouquillon, S., Novara, F., Le Caignec, C., Piotrowicz, M., Hawula, W., Kutkowska-Kazmierczak, A., Obersztyn, E., Vermeesch, J. (2011). Targeted re-sequencing of the remaining 22q11.2 region in atypical DiGeorge patients. In: Proceedings, (Abstract No. 1147F). Presented at the The 12th International Congress of Human Genetics and the American Society of Human Genetics 61st Annual Meeting, Montreal, Canada, 11 Oct 2011-15 Oct 2011.

Borel, C., Cheung, F., Guilmatre, A., Steiner, B., Brunner, H., MacKay, D., Perez de Nanclares, G., Eggermann, T., Gimelli, G., Schwartz, C., Vermeesch, J., Papenhausen, P., Ruivenkamp, C., Sharp, A. (2011). Genome-wide identification of new differentially methylated regions associated with imprinted genes. In: Proceedings, (Abstract No. 745T). Presented at the The 12th International Congress of Human Genetics and the American Society of Human Genetics 61st Annual Meeting, Montreal, Canada, 11 Oct 2011-15 Oct 2011.

Campbell, I., Nagamani, S., Erez, A., Robberecht, C., Ester, A., Bartnik, M., Wisniowiecka-Kowalnik, C., Derwinska, K., Bocian, E., Plunkett, K., Pursley, A., Shaw, C., Kang, S., Bi, W., Lalani, S., Bacino, C., Patel, A., Veltman, J., Vissers, L., Vermeesch, J., Cheung, S., Lupski, L., Stankiewicz, P. (2011). Frequency estimation of low-level somatic mosaicism for pathogenic CNVs. In: Proceedings. Presented at the The 12th International Congress of Human Genetics and the American Society of Human Genetics 61st Annual Meeting, Montreal, Canada, 11 Oct 2011-15 Oct 2011.

Vogels, A., Fryns, J-P., Legius, E., Vermeesch, J., Devriendt, K. (2011). The Nicolaides-Baraitser syndrome: description of five additional patients. In: Genetic Counseling: vol. 22 (1). Presented at the 21st European Meeting on Dysmorphology, Strasbourg, France, 02 Sep 2010-03 Sep 2010. Dimitrov, B., Balikova, I., de Ravel de l'Argentière, T., Van Esch, H., De Smedt, M., Baten, E., Vermeesch, J., Bradinova, I., Simeonov, E., Devriendt, K., Fryns, J-P., Debeer, P. (2011). 2q31.1 microdeletion syndrome- redefining the associated clinical phenotype. In: Genetic Counseling: vol. 22 (1). Presented at the 21st European Meeting on Dysmorphology, Strasbourg, France, 02 Sep 2010-03 Sep 2010.

Chabchoub, E., Ballon, K., Gielissen, N., Vermeesch, J., De Cock, P., Fryns, J-P. (2011). Familial microdeletion/microduplication 16p11.2-p12.1: further clinical and molecular delineation. In: Genetic Counseling: vol. 22 (1), (111-112). Presented at the 21st European Meeting on Dysmorphology, Strasbourg, France, 02 Sep 2010-03 Sep 2010.

de Ravel de l'Argentière, T., Philippe, K., Vermeesch, J., Fryns, J-P. (2011). Chromosome 6p21.32 microdeletion: an ideal anomaly. In: Genetic Counseling: vol. 22 (1). Presented at the 21st European Meeting on Dysmorphology, Strasbourg, France, 02 Sep 2010-03 Sep 2010.

Crepel, A., Freson, K., Goubau, C., Buyse, G., Vermeesch, J., Van Goethem, G., Van Geet, C., Devriendt, K. (2011). FOXG1 haploinsufficiency due to a position effect by a balanced translocation in a boy with congenital Rett variant. In: Genetic Counseling: vol. 22 (1), (117-118). Presented at the 21st European Meeting on Dysmorphology, Strasbourg, France, 02 Sep 2010-03 Sep 2010.

Breckpot, J., Budts, W., de Zegher, F., Vermeesch, J., Devriendt, K. (2011). Duplication of the TGFBR1 gene in a boy with features of Loeys-Dietz Syndrome. In: Genetic Counseling: vol. 22 (1), (126-127). Presented at the 21st European Meeting on Dysmorphology, Strasbourg, France, 02 Sep 2010-03 Sep 2010.

Brady, P., Devriendt, K., Fryns, J-P., Deprest, J., Vermeesch, J. (2011). Array CGH Identifies Novel Recurrent & Non-Recurrent Genomic Imbalances associated with CDH. Presented at the Congenital Diaphragmatic Hernia: More Questions than Answers?, Rome, Italy, 01 Feb 2011-03 Feb 2011.

Belay, E., Matrai, J., Acosta-Sanchez, A., Quattrocelli, M., Mates, L., Sancho Bru, P., Geraerts, M., Vermeesch, J., Rincon Acelas, M.Y., Samara-Kuko, E., Ivics, Z., Verfaillie, C., Sampaolesi, M., Izsvak, Z., VandenDriessche, T., Chuah, M.K L. (2010). "Taming" iPS: Coaxed differentiation of iPS into myogenic precursors using hyperactive transposons expressing the myogenic transcription factor PAX3. In: Human gene therapy: vol. 21 (10), (1369-1370). Presented at the 18th Annual Congress of the European-Society-of-Gene-and-Cell-Therapy, Milan, ITALY.

Vanneste, E., Voet, T., Melotte, C., Vandendael, T., Declercq, M., Vervoort, C., Debrock, S., Fryns, J-P., D'Hooghe, T., Vermeesch, J. (2010). The cleavage stage embryo is the cradle of chromosomal rearrangements. In: Human reproduction: vol. 25. Presented at the 26th Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology, Rome, ITALY, 27 Jun 2010-30 Jun 2010.

Voet, T., Vanneste, E., Ampe, M., Konings, P., Melotte, C., Fryns, J-P., Verbeke, G., D'Hooghe, T., Moreau, Y., Vermeesch, J. (2010). Microarray technology in PGD. Presented at the ESHRE-SIG Reproductive Genetics workshop, Porto - Portugal, 16 Apr 2010-16 Apr 2010.

Chuah, M., Belay, E., Matrai, J., Acosta Sanchez, A., Ma, L., Quattrocelli, M., Mates, L., Sancho-Bru, P., Geraerts, M., Yan, B., Vermeesch, J., Samara, E., Ivics, Z., Verfaillie, C., Sampaolesi, M., Izsvak, Z., Vandendriessche, T. (2010). Hyperactive transposons for genetic modification of induced pluripotent and adult stem cells: a novel non-viral paradigm for coaxed differentiation. In: Human gene therapy: vol. 21 (9), (1174-1174). Presented at the 7th Annual Meeting of German-Society-for-Gene-Therapy (DG-GT e.V.), Munich, GERMANY.

Voet, T., Vanneste, E., Peeters, H., Konings, P., Cheng, J., Ampe, M., Debrock, S., Verbeke, G., Moreau, Y., Fryns, J-P., D'Hooghe, T., Legius, E., Vermeesch, J. (2010). Genome-wide SNP-, CNV- and haplo-typing of single human cells. In: Proceedings, (Abstract No. P76). Presented at the Belgian Society of Human Genetics (BeSHG) 10th Annual Meeting: “The Dark Side of the Human Genome”, Ghent, Belgium, 26 Feb 2010-26 Feb 2010.

Dimitrov, B., Voet, T., De Smet, L., Vermeesch, J., Devriendt, K., Fryns, J-P., Debeer, P. (2010). Genomic rearrangements of the GREM1-FMN1 locus cause Oligosyndactyly, Radio-Ulnar synostosis, Hearing loss, Renal defects syndrome and Cenani-Lenz-like non-syndromic Oligosyndactyly. In: European Journal of Human Genetics: vol. 18, (Abstract No. C08.2), (29-29). Presented at the European Human Genetics Conference 2010 (ESHG 2010) in conjunction with the European Meeting on Psychosocial Aspects of Genetics.

Gabriel, H., Vermeesch, J., Patton, S., Elles, R., Hastings, R. (2010). European external quality assessment (EQA) for Constitutional molecular karyotyping: Experiences from the EMQN/CEQA pilot scheme. In: medizinische genetik: vol. 22 (1), (Abstract No. W3-04), (74-74). Presented at the 21. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik, Aachen, Germany, 02 Mar 2010-04 Mar 2010.

Ewers, E., Sheth, F., Kosyakova, N., Weise, A., sheth, J., Desai, M., Andrieux, J., Vermeesch, J., Hamid, A., Ziegler, M., Liehr, T. (2010). A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome – evidence for an underestimated entity? In: Medizinische Genetik: vol. 22 (1), (Abstract No. P-CytoG-132), (134-134). Presented at the 21. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik, Aachen, Germany, 02 Mar 2010-04 Mar 2010.

Vanneste, E., Melotte, C., Ullman, U., Staessen, C., Liebaers, I., Voet, T., Debrock, S., Pexsters, A., Tomassetti, C., Fryns, J-P., D'Hooghe, T., Vermeesch, J. (2010). Genome-wide single cell array analysis for preimplantation genetic diagnosis of a complex chromosomal rearrangement carrier. In: European Journal of Human Genetics: vol. 18, (Abstract No. C06.5), (27-27). Presented at the European Human Genetics Conference 2010 (ESHG 2010) in conjunction with the European Meeting on Psychosocial Aspects of Genetics.

Stoeva, R., Vogels, A., Thoelen, R., Voet, T., Fryns, J-P., Vermeesch, J. (2010). An Xp22.33 duplication flanking the pseudoautosomal region translocated on Yp11.2. In: European Journal of Human Genetics: vol. 18, (Abstract No. P03.093), (123-123). Presented at the European Human Genetics Conference 2010 (ESHG 2010) in conjunction with the European Meeting on Psychosocial Aspects of Genetics, -.

Srisupundit, K., Brady, P., Deprest, J., Fryns, J-P., Vermeesch, J. (2010). The use of array CGH for the detection of genomic imbalances in patients with CDH. In: Proceedings, (Abstract No. 032), (40-40). Presented at the the European Congress of Obstetrics and Gynecology (EBCOG), Antwerp, Belgium, 05 May 2010-08 May 2010.

Vermeesch, J. (2010). cradle of constitutional chromosome rearrangements is the cleavage stage embryo. In: European Journal of Human Genetics: vol. 18, (Abstract No. S01.1), (7-7). Presented at the European Human Genetics Conference 2010 (ESHG 2010) in conjunction with the European Meeting on Psychosocial Aspects of Genetics.

Michils, G., Hollants, S., Van Houdt, J., Vliegen, L., Brys, V., Vermeesch, J., Cuppens Harry, H., Matthijs, G. (2010). Next Generation Sequencing (NGS) in molecular diagnostics: evaluation of data analysis software tools and application to BRCA1/2 testing. In: European Journal of Human Genetics: vol. 18, (Abstract No. P06.118), (186-186). Presented at the European Human Genetics Conference 2010 (ESHG 2010) in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Gothenburg, Sweden, 12 Jun 2010-15 Jun 2010.

Grozdanova, L., Stoeva, R., Vermeesch, J., Fryns, J-P., Dimitrov, B., Thoelen, R., Stefanova, M. (2010). BAC array analysis detects microdeletions on chromosome region 20p12.1 in two unrelated individuals with MR/ MCA syndrome. In: European Journal of Human Genetics: vol. 18, (Abstract No. P02.010), (60-60). Presented at the European Human Genetics Conference 2010 (ESHG 2010) in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Gothenburg, Sweden, 12 Jun 2010-15 Jun 2010.

Chabchoub, E., Debeer, P., Vermeesch, J., De Cock, P., Fryns, J-P. (2010). Cephalopolysyndactyly syndrome with agenesis of the corpus callosum: The contribution of array comparative genomic hybridization. In: European Journal of Human Genetics: vol. 18, (Abstract No. P02.088), (78-78). Presented at the European Human Genetics Conference 2010 (ESHG 2010) in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Gothenburg, Sweden, 12 Jun 2010-15 Jun 2010.

Nowakowska, B., De Leeuw, N., Thoelen, R., Pfundt, R., Mieloo, H., De Vries, B., Fryns, J-P., Vermeesch, J. (2010). Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. In: European Journal of Human Genetics: vol. 18, (Abstract No. P03.064), (117-117). Presented at the European Human Genetics Conference 2010 (ESHG 2010) in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Gothenburg, Sweden, 12 Jun 2010-15 Jun 2010.

Gabriel, H., Vermeesch, J., Patton, S., Elles, R., Hastings, R. (2010). European external quality assessment (EQA) for Constitutional molecular karyotyping: Experiences from the CEQA/EMQN pilot scheme. In: European Journal of Human Genetics: vol. 18, (Abstract No. P1F5.06), (367-368). Presented at the European Human Genetics Conference 2010 (ESHG 2010) in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Gothenburg, Sweden, 12 Jun 2010-15 Jun 2010.

Breckpot, J., Jackmaert, S., Voet, T., Vermeesch, J., Gewillig, M., Devriendt, K. (2010). Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. In: European Journal of Human Genetics: vol. 18, (Abstract No. P03.068), (118-118). Presented at the European Human Genetics Conference 2010 (ESHG 2010) in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Gothenburg, Sweden, 12 Jun 2010-15 Jun 2010.

Patsalis, P., Koumbaris, G., Hatzisevastou, C., Kurg, A., Kitsiou Tzeli, S., Scordis, N., Kosmaidou, Z., Vermeesch, J., Georgiou, I., Carter, N. (2010). X-chromosome disorders: identification of underlying mechanisms. In: European Journal of Human Genetics: vol. 18, (Abstract No. P03.087), (122-122). Presented at the European Human Genetics Conference 2010 (ESHG 2010) in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Gothenburg, Sweden, 12 Jun 2010-15 Jun 2010.

Breckpot, J., Thienpont, B., Peeters, H., Vermeesch, J., Gewillig, M., Devriendt, K. (2010). High-resolution genome-wide copy number analysis diagnoses 28 out of 150 patients with idiopathic syndromic congenital heart defects. In: Cardiology in the Young: vol. 20, (Abstract No. 8289). Presented at the -, -.

Breckpot, J., Thienpont, B., Béna, F., Philip, N., Menten, B., Van Esch, H., Scalais, E., Salamone, J., Fong, C., Kussmann, J., Grance, D., Gorski, J., Zahir, F., Yong, S., Morris, M., Gimelli, S., Fryns, J-P., Mortier, G., Friedman, J., Villard, L., Bottani, A., Vermeesch, J., Scheung, S., Devriendt, K. (2010). Duplications of the critical Rubinstein Taybi deletion region on chromosome 16p13.3 cause a novel recognizable syndrome. In: Genetic Counseling: vol. 21 (1). Presented at the 20th European Meeting on Dysmorphology, Strasbourg, France, 03 Sep 2009-04 Sep 2009.

Peeters, H., Chabchoub, E., Vermeesch, J., Fryns, J-P. (2010). Carnevale and mingarelli syndromes are part of the same entity. In: Genetic Counseling: vol. 21 (1). Presented at the 20th European Meeting on Dysmorphology, Strasbourg, France, 03 Sep 2009-04 Sep 2009.

Van Houdt, J., Devriendt, K., Van Esch, H., Fryns, J-P., Vermeesch, J. (2010). Targeted re-sequencing of the 22q11 region in atypical DiGeorge patients. In: Proceedings, (Abstract No. P70). Presented at the Belgian Society of Human Genetics (BeSHG) 10th Annual Meeting: “The Dark Side of the Human Genome”, Ghent, Belgium, 26 Feb 2010-26 Feb 2010.

Balikova, I., de Ravel de l'Argentière, T., Ayuso, C., villaverde, C., Devriendt, K., Vermeesch, J., Fryns, J-P. (2010). High frequency of copy number alterations in patients with congenital eye malformations. In: Genetic Counseling: vol. 21 (1). Presented at the 20th European Meeting on Dysmorphology, Strasbourg, France, 03 Sep 2009-04 Sep 2009.

Brady, P., Srisupundit, K., Deprest, J., Fryns, J-P., Vermeesch, J. (2010). The use of array CGH for the detection of genomic imbalances in patients with congenital diaphragmatic hernia. In: Proceedings, (Abstract No. P8). Presented at the Belgian Society of Human Genetics (BeSHG) 10th Annual Meeting: “The Dark Side of the Human Genome”, Ghent, Belgium, 26 Feb 2010-26 Feb 2010.

Michils, G., Hollants, S., Van Houdt, J., Vliegen, L., Brys, V., Vermeesch, J., Cuppens Harry, H., Matthijs, G. (2010). Next Generation Sequencing (NGS) as a tool for molecular diagnostics: practical aspects of validation and data analysis. In: Proceedings, (Abstract No. P47). Presented at the Belgian Society of Human Genetics (BeSHG) 10th Annual Meeting: “The Dark Side of the Human Genome”, Ghent, Belgium, 26 Feb 2010-26 Feb 2010.

de Ravel de l'Argentière, T., Devriendt, K., Vermeesch, J., Fryns, J-P. (2010). Array CGH, the double-edged result: the explanation but also an unexpected prediction. In: Genetic Counseling: vol. 21 (1). Presented at the 20th European Meeting on Dysmorphology, Strasbourg, France, 03 Sep 2009-04 Sep 2009.

Chabchoub, E., Mlika, I., Dimitrov, B., Landolsi, A., Gielissen, N., Ardeshirdavani, N., Boogaerts, A., Vermeesch, J., Zakhama, A., Ben Ahmed, S., De Cock, P., Fryns, J-P. (2010). Rubinstein-Taybi-like syndrome: the contribution of array-based comparative genomic hybridization (aCGH). In: Proceedings, (Abstract No. P11). Presented at the Belgian Society of Human Genetics (BeSHG) 10th Annual Meeting: “The Dark Side of the Human Genome”, Ghent, Belgium, 26 Feb 2010-26 Feb 2010.

Robberecht, C., Pexsters, A., D'Hooghe, T., Fryns, J-P., Vermeesch, J. (2010). SYCP3 mutations are not common in patients with recurrent pregnancy loss. In: Proceedings, (Abstract No. P59). Presented at the Belgian Society of Human Genetics (BeSHG) 10th Annual Meeting: “The Dark Side of the Human Genome”, Ghent, Belgium, 26 Feb 2010-26 Feb 2010.

Vanneste, E., Melotte, C., Ullman, U., Staessen, C., Liebaers, I., Voet, T., Debrock, S., D'Hooghe, T., Vermeesch, J. (2010). Replacement of FISH by genome-wide single cell array analysis for preimplantation genetic diagnosis of translocation carriers. In: Proceedings, (Abstract No. P72). Presented at the Belgian Society of Human Genetics (BeSHG) 10th Annual Meeting: “The Dark Side of the Human Genome”, Ghent, Belgium, 26 Feb 2010-26 Feb 2010.

Dimitrov, B., Vermeesch, J., Devriendt, K., Fryns, J-P., Debeer, P. (2010). Genomic rearrangements of the grem1-fmn1 locus cause oligosyndactyly, hearing loss, renal defects syndrome and Cenani-Lenz-like non-syndromic oligosyndactyly. In: Genetic Counseling: vol. 21 (1), (143-144). Presented at the 20th European Meeting on Dysmorphology, Strasbourg, France, 03 Sep 2009-04 Sep 2009.

Hannes, F., Voet, T., Fryns, J-P., Vermeesch, J. (2010). Terminal chromosome 4p deletions are stabilized by direct addition of telomere repeats. In: Proceedings, (Abstract No. P32). Presented at the Belgian Society of Human Genetics (BeSHG) 10th Annual Meeting: “The Dark Side of the Human Genome”, Ghent, Belgium, 26 Feb 2010-26 Feb 2010.

Denayer, E., Brems, H., Thienpont, B., De Cock, P., Evans, D., Van Calenbergh, F., Sciot, R., Debiec-Rychter, M., Vermeesch, J., Devriendt, K., Fryns, J-P., Legius, E. (2010). Neurofibromatosis type 2 in two patients with chromosomal abnormalities of chromosome 22. In: Genetic Counseling: vol. 21 (1). Presented at the 20th European Meeting on Dysmorphology, Strasbourg, France, 03 Sep 2009-04 Sep 2009.

Leroy, C., Landais, E., Bednarek, N., Jonveaux, P., Beri-Dexheimer, M., Mozelle-Nivoix, M., Motte, J., Cochot, J., Khoury, M., Mangeonjean, C., Gruxon, N., Michel, N., Clomes, S., Riot, A., Vermeesch, J. (2010). Discordances et difficultés d’interprétation des analyses génomiques globales dans le bilan étiologique du retard mental: à propos de 66 patients. In: Proceedings. Presented at the XXème Colloque ACLF, Aix-en-Provence, France, 20 Sep 2010-22 Sep 2010.

Brady, P., Srisupundit, K., Mattheeuws, E., Devriendt, K., Fryns, J-P., Cruz-Martinez, R., Gratacos, E., Deprest, J., Vermeesch, J. (2010). Array CGH for the Identification of Genomic Imbalances Associated With Congenital Diaphragmatic Hernia & Prenatal Congenital Anomalies. Presented at the International Society for Prenatal Diagnosis (ISPD) 15th International Conference on Prenatal Diagnosis and Therapy, Amsterdam, Netherlands, 11 Jul 2010-14 Jul 2010.

Kamarainen, O., Patton, S., Elles, R., Hastings, R., Vermeesch, J., Gabriel, H. (2009). New Technologies in Diagnostic Testing - Assessing the Quality of Molecular Karyotyping by Array CGH/SNP Microarrays. Results of an International. In: Journal of molecular diagnostics: vol. 11 (6), (626-626). Presented at the . Annual Meeting of the Association-for-Molecular-Pathology, Orlando, FL, USA, 19 Nov 2009-22 Nov 2009.

Crolla, J., Ledbetter, D.H., Martin, C.L., Aradhya, S., Knight, S.J L., Smith, K., Kok, K., Vermeesch, J. (2009). International Standardised Cytogenomic Array (ISCA) Consortium: an approach to the design, implementation and reporting of constitutional oligo array-cgh. In: Journal of medical genetics: vol. 46. Presented at the British Human Genetics Conference, Univ Warwick, York, England, 31 Aug 2009-02 Sep 2009.

Voet, T., Vanneste, E., Peeters, H., Konings, P., Legius, E., Fryns, J-P., D'Hooghe, T., Moreau, Y., Vermeesch, J. (2009). Haplotyping of single human cells. Presented at the ESHRE post congress workshop: Use of Arrays in PGD/PGS. (Organised by ESHRE PGD Consortium/SIG Reproductive Genetics), Amsterdam, 02 Jul 2009-02 Jul 2009.

Voet, T., Vanneste, E., Peeters, H., Konings, P., Fryns, J-P., D'Hooghe, T., Moreau, Y., Vermeesch, J. (2009). Haplotyping of single human cells. In: Chromosome research: vol. 17, (106-106). Presented at the 7th European cytogenetics Conference, Stockholm, Sweden, 04 Jul 2009-07 Jul 2009.

Vermeesch, J., Van Vooren, S. (2009). Cgh bench. In: Chromosome research: vol. 17, (14-14). Presented at the 7th European cytogenetics Conference, Stockholm, Sweden, 04 Jul 2009-07 Jul 2009. Vanneste, E., Voet, T., Ampe, M., Konings, P., Melotte, C., Fryns, J-P., Verbeke, G., D'Hooghe, T., Moreau, Y., Vermeesch, J. (2009). Chromosome instability is common in human cleavage stage embryos. In: Chromosome research: vol. 17, (202-202). Presented at the 7th European cytogenetics Conference, Stockholm, Sweden, 04 Jul 2009-07 Jul 2009. Open Access Dimitriadou, E., Theodoropoulos, K., Lalou, I., Tzoufi, M., Vermeesch, J., Fryns, J-P., Kitsiou, S., Syrrou, M. (2009). Interstitial de novo del(1)(q25.1q31.3): clinical presentation and molecular description with array-CGH. In: Chromosome research: vol. 17, (35-35). Presented at the 7th European cytogenetics Conference, Stockholm, Sweden, 04 Jul 2009-07 Jul 2009. Patsalis, P., Koumbaris, G., Hatzisevastou, C., Kurg, A., Tzeli, S.K., Scordis, N., Kosmaidou, Z., Vermeesch, J., Georgiou, I., Carter, N. (2009). X-chromosome disorders: Identification of underlying mechanisms. In: Chromosome research: vol. 17, (30-31). Presented at the 7th European cytogenetics Conference, Stockholm, Sweden, 04 Jul 2009-07 Jul 2009. Melo, J., Kosyakova, N., Liehr, T., Backx, L., Vermeesch, J., Carreira, I. (2009). Multicolour FISH versus array CGH techniques. Which to choose for the characterization of small supernumerary marker chromosomes? In: Chromosome research: vol. 17, (190-191). Presented at the 7th European cytogenetics Conference, Stockholm, Sweden, 04 Jul 2009-07 Jul 2009. Thienpont, B., Breckpot, J., Gewillig, M., Vermeesch, J., Devriendt, K. (2009). Dosage of chromatin remodelling enzymes is critical for human heart development. In: Cellular oncology: vol. 31 (2), (148-148). Presented at the 3rd Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD), Edinburgh, Scotland, 01 Apr 2009-05 Apr 2009. Belay, E., Matrai, J., Quatrocelli, M., Mates, L., Acosta Sanchez, A., Sancho Bru, P., Geraerts, M., Vanuytsel, K., Yan, B., Ma, L., Bueren, J., Vermeesch, J., Samara, E., Verfaillie, C., Sampaolesi, M., Ivics, Z., Izsvak, Z., Vandendriessche, T., Chuah, M. (2009). Hyperactive transposons for gene delivery into iPS and adult stem cells: a novel paradigm for coaxed differentiation. In: Human Gene Therapy: vol. 20, (1410-1410). Presented at the Annual Meeting of the European Society of Gene & Cell Therapy, Hannover, Germany, 20 Nov 2009-25 Nov 2009. Balikova, I., de Ravel, T., Vermeesch, J., Fryns, J-P. (2009). Unusual clinical phenotype in a patient with deletion of the downstream regulatory region of pax6. In: Cellular oncology: vol. 31 (2), (134-134). Presented at the 3rd Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD), Edinburgh, Scotland, 01 Apr 2009-05 Apr 2009. Christodoulou, C., Panayiotou, E., Koumbaris, G., Rajan, D., Fitzgerald, T., Gribble, S., Clayton, S., Hatzisevastou, C., Kurg, A., Tzeli, K.S., Anastasiadou, V., Scordis, N., Kosmaidou, Z., Vermeesch, J., Mavrou, A., Kolialexi, A., Yalla, A., Georgiou, I., Carter, N., Patsalis, P.C. (2009). Identification of underlying mechanisms in x-chromosome disorders. In: Cellular oncology: vol. 31 (2), (114-115). Presented at the 3rd Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD), Edinburgh, Scotland, 01 Apr 2009-05 Apr 2009. Picavet, E., Voet, T., Thienpont, B., Jackmaert, S., Van Esch, H., Vermeesch, J. (2009). Detection of copy number variation in individuals with brain malformations. (Abstract No. P49). Presented at the Belgian Society of Human Genetics, 9th Annual Meeting, Brussels, 13 Feb 2009-13 Feb 2009. Thienpont, B., Breckpot, J., Zang, L., Tranchevent, L-C., Van Loo, P., Mollgard, K., Tommerup, N., Bache, I., Tümer, Z., Waggoner, D., Gewillig, M., Peeters, H., Moreau, Y., Vermeesch, J., Larssen, L., Devriendt, K. (2009). An aCGH screening study in 150 patients identifies a novel dosage-sensitive gene, TAB2, which is disrupted in multiple patients with cardiac defects. In: European Journal of Human Genetics: vol. 17, (Abstract No. C11.1). Presented at the European Human Genetics Conference 2009 (ESHG), Vienna, Austria, 23 May 2009-26 May 2009. Konings, P., Vanneste, E., Voet, T., Vermeesch, J., Moreau, Y. (2009). Genome-wide detection of genomic variation in single cells. Presented at the Second Biennial Newcastle Workshop on Statistical Bioinformatics and Stochastic Systems Biology, 18 May 2009-19 May 2009. Vermeesch, J., Vanneste, E., Voet, T., Ampe, M., Konings, P., Debrock, S., Verbeke, G., D'Hooghe, T., Moreau, Y. (2009). Genome wide CNV and SNP detection in cleavage stage embryos uncovers chromosomal instability. Presented at the ESHRE post congress workshop: Use of Arrays in PGD/PGS. Amsterdam, (Organised by ESHRE PGD Consortium/SIG Reproductive Genetics), 02 Jul 2009-02 Jul 2009. Voet, T., Vanneste, E., Peeters, H., Konings, P., Fryns, J-P., D'Hooghe, T., Moreau, Y., Vermeesch, J. (2009). Haplotyping of single human cells. (Abstract No. O10). Presented at the Belgian Society of Human Genetics, 9th Annual Meeting, Brussels, 13 Feb 2009-13 Feb 2009. Vanneste, E., Voet, T., Ampe, M., Konings, P., Fryns, J-P., D'Hooghe, T., Moreau, Y., Vermeesch, J. (2009). How normal is a normal human embryo. (Abstract No. O9). Presented at the Belgian Society of Human Genetics, 9th Annual Meeting, Brussels, 13 Feb 2009-13 Feb 2009. Vandendael, T., Vanneste, E., Voet, T., Le Caignec, C., Ampe, M., Konings, P., Melotte, C., Debrock, S., Amyere, M., Vikkula, M., Schuit, F., Fryns, J-P., Verbeke, G., D'Hooghe, T., Moreau, Y., Vermeesch, J. (2009). Combined single-cell FISH and arrayCGH show that segmental aneuploidies do occur in embryos. (Abstract No. P66). Presented at the Belgian Society of Human Genetics, 9th Annual Meeting, Brussels, 13 Feb 2009-13 Feb 2009. Vanhevel, I., Race, V., Matthijs, G., Moreau, Y., Vermeesch, J. (2009). Detection of low-level mosaicisms by array CGH. In: European Journal of Human Genetics: vol. 17, (Abstract No. P03.099). Presented at the European Human Genetics Conference 2009 (ESHG), Vienna, Austria, 23 May 2009-26 May 2009. Feenstra, I., Houge, G., Vermeesch, J., Van Buggenhout, G., Romano, C., Fichera, M., Reitano, S., Vermeer, S., Rayen, I., Vissers, L., Brunner, H., Veltman, J., de Leeuw, N., de Vries, B., van Ravenswaaij-Arts, C. (2009). Pitt-Hopkins and the Grouchy syndrome: two recurrent 18q microdeletion syndromes. In: Genetic Counseling: vol. 20 (1), (109-110). Presented at the 19th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 04 Sep 2008-05 Sep 2008. Chabchoub, E., Vermeesch, J., De Cock, P., Fryns, J-P. (2009). A de novo duplication 9q34 syndrome in a girl with severe mental retardation, epilepsy, Marfanoid syndrom and Lipodystrophy. In: Genetic Counseling: vol. 20 (1). Presented at the 19th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 04 Sep 2008-05 Sep 2008. Vermeesch, J. (2009). Molecular karyotyping: From postnatal to preimplantation genetic diagnosis? In: European Journal of Human Genetics: vol. 17, (Abstract No. S09.1). Presented at the European Human Genetics Conference 2009 (ESHG), Vienna, Austria, 23 May 2009-26 May 2009. Hannes, F., Hammond, P., Quarrell, Q., Swinnen, L., Vermeesch, J., Devriendt, K. (2009). An Atypical Familial 4p16.3 deletion associated with Mild Wolf-Hirschhorn syndrome illustrates the power of 3D Shape analysis of Facial Dysmorphology. In: Genetic Counseling: vol. 20 (1), (105-106). Presented at the 19th European Meeting on Dysmorphology, Strasbourg, France, 04 Sep 2008-05 Sep 2008. Ziegler, M., Melo, J., Carreira, I., Polityko, A., Junge, A., Kelbova, C., Heilbronner, H., Backx, L., Vermeesch, J., Kosyakova, N., Ewers, E., Liehr, T., Weise, A. (2009). Molecular cytogenetic characterization of four new cases with a small supernumerary marker chromosome derived from chromosome 16. In: Medizinische Genetik: vol. 21, (Abstract No. P074). Presented at the 20. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik, Aachen, Germany, 01 Apr 2009-03 Apr 2009. Backx, L., Fryns, J-P., Marcelis, C., Devriendt, K., Vermeesch, J., Van Esch, H. (2009). Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. In: European Journal of Human Genetics: vol. 17, (Abstract No. P03.164). Presented at the European Human Genetics Conference 2009 (ESHG), Vienna, Austria, 23 May 2009-26 May 2009. Barber, J., Huang, S., Ledbetter, D., Martin, C., Aradhya, S., Knight, S., Smith, K., Kok, K., Vermeesch, J., Crolla, J. (2009). An International Standardised Cytogenomic Array (ISCA) Consortium approach to the design, validation, implementation and reporting of constitutional oligo arraCGH. In: Chromosome Research: vol. 17. Presented at the 7th European cytogenetics Conference, Stockholm, Sweden, 04 Jul 2009-07 Jul 2009. Chabchoub, E., Michils, G., Vermeesch, J., De Cock, P., Fryns, J-P. (2009). A de novo 305 kb interstitial dup(3)(p25.3) encompassing the VHL and IRAK2 genes in a patient with mental retardation/ multiple congenital anomalies, epilepsy, spasticity and ectomorphic habitus. In: European Journal of Human Genetics: vol. 17, (Abstract No. P03.085). Presented at the European Human Genetics Conference 2009 (ESHG), Vienna, Austria, 23 May 2009-26 May 2009. van Bon, B., Mefford, H., Menten, B., Sharp, A., Innis, J., van Ravenswaaij, C., de Leeuw, N., Kurg, A., Willatt, L., Knight, S., Vermeesch, J., Romano, C., Barber JC, , Mortier, G., Pérez-Jurado, L., Kooy, F., Brunner, H., Eichler, E., Kleefstra, T., de Vries, B., Collaborative 15q13.3 Study Group, (2009). Further delineation of the 15q13.3 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome. In: European Journal of Human Genetics: vol. 17, (Abstract No. C02.2). Presented at the European Human Genetics Conference 2009 (ESHG), Vienna, Austria, 23 May 2009-26 May 2009. Balikova, I., de Ravel, T., Ayuso, C., Villaverde, C., Devriendt, K., Fryns, J-P., Vermeesch, J. (2009). An updated map of the genomic copy number variants in patients with congenital eye malformations. In: European Journal of Human Genetics: vol. 17, (Abstract No. P03.017). Presented at the European Human Genetics Conference 2009 (ESHG), Vienna, Austria, 23 May 2009-26 May 2009. Dimitriadou, E., Theodoropoulos, K., Lalou, I., Tzoufi, M., Vermeesch, J., Fryns, J-P., Kitsiou, S., Syrrou, M. (2009). Interstitial DE NOVO del(1)(q25.1q31.3): clinical presentation and molecular description with array-CGH. In: European Journal of Human Genetics: vol. 17, (Abstract No. P03.085). Presented at the European Human Genetics Conference 2009 (ESHG), Vienna, Austria, 23 May 2009-26 May 2009. Brady, P., Sohier, N., Boogaerts, A., Melotte, C., Fryns, J-P., Vermeesch, J. (2009). Comparison of 1 Mb BAC array and 105K oligo array in a clinical diagnostic setting. In: European Journal of Human Genetics: vol. 17, (Abstract No. P03.101). Presented at the European Human Genetics Conference 2009 (ESHG), Vienna, Austria, 23 May 2009-26 May 2009. Chabchoub, E., Cogulu, O., Durmaz, B., Vermeesch, J., Fryns, J-P. (2009). A de novo interstitial del(3q) identified by array comparative genomic hybridization (aCGH) in a patient with Oculocerebral Hypopigmentation Syndrome. (Abstract No. P14). Presented at the Belgian Society of Human Genetics, 9th Annual Meeting, Brussels, 13 Feb 2009-13 Feb 2009. Hannes, F., Hammond, P., Quarrell, O., Fryns, J-P., Devriendt, K., Vermeesch, J. (2009). An atypical familial 4p16.3 deletion associated with mild Wolf-Hirschhorn syndrome features. (Abstract No. P37), (64-64). Presented at the Belgian Society of Human Genetics, 9th Annual Meeting, Brussels, 13 Feb 2009-13 Feb 2009. Thienpont, B., Breckpot, J., Balikova, I., Gewillig, M., Vermeesch, J., Devriendt, K. (2009). High resolution aCGH screening of patients with syndromic congenital heart defects. (Abstract No. P62). Presented at the Belgian Society of Human Genetics, 9th Annual Meeting, Brussels, 13 Feb 2009-13 Feb 2009. Vanhevel, I., Matthijs, G., Vermeesch, J. (2009). Detection of Low-Level Mosaicisms using Array CGH. (Abstract No. P68). Presented at the Belgian Society of Human Genetics, 9th Annual Meeting, Brussels, Belgium, 13 Feb 2009-13 Feb 2009. Peeters, H., Vermeesch, J., Fryns, J-P. (2009). A de novo/microdeletion Xp22.2 in a female patient with a mild presentation of Opitz G/BBB syndrome. In: Genetic Counseling: vol. 20 (1), (117-117). Presented at the 19th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 04 Sep 2008-05 Sep 2008. Dimitrov, B., Peeters, H., Vermeesch, J., Fryns, J-P. (2009). A dysmorphic patient with the novo interstitial 3q23-q25.31 deletion delineated by Microarray- CGH. In: Genetic Counseling: vol. 20 (1), (109-109). Presented at the 19th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 04 Sep 2008-05 Sep 2008. Balikova, I., de Ravel de l'Argentière, T., Vermeesch, J., Fryns, J-P. (2009). Deletion in COH1 as a cause of Cohen syndrome. In: Genetic Counseling: vol. 20 (1), (77-77). Presented at the 19th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 04 Sep 2008-05 Sep 2008. Dimitrov, B., Peeters, H., Vermeesch, J., Fryns, J-P. (2009). Congenital Aural Atresia-Narrowing the Critical 18q22.3-23 locus. In: Genetic Counseling: vol. 20. Presented at the 19th European Meeting on Dysmorphology, Strasbourg, France, 04 Sep 2008-05 Sep 2008. Brady, P., Deprest, J., Fryns, J-P., Vermeesch, J. (2009). The use of array comparative genomic hybridisation (aCGH) for the detection of genomic imbalances in patients with CDH. Presented at the CDH Euro-Consortium – Advances in Congenital Diaphragmatic Hernia., Mannheim, Germany, 29 Oct 2009-30 Oct 2009. Balikova, I., Träskelin, A-L., de Ravel, T., Thienpont, B., Chandler, K., Clayton-Smith, J., Lehesjoki, A-E., Fryns, J-P., Vermeesch, J. (2009). Deletions in the COH1 gene as a cause of Cohen syndrome. (Abstract No. P5). Presented at the Belgian Society of Human Genetics, 9th Annual Meeting, Brussels, 13 Feb 2009-13 Feb 2009. Stoeva, R., Grozdanova, L., Vermeesch, J., Kirchhoff, M., Fryns, J-P., Ivanov, I., Patcheva, I., Dimitrov, B., Krastev, T., Linev, A., Stefanova, M. (2009). Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations. (Abstract No. P56). Presented at the Belgian Society of Human Genetics, 9th Annual Meeting, Brussels, 13 Feb 2009-13 Feb 2009. Grisart, B., Destrée, A., Fryns, J-P., Rack, K., de Ravel, T., Rosenfeld, J., Sandford, R., Vermeesch, J., Willatt, L., Verellen-Dumoulin, C. (2009). 17q21.31 microduplication patients are characterized by behavioural problems and poor social integration. (Abstract No. P33). Presented at the Belgian Society of Human Genetics, 9th Annual Meeting, Brussels, 13 Feb 2009-13 Feb 2009. de Ravel, T., Swillen, A., Willekens, D., Descheemaeker, M-J., Govers, V., Borghgraef, M., Vermeesch, J., Fryns, J-P. (2008). Molecular karyotyping is important in determining the cause of behavioural phenotypes. In: Journal of intellectual disability research: vol. 52, (813-813). Presented at the Society for the Study of Behavioural Phenotypes. 21st Annual Meeting, Cologne, Germany, 08 Oct 2008-10 Oct 2008. doi: 10.1111/j.1365-2788.2008.01119_6.x Chuah, M., Eyayu, B., Mates, L., Matrai, J., Acosta-Sanchez, A., Bing, Y., Samara-Kuko, E., Vermeesch, J., Mathieu, C., Ivics, Z., Iszvak, Z., Vandendriessche, T. (2008). Novel enhanced transposases result in robust stable gene transfer into hematopoietic, mesenchymal and muscle progenitor/stem cells. In: Human gene therapy: vol. 19 (10), (1071-1071). Presented at the Annual Meeting of the European Society of Gene & Cell Therapy, Belgium, 13 Nov 2008-16 Nov 2008. Froyen, G., Bauters, M., Frints, S.G., Vermeesch, J., Devriendt, K., Fryns, J-P., Marynen, P. (2008). Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: Important role for increased gene dosage of XLMR genes. In: Cellular oncology: vol. 30 (3), (256-257). Presented at the . 2nd MC-GARD Meeting, Madrid, Spain, 04 May 2008-07 May 2008. de Ravel, T., Swillen, A., Willekens, D., Descheemaeker, M., Govers, V., Borghgraef, M., Vermeesch, J., Fryns, J-P. (2008). Molecular karyotyping is important in determining the cause of behavioural phenotypes. Sleep, eating and other disorders associated with Behavioural Phenotypes: Genetic factors and implications for treatment. In: Journal of Intellectual Disability Research: vol. 52 (10). Presented at the Society for the Study of Behavioural Phenotypes. 21st Annual Meeting, Cologne, Germany, 08 Oct 2008-10 Oct 2008. Coessens, B., Van Vooren, S., De Moor, B., Moreau, Y., Vermeesch, J. (2008). Array comparative genomic hydridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes. In: European Journal of Human Genetics: vol. 16, (Abstract No. P02.036). Presented at the European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Barcelona, Spain, 31 May 2008-03 Jun 2008. Van Vooren, S., Coessens, B., Vermeesch, J., Moreau, Y. (2008). Information management for constitutional cytogenetics: tools for ArrayCGH in a clinical diagnostic context. In: European Journal of Human Genetics: vol. 16, (Abstract No. C04.6). Presented at the European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Barcelona, Spain, 31 May 2008-03 Jun 2008. Van Vooren, S., Coessens, B., Vermeesch, J., Moreau, Y. (2008). Bench and Array-CGH: information modeling for constitutional cytogenetics. (Abstract No. P41), (80-80). Presented at the Belgian Society of Human Genetics, 8th Annual Meeting, Leuven, 25 Apr 2008-25 Apr 2008. Vanneste, E., Voet, T., Ampe, M., Konings, P., Le Caignec, C., Melotte, C., Debrock, S., Schuit, F., Fryns, J-P., Moreau, Y., Verbeke, G., D'Hooghe, T., Vermeesch, J. (2008). High resolution screening of blastomeres from human embryos. (Abstract No. P57). Presented at the Belgian Society of Human Genetics, 8th Annual Meeting, Leuven, 25 Apr 2008-25 Apr 2008. Voet, T., Vanneste, E., Ampe, M., Konings, P., Le Caignec, C., Melotte, C., Debrock, S., Schuit, F., Moreau, Y., Verbeke, G., Fryns, J-P., D'Hooghe, T., Vermeesch, J. (2008). Chromosomal rearrangements arise at high frequency during early human embryogenesis. (Abstract No. T18). Presented at the Genomic Disorders 2008,, Hinxton, UK, 17 Mar 2008-20 Mar 2008. Vanneste, E., Voet, T., Ampe, M., Konings, P., Le Caignec, C., Melotte, C., Debrock, S., Schuit, F., Moreau, Y., Verbeke, G., Fryns, J-P., D'Hooghe, T., Vermeesch, J. (2008). High incidence of chromosomal rearrangement sin human pre-implantation embryos of young couples. In: Human Reproduction: vol. 23, (Abstract No. O-167). Presented at the . 24th ESHRE meeting – Forum arena – European Society for Human Reproduction and Embryology, Barcelona, Spain, 07 Jul 2008-09 Jul 2008. Balikova, I., de Ravel, T., Fryns, J-P., Devriendt, K., Vermeesch, J. (2008). High resolution Agilent 244K oligoarray CGH analysis for screening of patients with congenital eye malformations. In: European Journal of Human Genetics: vol. 16, (Abstract No. P02/019). Presented at the European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Barcelona, Spain, 31 May 2008-03 Jun 2008. Trifonov, V., Mraasek, K., Kosyakova, N., Mackie, O., Vermeesch, J., Rubtsov, N., Liehr, T. (2008). Small supernumerary marker chromosome (sSMC) in humans – are there B chromosomes hidden among them? In: Medizinische Genetik: vol. 20 (1). Presented at the 19. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik, Hannover, Germany, 08 Apr 2008-10 Apr 2008. Chabchoub, E., Vermeesch, J., de Ravel, T., De Cock, P., Fryns, J-P. (2008). The facial dysmorphy in the newly recognized microdeletion 2p15-p16.2 refined to a 570 kb region in 2p15. In: European Journal of Human Genetics: vol. 16, (Abstract No. P02.131). Presented at the European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Barcelona, Spain, 31 May 2008-03 Jun 2008. Dimitrov, B., de Ravel, T., de Die-Smulders, C., Toutain, A., Vermeesch, J., Rubtsov, N., Liehr, T. (2008). Distal limb deficiency, micrognathia syndrome (OMIM 246560) and syndromic forms of split hand foot malformation (SHFM) re caused by chromosome 10q genomic rearrangements. In: European Journal of Human Genetics: vol. 16, (Abstract No. C11.5). Presented at the European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Barcelona, Spain, 31 May 2008-03 Jun 2008. Ghassibe, M., Desmyter, L., Claes, F., Boute, O., Bayet, B., Pellerin, P., Backx, L., Hermans, K., Broiullard, P., Revencu, N., Vanwijck, R., Vermeesch, J., Poirel, H., Carmeliet, P., Vikkula, M. (2008). Fas-associated factor-1, a protein involved in apoptosis, causes cleft lip and palate. In: European Journal of Human Genetics: vol. 16, (Abstract No. C02.1). Presented at the European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Barcelona, Spain, 31 May 2008-03 Jun 2008. Crepel, A., Peeters, H., Vermeesch, J., Steyaert, J., Walleghem, D., Devriendt, K. (2008). CADHERIN-11 as a possible candidate gene for autism. In: European Journal of Human Genetics: vol. 16, (Abstract No. P01.247). Presented at the European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Barcelona, Spain, 31 May 2008-03 Jun 2008. Hannes, F., Poot, M., Fryns, J-P., Devriendt, K., Vermeesch, J. (2008). Expression profiling of 4p terminal deletions suggest that telomere position effects may contribute to disease phenotypes. In: Cellular Oncology: vol. 30 (3). Presented at the 2nd MC-GARD Meeting, Madrid, Spain, 04 May 2008-07 May 2008. Mefford, H., Sharp, A., Conrad, B., Walsh, T., Antonarakis, S., Chen, C., Gimelli, S., Schwartz, S., Sutclifffe, J., Knight, S., Sebat, J., Romano, C., Schwartz, C., Veltman, J., De Vries, B., Vermeesch, J., Barber, J., Willatt, L., Tassabehji, M., Eichler, E. (2008). Recurrent 1q21.1 microdeletions associated with variable disease phenotypes. Presented at the The American Society of Human Genetics 58th Annual Meeting, Philadelphia, Pennsylvania, USA, 11 Nov 2008-15 Nov 2008. Ghassibe, M., Desmyter, L., Claes, F., Boute, O., Bayet, B., Pellerin, P., Backx, L., Hermans, K., Brouillard, P., Revencu, N., Vanwijck, R., Vermeesch, J., Poirel, H., Carmeliet, P., Vikkula, M. (2008). Fas-associated factor-1, a protein involved in apoptosis, causes cleft lip and palate. (Abstract No. O1). Presented at the Belgian Society of Human Genetics, 8th Annual Meeting, Leuven, 25 Apr 2008-25 Apr 2008. Thienpont, B., Breckpot, J., Gewillig, M., Vermeesch, J., Devriendt, K. (2008). Complex intrachromosomal rearrangements. (Abstract No. P13). Presented at the Belgian Society of Human Genetics, 8th Annual Meeting, Leuven, 25 Apr 2008-25 Apr 2008. Chabchoub, E., Vermeesch, J., de Ravel, T., De Cock, P., Fryns, J-P. (2008). The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15. (Abstract No. P39), (78-78). Presented at the Belgian Society of Human Genetics, 8th Annual Meeting, Leuven, 25 Apr 2008-25 Apr 2008. Balikova, I., de Ravel, T., Devriendt, K., Fryns, J-P., Vermeesch, J. (2008). High resolution Agilent 244K oligoarray CGH analysis for screening of patients with congenital eye malformations. (Abstract No. P56), (99-99). Presented at the Belgian Society of Human Genetics, 8th Annual Meeting, Leuven, 25 Apr 2008-25 Apr 2008. Crepel, A., Peeters, H., Vermeesch, J., Steyaert, J., Walleghem, D., Devriendt, K. (2008). CADHERIN-11 as a possible candidate gene for autism. (Abstract No. P31). Presented at the Belgian Society of Human Genetics, 8th Annual Meeting, Leuven, 25 Apr 2008-25 Apr 2008. Hannes, F., Poot, M., Devriendt, K., Fryns, J-P., Vermeesch, J. (2008). Expression profiling of 4p terminal deletions suggest that telomere position effects may contribute to disease phenotypes. (Abstract No. P62), (105-105). Presented at the Belgian Society of Human Genetics, 8th Annual Meeting, Leuven, 25 Apr 2008-25 Apr 2008. Voet, T., Vanneste, E., Dimitrov, B., Jackmaert, S., Van Esch, H., Devriendt, K., Vermeesch, J. (2008). Genome-wide SNP calling and detection of submicroscopic imbalances using 250K SNP arrays. (Abstract No. P73). Presented at the Belgian Society of Human Genetics, 8th Annual Meeting, Leuven, 25 Apr 2008-25 Apr 2008. Peeters, H., Crepel, A., Devriendt, K., De Cock, P., Vermeesch, J., Fryns, J-P. (2008). A submicroscopic 5q11.2 deletion in a child with autism, mild mental retardation and mild facial dysmorphism. (Abstract No. P79), (124-124). Presented at the Belgian Society of Human Genetics, 8th Annual Meeting, Leuven, 25 Apr 2008-25 Apr 2008. Stoeva, R., Grozdanova, L., Fryns, J-P., Vermeesch, J., Ivanov, I., Patcheva, I., Stoev, I., Dimitrov, B., Thoelen, R., Krastev, T., Stefanova, M. (2008). Array-CGH diagnosis of cryptic chromosome aberrations. In: European Journal of Human Genetics: vol. 16, (Abstract No. P02.036). Presented at the European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Barcelona, Spanje, 31 May 2008-03 Jun 2008. Balikova, I., Vogels, A., Bradinova, I., de Ravel, T., Dimitrov, B., Vermeesch, J., Fryns, J-P. (2008). Autism and mental retardation are the main features of the 22q13 microdeletion syndrome. In: Genetic Counseling: vol. 19 (1). Presented at the 18th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 06 Sep 2007-07 Sep 2007. de Ravel, T., Hannes, F., Devriendt, K., Vogels, A., Sharp, A., Fryns, J-P., Vermeesch, J. (2008). Interpretation of array cgh recurrent micro-deletions/duplications: 16p13.11 as example. In: Genetic Counseling: vol. 19 (1). Presented at the 18th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 06 Sep 2007-07 Sep 2007. Chabchoub, E., Pijkels, E., Olivie, H., Vermeesch, J., De Cock, P., Fryns, J-P. (2008). A novel microduplication detected by array-cgh in a familial epilepsy associated with hypotonia, mental retardation and behavior disorders. In: Genetic Counseling: vol. 19 (1). Presented at the 18th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 06 Sep 2007-07 Sep 2007. Lukusa-Tshilobo, P., Hoedemaekers, G., Vermeesch, J., Fryns, J-P. (2008). Unusual physical presentation in an infant with ring chromosome 18. In: Genetic Counseling: vol. 19 (1). Presented at the 18th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 06 Sep 2007-07 Sep 2007. Lukusa-Tshilobo, P., Breckpot, J., Fryns, J-P., Vermeesch, J., Devriendt, K. (2008). Microduplication 22q11.2: à propos de quatre familles. In: Médecine Sciences: vol. 24. Presented at the 4èmes Assises de Génétique Humaine et Médicale, Lille, France, 01 Jan 2008-01 Jan 2008. Rayen, I., Toorman, J., Pelleboer, R., Brooks, A., Vermeesch, J., Fryns, J-P., Schrander-Stumpel, C. (2008). A girl with a cleft palate, Morbus Hirschsprung, and mental retardation caused by a deletion at 19q13.43. In: Genetic Counseling: vol. 19 (1), (138-139). Presented at the 18th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 06 Sep 2007-07 Sep 2007. Peeters, H., Vermeesch, J., Fryns, J-P. (2008). A cryptic duplication of the distal segment of 22q in a patient with mental retardation, microcephaly and mild facial dysmorphism. In: Genetic Counseling: vol. 19 (1). Presented at the 18th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 06 Sep 2007-07 Sep 2007. Crepel, A., Peeters, H., Vermeesch, J., Steyaert, J., Walleghem, D., Devriendt, K. (2008). CADHERIN-11 as a possible candidate gene for autism. In: Proceedings, (Abstract No. 19 105.13). Presented at the 7th Annual International Meeting for Autism Research 2008, London, U.K.,, 15 May 2008-17 May 2008. Vermeesch, J. (2008). Microarrays: their methodology and application for PGD and PGS. In: Human Reproduction: vol. 23, (Abstract No. O-128). Presented at the 24th ESHRE meeting – Forum arena – European Society for Human Reproduction and Embryology, Barcelona, Spain, 07 Jul 2008-09 Jul 2008. Peeters, H., Crepel, A., Devriendt, K., De Cock, P., Vermeesch, J., Fryns, J-P. (2008). A submicroscopic 5q11.2 deletion in a child with autism, mild mental retardation and mild facial dysmorphism. In: Proceedings, (Abstract No. 41 124.9). Presented at the 7th Annual International Meeting for Autism Research 2008, London, U.K., 15 May 2008-17 May 2008. Balikova, I., de Ravel de l'Argentière, T., Fryns, J-P., Vermeesch, J. (2008). Microdeletions in the COH1 gene as a cause of Cohen syndrome. In: Proceedings. Presented at the 13th Manchester Dysmorphology Conference, Manchester, U.K., 28 Oct 2008-31 Oct 2008. Kleefstra, T., Van Bon, B., Melford, H., Menten, B., Koolen, D., Sharp, A., Nillesen, W., Innis, J., de Ravel de l'Argentière, T., Mercer, C., Foulds, N., Fichera, M., Stewart, H., Connell, L., Ounap, K., van Ravenswaaij, C., Van Kalmthout, M., De Leeuw, N., Bongers, E., Fryns, J-P., Janssens, S., Smith, K., Parkel, S., Castle, B., Loeys, C., Woods, C., Oosra, A., Speleman, F., Kurg, A., Willat, L., Knight, S., Vermeesch, J., Mortier, G., Barber, J., Romano, C., Brunner, H., Eichler, E., De Vries, B. (2008). Further delineation of the 15q13 micro-deletion and duplication syndrome: a clinical spectrum varying from non-pathogenic to a severe outcome. In: Proceedings. Presented at the 13th Manchester Dysmorphology Conference, Manchester, U.K., 28 Oct 2008-31 Oct 2008. Balikova, I., de Ravel de l'Argentière, T., Fryns, J-P., Vermeesch, J. (2008). Deletions in COH1 as a cause of Cohen syndrome. In: Proceedings, (Abstract No. T09). Presented at the 34th Annual Meeting of the European Paediatric Ophthalmological Society, Leuven, Belgium, 23 Oct 2008-25 Oct 2008. Hannes, F., Hammond, P., Quarrell, Q., Swinnen, L., Vermeesch, J., Devriendt, K. (2008). An atypical familial 4p16.3 deletion associated with mild Wolf-Hirschhorn syndrome 3D facial shap analysis. In: Proceedings. Presented at the 13th Manchester Dysmorphology Conference, Manchester, U.K., 28 Oct 2008-31 Oct 2008. Ghassibé, M., Desmyter, L., Boute, O., Bayet, B., Pellering, P., Revencu, N., Poirel, H., Vermeesch, J., Backx, L., Vanwijck, R., Vikkula, M. (2008). FAF1 a new gene for Cleft Palate and Pierre-Robin sequence. In: Proceedings. Presented at the 13th Manchester Dysmorphology Conference, Manchester, U.K., 28 Oct 2008-31 Oct 2008. Peeters, H., Crepel, A., Devriendt, K., De Cock, P., Vermeesch, J., Fryns, J-P. (2008). A submicroscopic 5q11.2 deletion in a girl with autism, mild. In: European Journal of Human Genetics: vol. 16, (Abstract No. P02.092). Presented at the European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Barcelona, Spain, 31 May 2008-03 Jun 2008. Van Esch, H., Ceulemans, B., Vermeesch, J., Devriendt, K., Backx, L. (2008). Early myoclonic encephalopathy caused by a disruption of the Neuregulin-1 receptor ErbB4. In: European Journal of Human Genetics: vol. 16, (Abstract No. P05.037). Presented at the European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Barcelona, Spain, 31 May 2008-03 Jun 2008. Peeters, H., Crepel, A., Devriendt, K., De Cock, P., Vermeesch, J., Fryns, J-P. (2008). A submicroscopic 5q11.2 deletion in a girl with autism, mild mental retardation and mild facial dysmorphism. In: European Journal of Human Genetics: vol. 16, (Abstract No. P02.092). Presented at the European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Barcelona, Spain, 31 May 2008-03 Jun 2008. Melo, J., Matoso, E., Lima, M., Backx, L., Vermeesch, J., Kosyakova, N., Liehr, T., Carreira, I. (2008). Molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 11 in a mother and a child with distinct phenotypes. In: European Journal of Human Genetics: vol. 16, (Abstract No. P02.197). Presented at the European Human Genetics Conference 2008 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Barcelona, Spain, 31 May 2008-03 Jun 2008. Debrock, S., Melotte, C., Vermeesch, J., Spiessens, C., Vanneste, E., D'Hooghe, T.M. (2007). Preimplantation genetic screening (PGS) for aneuploidy in embryos after in vitro fertilization (IVF) does not improve reproductive outcome in women over 35: A prospective controlled randomized study. In: Fertility and sterility: vol. 88. Presented at the 63rd Annual Meeting of the American-Society-for-Reproductive-Medicine, Washington, DC, USA, 13 Oct 2007-17 Oct 2007. Pospisilova, H., Baens, T., Michaux, L., Stul, M., Van Hummelen, P., Van Loo, P., Vermeesch, J., Jarosova, M., Zemanova, Z., Michalova, K., Van den Berghe, I., Alexander, H.D., Maes, B., Franke, S., Hagemeijer-Hausman, A., Vandenberghe, P., Cools, J., De Wolf-Peeters, C., Marynen, P., Wlodarska, I. (2007). Interstitial del(14)(Q) involving IGH are recurrent in MM. In: Haematologica, (101-101). Presented at the EHA, Vienna. Petrov, V., van Pelt, J., Vermeesch, J., Van Duppen, V., Lijnen, P., Fagard, R. (2007). Transforming growth factor beta 1-induced cardiac myofibroblasts are terminally differentiated, tunel-positive cells with high functional performance. In: Journal of Hypertension: vol. 25. Voet, T., Weuts, A., Verbeeck, J., Lambrechts, N., Danloy, S., Schoonjans, L., Vermeesch, J., Marynen, P. (2007). Use of a chromosomal vector for the study of gene dosage effects in mice and functional elements that underpin chromosome stability. Presented at the International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism, Troina - Sicily, 13 Apr 2007-14 Apr 2007. Vanneste, E., Le Caignec, C., Melotte, C., Debrock, S., Fryns, J-P., D'Hooghe, T., Vermeesch, J. (2007). Aneuploidy and aneusomy detection in human embryos by array CGH. In: Human Reproduction: vol. 22. Presented at the ESHRE meeting, Lyon, France, 02 Jul 2007-04 Jul 2007. Van Buggenhout, G., Avonds, W., Wolfs, I., Beusen, L., Vermeesch, J., Fryns, J-P. (2007). Chromosome aberrations in ageing mentally retarded persons: a challenge for the clinician. In: Chromosome Research: vol. 15, (2-3). Presented at the 6th European Cytogenetics Conference, Istanbul, Turkey, 07 Jul 2007-10 Jul 2007. Pospisilova, H., Baens, T., Michaux, L., Van Loo, P., Stul, M., Van Hummelen, P., Vermeesch, J., Jarosova, M., Zemanova, Z., Michalova, K., Van den Berghe, I., Alexander, H.D., Hagemeijer-Hausman, A., Vandenberghe, P., Cools, J., Peeters, C., Marynen, P., Wlodarska, I. (2007). ArrayCGH indentified interstitial del(14)(q) involving IGH, a novel recurrent aberration in B-NHL. In: Cellular oncology: vol. 29 (2), (156-157). Presented at the 1st Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD), Amsterdam, NETHERLANDS, 03 May 2007-05 May 2007. Van Vooren, S., Coessens, B., Thienpont, B., Vermeesch, J., De Moor, B., Moreau, Y. (2007). Literature mining for constitutional cytogenetics. In: Chromosome research: vol. 15, (22-22). Presented at the 6th European Cytogenetics Conference, Istanbul, Turkey, 07 Jul 2007-10 Jul 2007. Quellhorst-Pawley, B., Howell, R., Bartsch, O., Dastugue, N., Doco-Fenzy, M., Faas, B., Floridia, G., Held, K., Ramos, C., de Alba, M.R., Simola, K., Sole-Ristol, F., Taruscio, D., Vermeesch, J., Hastings, R. (2007). EQA in Europe. In: Chromosome research: vol. 15, (159-160). Presented at the 6th European Cytogenetics Conference, , Istanbul, Turkey, 07 Jul 2007-10 Jul 2007. Balikova, I., Martens, K., Melotte, C., Van Vooren, S., Moreau, Y., Starke, H., Vetrie, D., Fiegler, H., Carter, N., Liehr, T., Matthijs, G., Fryns, J-P., Casteels, I., Devriendt, K., Vermeesch, J. (2007). Familial inherited microtia caused by a benign CNV amplification at chromosome 4pter. (Abstract No. O10). Presented at the Belgian Society of Human Genetics (BeSHG) Seventh Annual Meeting: “Muscle, Brain and Sex”, Charleroi, Belgium, 20 Apr 2007-20 Apr 2007. Melotte, C., Debrock, S., Vanneste, E., D'Hooghe, T., Crolla, J., de Ravel, T., Legius, E., Fryns, J-P., Vermeesch, J. (2007). Preimplantation genetic diagnosis for microdeletions using FISH. In: Chromosome research: vol. 15, (237-238). Presented at the 6th European Cytogenetics Conference, Istanbul, Turkey, 07 Jul 2007-10 Jul 2007. Vanneste, E., Le Caignec, C., Melotte, C., Debrock, S., Fryns, J-P., D'Hooghe, T., Vermeesch, J. (2007). Aneuploidy and aneusomy detection in human embryos by array CGH. In: Chromosome research: vol. 15, (231-232). Presented at the 6th European Cytogenetics Conference, Istanbul, Turkey, 07 Jul 2007-10 Jul 2007. Bauters, M., Froyen, G., Van Esch, H., Nevelsteen, J., Frints, S., Vermeesch, J., Devriendt, K., Fryns, J-P., Marynen, P. (2007). Detection of genomic copy number changes in patients with idiopathic mental retardation by highresolution X-array-CGH: frequent increased gene dosage of known .xlmr genes. In: Cellular Oncology: vol. 29 (2). Presented at the 1st Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD), VU Univ Med Ctr, Amsterdam, Netherlands, 03 May 2007-05 May 2007. Van Vooren, S., Vermeesch, J., De Moor, B., Moreau, Y. (2007). Literature mining for constitutional cytogenetics. In: Cellular Oncology: vol. 29 (2), (166-166). Presented at the 1st Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD), VU Univ Med Ctr, Amsterdam, Netherlands, 03 May 2007-05 May 2007. Allemeersch, J., Van Vooren, S., Hannes, F., Vermeesch, J., Moreau, Y. (2007). An experimental loop design improves the detection of constitutional chromosomal aberrations by array CGH. In: Cellular Oncology: vol. 29 (2). Presented at the 1st Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD), VU Univ Med Ctr, Amsterdam, Netherlands, 03 May 2007-05 May 2007. de Ravel, T., Ruivenkamp, C., Breuning, M., Fryns, J-P., Devriendt, K., Vermeesch, J., Hannes, F. (2007). A novel genomic disorder at 16p13.11: where is the syndrome? In: Cellular Oncology: vol. 29 (2), (138-139). Presented at the 1st Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD), VU Univ Med Ctr, Amsterdam, Netherlands, 03 May 2007-05 May 2007. Vermeesch, J., Backs, L., De Gregori, M., Ciccone, R., Magini, P., Cifuentes, F., Pramparo, T., Gimelli, S., Messa, J., Novara, F., Vetro, A., Maraschio, P., Bonaglia, M.C., Anichini, C., Ferrero, G.B., Silengo, M., Fazzi, E., Zatterale, A., Fischetto, R., Previdere, C., Belli, S., Turci, A., Calabrese, G., Bernardi, F., Meneghelli, E., Riegel, M., Rocchi, M., Guerneri, S., Lalatta, F., Romano, C., Fichera, M., Mattina, T., Schinzel, A., Zuffardi, O. (2007). "Balanced" complex rearrangements: how many are really balanced? In: Chromosome research: vol. 15, (19-19). Presented at the 6th European Cytogenetics Conference, Istanbul, Turkey,, 07 Jul 2007-10 Jul 2007. Van Vooren, S., Vermeesch, J., De Moor, B., Moreau, Y. (2007). Literature mining for constitutional cytogenetics. (Abstract No. P14), (38-38). Presented at the Belgian Society of Human Genetics (BeSHG) Seventh Annual Meeting: “Muscle, Brain and Sex”, Charleroi, 20 Apr 2007-20 Apr 2007. Balikova, I., Martens, K., Melotte, C., Van Vooren, S., Moreau, Y., Starke, H., Vetrie, D., Fiegler, H., Carter, N., Liehr, T., Matthijs, G., Fryns, J-P., Casteels, I., Devriendt, K., Vermeesch, J. (2007). Familial inherited microtia caused by a benign CNV amplification at chromosome 4pter. In: European Journal of Human Genetics: vol. 15, (Abstract No. C32). Presented at the European Human Genetics Conference 2007, Nice, France, 16 Jan 2007-19 Jan 2007. Vermeesch, J., Maas, N., Van Vooren, S., Hannes, F., Van Buggenhout, G., Mysliwiec, M., Moreau, Y., Fagan, K., Midro, A., Engiz, O., Balci, S., Parker, M., Sznajer, Y., Devriendt, K., Fryns, J-P. (2007). 4p16 olfactory receptor gene cluster is a promiscuous hotspot for chromosomal rearrangements. Presented at the Genomic Disorders 2007, Wellcome Trust Conference Centre, Hinxton, UK, 21 Mar 2007-23 Mar 2007. de Ravel, T., Lukusa-Tshilobo, P., Devriendt, K., Van Buggenhout, G., Shaffer, L., Fryns, J-P., Vermeesch, J. (2007). The complex nature of monosomy 1p36. (Abstract No. P12). Presented at the Society of Human Genetics (BeSHG) Seventh Annual Meeting: “Muscle, Brain and Sex”, Charleroi, 20 Apr 2007-20 Apr 2007. Chabchoub, E., Rodriguez, L., Galan, E., Mansilla, E., Martinez-Fernandez, M., Martinez-Frias, M., Fryns, J-P., Vermeesch, J. (2007). Evidence for coincident telomere capture and neo-telomere formation in the healing of constitutional chromosome imbalances. (Abstract No. P36), (59-59). Presented at the Belgian Society of Human Genetics (BeSHG) Seventh Annual Meeting: “Muscle, Brain and Sex”, Charleroi, 20 Apr 2007-20 Apr 2007. Vanneste, E., Le Caignec, C., Melotte, C., Debrock, S., Fryns, J-P., D'Hooghe, T., Vermeesch, J. (2007). Aneuploidy and aneusomy detection in human embryos by array CGH. (Abstract No. O5), (18-18). Presented at the Belgian Society of Human Genetics (BeSHG) Seventh Annual Meeting: “Muscle, Brain and Sex”, Charleroi, 20 Apr 2007-20 Apr 2007. Crepel, A., Voet, T., Vogels, A., Fryns, J-P., Vermeesch, J., Devriendt, K. (2007). Human-mouse somatic cell hybrids: a method to study positional effect on gene expression by chromosomal translocations. (Abstract No. P20). Presented at the Belgian Society of Human Genetics (BeSHG) Seventh Annual Meeting: “Muscle, Brain and Sex”, Charleroi, 20 Apr 2007-20 Apr 2007. Thienpont, B., de Ravel, T., Van Esch, H., Van Schoubroeck, D., Moerman, P., Vermeesch, J., Fryns, J-P., Froyen, G., Badens, C., Devriendt, K. (2007). Partial duplications of the ATRX-gene cause the ATR-X syndrome. (Abstract No. P13), (37-37). Presented at the Belgian Society of Human Genetics (BeSHG) Seventh Annual Meeting: “Muscle, Brain and Sex”, Charleroi, 20 Apr 2007-20 Apr 2007. Breckpot, J., Thienpont, B., Holvoet, M., Vermeesch, J., Devriendt, K. (2007). A microduplication of CBP i a patient with mental retardation and a congenital heart defect. (Abstract No. P19), (42-42). Presented at the Belgian Society of Human Genetics (BeSHG) Seventh Annual Meeting: “Muscle, Brain and Sex”, Charleroi, 20 Apr 2007-20 Apr 2007. Hannes, F., de Ravel, T., Ruivenkamp, C., Breuning, M., Fryns, J-P., Devriendt, K., Vermeesch, J. (2007). novel genomic disorder at 16p13.11: Where is the syndrome? (Abstract No. P21), (44-44). Presented at the Belgian Society of Human Genetics (BeSHG) Seventh Annual Meeting: “Muscle, Brain and Sex”, Charleroi, 20 Apr 2007-20 Apr 2007. Dimitrov, B., Balikova, I., Vermeesch, J., Bradinova, I., Simeonov, E., Fryns, J-P., Devriendt, K., Debeer, P. (2007). Microdeletion 2q3 redefining the correlated clinical phenotype. (Abstract No. P42), (65-65). Presented at the Belgian Society of Human Genetics (BeSHG) Seventh Annual Meeting: “Muscle, Brain and Sex”, Charleroi, 20 Apr 2007-20 Apr 2007. Ghassibe, M., Desmyter, L., Boutte, O., Bayket, B., Pellerin, P., Revencu, N., Poirel, H., Vermeesch, J., Backx, L., Vanwijck, R., Vikkula, M. (2007). FAF1 a new gene for Cleft Palate and Pierre Robin Sequence. In: Proceedings. Presented at the 57th Annual meeting of the American Society of Human Genetics, San Diego, USA, 23 Oct 2007-27 Oct 2007. Hastings, R., Barton, D., Berwouts, S., Brady, C., Corbisier, P., Corveleyn, A., Elles, R., Fowler, B., Gancberg, D., Litynski, P., Macek, M.J., Malburg, U., Matthijs, G., Morris, M., Mueller, C., Nagels, N., Quellhorst-Pwaley, B., Stambergova, A., Vermeesch, J., Vickers, K., Dequeker, E. (2007). Quality Management and accreditation of genetic testing services. In: European Journal of Human Genetics: vol. 15, (Abstract No. P1379). Presented at the European Human Genetics Conference 2007, Nice, France, 16 Jun 2007-19 Jun 2007. Liehr, T., Mrasek, K., Kosyakova, N., Vermeesch, J., Cheung, S., Weise A, (2007). A genotype-phenotype correlation of small supernumerary marker chromosomes. In: Proceedings. Presented at the 57th Annual meeting of the American Society of Human Genetics, San Diego, USA, 23 Oct 2007-27 Oct 2007. De Gregori, M., Ciccone, R., Cifuentes, F., Pramparo, T., Magini, P., Gimelli, J., Vermeesch, J., Messa, J., Novara, F., Maraschio, P., Bonaglia, M., Ferrero, G., Silengo, M., Zatterale, A., Belli, S., Ferlini, A., Calabrese, G., Mattina, T., Bernardi, F., Riege, M., Rocchi, M., Schinzel, A., Zuffardi, O. (2007). Multiple cryptic deletions are a common finding in “balanced” complex chromosome rearrangements: a study of seventeen cases. In: European Journal of Human Genetics: vol. 15, (Abstract No. C77). Presented at the European Human Genetics Conference 2007, Nice, France, 16 Jun 2007-19 Jun 2007. Froyen, G., Van Esch, H., Bauters, M., Frints, S., Vermeesch, J., Devriendt, K., Fryns, J-P., Marynen, P. (2007). Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: frequent increased gene dosage of known XLMR genes. In: European Journal of Human Genetics: vol. 15, (Abstract No. P0277). Presented at the European Human Genetics Conference 2007, Nice, France, 16 Jun 2007-19 Jun 2007. Chabchoub, E., de Ravel, T., Thoelen, R., Vermeesch, J., Fryns, J-P., Van Esch, H. (2007). A novel microdeletion detected by array-cgh in an infant with lissencephaly. In: Genetic Counseling: vol. 18 (1). Presented at the 17th European Meeting on Dysmorphology, , Le Bischenberg, Strasbourg, France, 14 Sep 2006-15 Sep 2006. Dimitrov, B., Hannes, F., Balikova, I., Vermeesch, J., de Ravel, T., Debeer, P., Fryns, J-P., Devriendt, K. (2007). Genetics of trigonocephaly. In: Genetic Counseling: vol. 18 (1). Presented at the 17th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 14 Sep 2006-15 Sep 2006. de Ravel, T., Hannes, F., Ruienkamp, C., Breuning, M., Fryns, J-P., Devriendt, K., Vermeesch, J. (2007). A novel genomic disorder at 16p13.11: Where is the syndrome? Presented at the Genomic Disorders 2007, Wellcome Trust Conference Centre, Hinxton, UK, 21 Mar 2007-23 Mar 2007. Chabchoub, E., Rodriguez, L., Galan, E., Mansilla, E., Martinez-Fernandez, M.L., Martinez-Frias, M.L., Fryns, J-P., Vermeesch, J. (2007). Molecular characterization of a mosaicism with a complex chromosome rearrangement: Evidence for coincident chromosome healing by telomere capture and neo-telomere formation. In: European Journal of Human Genetics: vol. 15, (Abstract No. P0412). Presented at the European Human Genetics Conference 2007, Nice, France, 16 Jun 2007-19 Jun 2007. Froyen, G., Van Esch, H., Bauters, M., Hollanders, K., Frints, S., Vermeesch, J., Thienpont, B., Devriendt, K., Fryns, J-P., Marynen, P. (2007). Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: frequent increased gene dosage of known XLMR genes. Presented at the Genomic Disorders 2007, Wellcome Trust Conference Centre, Hinxton, UK, 21 Mar 2007-23 Mar 2007. Crepel, A., Voet, T., Thienpont, B., Vogels, A., Fryns, J-P., Vermeesch, J., Devriendt, K. (2007). A study of candidate genes for dominant non-syndromic microcephaly in a family with inherited chromosomal translocations t(5q35.2;18q22.3). In: European Journal of Human Genetics: vol. 15, (Abstract No. P0179). Presented at the European Human Genetics Conference 2007, Nice, France, 16 Jun 2007-19 Jun 2007. Lukusa-Tshilobo, P., Van Buggenhout, G., de Ravel, T., Vermeesch, J., Devriendt, K., Fryns, J-P. (2007). Deletion 1p36: clinical findings in 6 patients and use of FISH and microarray technology to detect submicroscopic lesions. In: Genetic Counseling: vol. 18 (1). Presented at the 17th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 14 Sep 2006-15 Sep 2006. Thienpont, B., de Ravel, T., Van Esch, H., Van Schoubroeck, D., Moerman, P., Vermeesch, J., Fryns, J-P., Froyen, G., Badens, C., Devriendt, K. (2007). Partial duplications of the ATRX-gene cause the ATR-X syndrome. In: European Journal of Human Genetics: vol. 15, (Abstract No. P0028). Presented at the European Human Genetics Conference 2007, Nice, France, 16 Jun 2007-19 Jun 2007. Peeters, H., Vermeesch, J., Fryns, J-P. (2007). A duplication of the distal segment of 22q in a patient with mental retardation, microcephaly and mild facial dysmorphism. In: European Journal of Human Genetics: vol. 15, (Abstract No. P0282). Presented at the European Human Genetics Conference 2007, Nice, France, 16 Jun 2007-19 Jun 2007. Midro, A., Iwanowski, P., Panasiuk, B., Van Buggenhout, G., Myoeliwiec, M., Maas, N., Eggermann, T., Pilch, J., Korniszewski, L., Vermeesch, J., Fryns, J-P., Zollino, M. (2007). Simple and translation forms of monosomy 4p16.1↔ pter: quantitative syndrome definition and cytogenetic evaluation by FISH. In: Medizinische Genetik: vol. 19 (1), (Abstract No. P009). Presented at the 18. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik, 01 Jan 2007-01 Jan 2007. Pospisilova, H., Baens, M., Michaux, L., Stul, M., Van Hummelen, P., Van Loo, P., Vermeesch, J., Jarosova, M., Zemanova, Z., Michalova, K., Van den Berghe, I., Alexander, H., Hagemeijer-Hausman, A., Vandenberghe, P., Cools, J., Peeters, C., Marynen, P., Wlodarska, I. (2007). Interstitial del(14)(q) involving IGH: a novel recurrent aberration in B-NHL. In: Meeting proceedings. Presented at the CNIO Cancer Conferences (CCS): “Molecular mechanisms in lymphoid neoplasm", Madrid, Spain, 19 Feb 2007-21 Feb 2007. Backx, L., Van Esch, H., Melotte, C., Kosyakova, N., Fryns, J-P., Starke, H., Liehr, T., Vermeesch, J. (2007). Array painting using microdissected chromosomes to map chromosomal breakpoints. In: Chromosome research: vol. 15, (21-22). Presented at the 6th European Cytogenetics Conference, Istanbul, Turkey, 07 Jul 2007-10 Jul 2007. De Raedt, T., Stephens, M., Heins, I., Brems, H., Messiaen, L., Stephens, K., Wimmer, K., Kehrer-Sawatzki, H., Wolkenstein, P., Kluwe, L., Vermeesch, J., Marynen, P., Legius, E. (2007). Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Presented at the Genomic Disorders 2007, Wellcome Trust Conference Centre, Hinxton, UK, 21 Mar 2007-23 Mar 2007. Vermeesch, J. (2006). Bringing array CGH from the scientific into the diagnostic laboratory. In: Journal of medical genetics: vol. 43. Presented at the British Human Genetics Conference, York, ENGLAND, 18 Sep 2006-20 Sep 2006. Van Vooren, S., Vermeesch, J., De Moor, B., Moreau, Y. (2006). Literature mining for constitutional cytogenetics. (Abstract No. P54), (61-61). Presented at the Sixth Annual Meeting of the Belgian Society of Human Genetics, Antwerp, 17 Feb 2006-17 Feb 2006. Le Caignec, C., Spits, C., Sermon, K., De Rycke, M., Thienpont, B., Moreau, Y., Fryns, J-P., Van Steirteghem, A., Liebaers, I., Vermeesch, J. (2006). Détection d’aneuploidies à partir d’une cellule unique par la méthode de CGH array. In: Médecine Sciences: vol. 22, (Abstract No. P135/430). Presented at the 3èmes Assises de Génétique Humaine et Médicale, Le Corum-Montpellier, 26 Jan 2006-28 Jan 2006. Vermeesch, J., Maas, N., Thienpont, B., de Ravel, T., Balikova, I., Fryns, J-P., Devriendt, K., Moreau, Y., Menten, B., Speleman, F., Mortier, G., De Paepe, A. (2006). Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies. In: European Journal of Human Genetics: vol. 14, (Abstract No. P0382). Presented at the European Human Genetics Conference 2006 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Amsterdam, The Netherlands, 06 May 2006-09 May 2006. Le Caignec, C., Spits, C., Sermon, K., De Rycke, M., Thienpont, B., Moreau, Y., Fryns, J-P., Van Steirteghem, A., Liebaers, I., Vermeesch, J. (2006). Single cell chromosomal imbalances detection by array CGH. In: European Journal of Human Genetics: vol. 14, (Abstract No. C49). Presented at the European Human Genetics Conference 2006 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Amsterdam, The Netherlands, 06 May 2006-09 May 2006. Allemeersch, J., Van Vooren, S., Hannes, F., Vermeesch, J., Moreau, Y. (2006). A loop experiment design for the detection of chromosomal aberrations by array CGH. (Abstract No. P39). Presented at the Marie Curie Conferences and Training Courses on arrayCGh and Molecular Cytogenetics, Leuven, Belgium, 13 Sep 2006-16 Sep 2006. Van Vooren, S., Vermeesch, J., De Moor, B., Moreau, Y. (2006). Literature Mining for Constitutional Cytogenetics. (Abstract No. P39). Presented at the Marie Curie Conferences and Training Courses on arrayCGh and Molecular Cytogenetics, Leuven, Belgium, 13 Sep 2006-16 Sep 2006. Balikova, I., Vermeesch, J., Maas, N., Thienpont, B., Thoelen, R., Devriendt, K., Dimitrov, B., Fryns, J-P., de Ravel, T. (2006). Molecular karyotyping reveals 12% submicroscopic imbalances n a selected group of institutionalized patients with idiopathic mental retardation. (23-23). Presented at the Sixth Annual Meeting of the Belgian Society of Human Genetics, Antwerp, 17 Feb 2006-17 Feb 2006. Thienpont, B., Maas, N., Mertens, L., Eyskens, B., Bofhoff, D., Fryns, J-P., Gewillig, M., Vermeesch, J., Devriendt, K. (2006). Array-CGH a novel tool in genetic diagnosis of individuals with congenital heart defects. Presented at the Sixth Annual Meeting of the Belgian Society of Human Genetics, Antwerp, 17 Feb 2006-17 Feb 2006. Backx, L., Van Esch, H., Melotte, C., Kosyakova, N., Fryns, J-P., Liehr, T., Vermeesch, J. (2006). Array CGH using microdissected chromosomes to map chromosomal breakpoints. (18-18). Presented at the Sixth Annual Meeting of the Belgian Society of Human Genetics, Antwerp, 17 Feb 2006-17 Feb 2006. Chabchoub, E., Fryns, J-P., de Ravel, T., Thoelen, R., Vermeesch, J., Van Esch, H. (2006). Detection of an unusual 17p13/3 microdeletion by array-CGH in a patient with lessencephaly. (Abstract No. P16). Presented at the Sixth Annual Meeting of the Belgian Society of Human Genetics, Antwerp, 17 Feb 2006-17 Feb 2006. Castermans, D., Meulemans, S., Deckers, R., Vermeesch, J., Schrander-Stumpel, C., Fryns, J-P., Steyaert, J., Van de Ven, W., Creemers, J., Devriendt, K. (2006). Three novel candidate genes for autism are involved in regulated secretion: a possible role for neuron vesicle trafficking in the pathogenesis of autism. (Abstract No. P13). Presented at the Sixth Annual Meeting of the Belgian Society of Human Genetics, Antwerp, 17 Feb 2006-17 Feb 2006. Maas, N., Melotte, C., Van Buggenhout, G., Fryns, J-P., Vermeesch, J. (2006). The analysis of 4p chromosomal abnormalities using micro-array CGH; genotype-phenotype correlation. (Abstract No. P43), (47-47). Presented at the Sixth Annual Meeting of the Belgian Society of Human Genetics, Antwerp, 17 Feb 2006-17 Feb 2006. Lukusa-Tshilobo, P., Vermeesch, J., Fryns, J-P. (2006). De novo microdeletion 17q11.2 detected by using microarray technology in a female child with developmental delay and non syndromic dysmorphic features. In: Genetic Counseling: vol. 17 (1). Presented at the 16th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 08 Sep 2005-09 Sep 2005. Balikova, I., de Ravel, T., Le Caignec, C., Thienpont, B., Menten, B., Speleman, F., Devriendt, K., Fryns, J-P., Vermeesch, J. (2006). Subtelomeric imbalances in phenotypically normal individuals. In: European Journal of Human Genetics: vol. 14, (Abstract No. C69). Presented at the European Human Genetics Conference 2006 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Amsterdam, The Netherlands, 06 May 2006-09 May 2006. Balikova, I., Bradinova, I., Avdjieva, D., Stojanov, V., Simeonov, E., Zaharief, D., Vermeesch, J., Devriendt, K., Debeer, P., Fryns, J-P., Dimitrov, B. (2006). Widening the phenotype of WAGR syndrome and defining a new locus for preaxial polydactyly. In: Genetic Counseling: vol. 17 (1), (110-111). Presented at the 16th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 08 Sep 2005-09 Sep 2005. Van Buggenhout, G., Avonds, W., Wolfs, I., Beusen, L., Vermeesch, J., Fryns, J-P. (2006). A challenge for the clinician: recognition of syndromes in older institutionalised mentally retarded patients. In: Genetic Counseling: vol. 17 (1). Presented at the 16th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, 08 Sep 2005-09 Sep 2005. Thienpont, B., Mertens, L., Eyskens, B., Boshoff, D., Maas, N., de Ravel, T., Fryns, J-P., Gewillig, M., Vermeesch, J., Devriendt, K. (2006). Array-CGH: A novel tool in genetic diagnosis of individuals with congenital heart defects. In: European Journal of Human Genetics: vol. 14, (Abstract No. C65). Presented at the European Human Genetics Conference 2006 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Amsterdam, The Netherlands, 06 May 2006-09 May 2006. Zollino, M., Lecce, R., Orteschi, D., Marangi, G., Murdolo, M., Grimaldi, M., Fryns, J-P., Vermeesch, J., Neri, G. (2006). Cryptic chromosome anomalies in 43 out of 220 subjects with MCA/MR: suggested diagnostic strategy. In: European Journal of Human Genetics: vol. 14, (Abstract No. P0296). Presented at the European Human Genetics Conference 2006 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Amsterdam, The Netherlands, 06 May 2006-09 May 2006. Castermans, D., Freson, K., Vermeesch, J., Schrander-Stumpel, C., Fryns, J-P., Van de Ven, W., Van Geet, C., Steyaert, J., Creemers, J., Devriendt, K. (2006). Amisyn, SCAMP5, CLIKC4 and NBEA are candidate genes for autism and suggest a role for neuron vesicle trafficking in the pathogenesis of autism. In: European Journal of Human Genetics: vol. 14, (Abstract No. C16), (84-85). Presented at the European Human Genetics Conference 2006 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Amsterdam, The Netherlands, 06 May 2006-09 May 2006. Maas, N., Melotte, C., Van Buggenhout, G., Fryns, J-P., Vermeesch, J. (2006). The analysis of 4p chromosomal abnormalities using micro-array CGH; genotype-phenotype correlation. In: Genetic Counseling: vol. 17 (1). Presented at the 16th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 08 Sep 2005-09 Sep 2005. Peeters, H., Holvoet, M., Utine, G., Thoelen, R., Vermeesch, J., Fryns, J-P. (2006). Partial trisomy 11q syndrome. In: Genetic Counseling. Presented at the 16th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 08 Sep 2005-09 Sep 2005. Utine, G., Alanay, Y., Oktas, D., Vermeesch, J., Tuncbilek, E., Fryns, J-P. (2006). Detection of a complex chromosomal aberration in a dysmorphic patient by multicolor FISH and microarray CGH. In: Genetic Counseling: vol. 17 (1), (131-132). Presented at the 16th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 08 Sep 2005-09 Sep 2005. Dimitrov, B., Vermeesch, J., Hannes, F., Balikova, I., Debeer, P., Devriendt, K., Fryns, J-P. (2006). 9p terminal deletion and genetics of trigonocephaly. Presented at the 7th National conference for general practitioners and paediatricians, Slanchev Briag, Bulgarije, 24 May 2006-26 May 2006. Thienpont, B., Mertens, L., Eyskens, B., Boshoff, D., Maas, N., Fryns, J-P., Gewillig, M., Vermeesch, J., Devriendt, K. (2006). Array-CGH: une nouvelle approche dans le diagnostic génétique de patients avec malformations cardiaques congénitales. In: Médecine Sciences: vol. 22, (Abstract No. CO8/165). Presented at the 3èmes Assises de Génétique Humaine et Médicale, Le Corum-Montpellier, 26 Jan 2006-28 Jan 2006. Maas, N., Melotte, C., Van Buggenhout, G., Fryns, J-P., Vermeesch, J. (2006). The analysis of 4p chromosomal abnormalities using micro-array CGH; genotype-phenotype correlation. In: European Journal of Human Genetics, (Abstract No. P0333). Presented at the European Human Genetics Conference 2006 in conjunction with the European Meeting on Psychosocial Aspects of Genetics, Amsterdam, The Netherlands, 06 May 2006-09 May 2006. Vanneste, E., Le Caignec, C., Debrock, S., Amyere, M., Vikkula, M., Staessen, C., Liebaers, I., Fryns, J-P., D'Hooghe, T., Vermeesch, J. (2006). Human embryo chromosomal imbalances detection by array CGH. (Abstract No. O38). Presented at the Marie Curie Conferences and Training Courses on arrayCGh and Molecular Cytogenetics, Leuven, Belgium, 13 Sep 2006-16 Sep 2006. Backx, L., Van Esch, H., Melotte, C., Kosyakova, N., Starke, H., Fryns, J-P., Liehr, T., Vermeesch, J. (2006). Array CGH using microdissected chromosomes to map chromosomal breakpoints. (Abstract No. P97). Presented at the Marie Curie Conferences and Training Courses on arrayCGh and Molecular Cytogenetics, Leuven, Belgium, 13 Sep 2006-16 Sep 2006. Dimitrov, B., Vermeesch, J., Hannes, F., Balikova, I., de Ravel, T., Debeer, P., Devriendt, K., Fryns, J-P. (2006). Genetics of trigonocephaly. In: Balkan Journal of Mefdical Genetics: vol. 9 (3), (Abstract No. OP18). Presented at the 7th Balkan Meeting on Human Genetics, Skopje, Republic of Macedonia, 31 Aug 2006-02 Sep 2006. de Ravel, T., Balikova, I., Thienpont, B., Hannes, F., Maas, N., Fryns, J-P., Devriendt, K., Vermeesch, J. (2006). Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation. (Abstract No. P18). Presented at the Marie Curie Conferences and Training Courses on arrayCGh and Molecular Cytogenetics, Leuven, Belgium, 13 Sep 2006-16 Sep 2006. Balikova, I., Devriendt, K., Ganev, V., Kalev, I., Maas, N., Martens, K., Vermeesch, J., Simeonov, E., Fryns, J-P. (2006). Familial inherited microtia caused by amplification of the 4p16.1 olfactory receptor gene cluster. Presented at the 7th National conference for general practitioners and paediatricians, Slanchev Briag, Bulgarije, 24 May 2006-26 May 2006. Thienpont, B., Mertens, L., Van Loo, P., Eyskens, B., Boshoff, D., Maas, N., de Ravel, T., Fryns, J-P., Gewillig, M., Vermeesch, J., Devriendt, K. (2006). Array-CGH: a novel tool in genetic diagnosis of individuals with congenital heart defects. (Abstract No. O10). Presented at the Marie Curie Conferences and Training Courses on arrayCGh and Molecular Cytogenetics, Leuven, Belgium, 13 Sep 2006-16 Sep 2006. Balikova, I., Dimitrov, B., Devriendt, K., de Ravel, T., Ganev, V., Kalev, I., Vermeesch, J., Simeonov, E., Fryns, J-P. (2006). Molecular karyotyping - novel powerful tool for gene identification. In: Balkan Journal of Medical Genetics: vol. 9 (3), (Abstract No. OP15). Presented at the . 7th Balkan Meeting on Human Genetics, Skopje, Republic of Macedonia, 31 Aug 2006-02 Sep 2006. Thienpont, B., Mertens, L., Eyskens, B., Boshoff, D., de Ravel, T., Fryns, J-P., Gewillig, M., Vermeesch, J., Devriendt, K. (2006). Array CGH: A novel tool in genetic diagnosis of individuals with congenital heart defects. Presented at the 12th Manchester Birth Defects Conference, Manchester, UK., 21 Nov 2006-24 Nov 2006. Crepel, A., Thienpont, B., Vogels, A., Fryns, J-P., Vermeesch, J., Devriendt, K. (2006). A gene for non-syndromic autosomal dominant microcephaly on chromosome 5q35 or 18q22. (Abstract No. P23), (32-32). Presented at the Sixth Annual Meeting of the Belgian Society of Human Genetics, Antwerp, 17 Feb 2006-17 Feb 2006. Pospisilova, H., Baens, M., Michaux, L., Stul, M., Peeters, C., Alexander, D., Jarosova, M., Vermeesch, J., Hagemeijer-Hausman, A., Vandenberghe, P., Marynen, P., Wlodarska, I. (2006). ArrayCGH mapping of the chromosome 14q deletions in CLL. In: Proceedings. Presented at the XX. Olomoucké Hematologické dny. Olomouc. Balikova, I., de Ravel, T., Le Caignec, C., Thienpont, B., Menten, B., Urbina, M., Kooy, F., Speleman, F., Devriendt, K., Fryns, J-P., Vermeesch, J. (2006). Subtelomeric imbalances in phenotypically normal individuals. (Abstract No. O4). Presented at the Marie Curie Conferences and Training Courses on arrayCGh and Molecular Cytogenetics, Leuven, Belgium, 13 Sep 2006-16 Sep 2006. Maertens, O., Prenen, H., Debiec-Rychter, M., Wozniak, A., Sciot, R., Pauwels, P., De Weer, I., Vermeesch, J., De Paepe, A., Van Oosterom, A., Messiaen, L., Legius, E. (2006). Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. (Abstract No. P54). Presented at the Sixth Annual Meeting of the Belgian Society of Human Genetics, Antwerp, 17 Feb 2006-17 Feb 2006. Severi, T., Ying, C., Vermeesch, J., Zeegers, M., Van Lommel, A., Servaes, R., Neyts, J., Fevery, J., van Pelt, J. (2005). Effect of Hepatitis B virus replication on oxidative stress, gene expression and induction of genetic changes in an inducible cell culture model of HepAD38 cells. In: Journal of hepatology: vol. 42, (133-134). Presented at the Annual Meeting EASL, Paris, 13 Apr 2005-17 Apr 2005. Castermans, D., Vermeesch, J., Schrrander-Stumpel, C., Fryns, J-P., Van de Ven, W., Steyaert, J., Creemers, J., Devriendt, K. (2005). Positional cloning of four candidate genes for autism: a possible role for neuron vesicle trafficking in the pathogenesis of autism. Presented at the Fifth Annual Meeting of the Belgian Society of Human Genetics, Liège, 25 Jan 2005-25 Jan 2005. Vermeesch, J., Martens, K., Maas, N., Melotte, C., Van Vooren, S., De Moor, B., Engelen, J., Starke, H., Vetrie, D., Fiegler, H., Matthijs, G., Fryns, J-P., Casteels, I., Devriendt, K. (2005). Familial inherited microtia caused by amplification of the 4p16.1 olfactory receptor gene cluster. In: Chromosome research: vol. 13, (204-204). Presented at the 5th Eukropean Cytogenetics Conference, Madrid, Spain, 04 Jun 2005-07 Jun 2005. Menten, B., Pattyn, F., De Preter, K., Robbrecht, P., Mortier, G., De Paepe, A., Van Vooren, S., Vermeesch, J., Moreau, Y., De Moor, B., Speleman, F., vandesompele, J. (2005). ‘arrayCGHbase’: a freely available and versatile tool for data mining and visualisation of array CGH and SNP chip data. In: European Journal of Human Genetics: vol. 13. Presented at the European Human Genetics Conference 2005, Czech Republic, 07 May 2005-10 May 2005. Thienpont, B., Maas, N., Menten, B., Buysse, K., vandesompele, J., Melotte, C., de Ravel, T., Van Vooren, S., Balikova, I., Backx, L., Janssen, S., De Paepe, A., De Moor, B., Moreau, Y., Marynen, P., Fryns, J-P., Mortier, G., Devriendt, K., Speleman, F., Vermeesch, J. (2005). Detection of structural low grade mosaicism by array CGH. (Abstract No. O4). Presented at the Second Marie curie conference on ArrayCGH and Molecular Cytogenetics, Bari, Italy, 20 Oct 2005-22 Oct 2005. Menten, B., Buysse, K., Maas, N., Thienpont, B., Vandesompele, J., Melotte, C., de Ravel, T., Van Vooren, S., Balikova, I., Backx, L., Janssens, S., De Paepe, A., De Moor, B., Moreau, Y., Marynen, P., Fryns, J-P., Mortier, G., Devriendt, K., Vermeesch, J., Speleman, F. (2005). Array CGH findings in a large series of 150 patients with idiopathic mental retardation and congenital anomalies: unexpected findings and implications for future routine diagnostic screening. (Abstract No. O3). Presented at the Second Marie curie conference on ArrayCGH and Molecular Cytogenetics, Bari, Italy, 20 Oct 2005-22 Oct 2005. Van Vooren, S., Allemeersch, J., Van Delm, W., De Moor, B., Vermeesch, J., Moreau, Y. (2005). Text mining for constitutional cytogenetics. (Abstract No. O12). Presented at the Second Marie curie conference on ArrayCGH and Molecular Cytogenetics, Bari, Italy, 20 Oct 2005-22 Oct 2005. Backx, L., Melotte, C., Thoelen, R., Van Esch, H., Vermeesch, J. (2005). Optimizing and automating direct fluorescent labelling of BAC clones by DOP PCR. Presented at the Fifth Annual Meeting of the Belgian Society of Human Genetics, Liège, 25 Jan 2005-25 Jan 2005. Dimitrov, B., Vermeesch, J., Polleunis, L., Meeus, C., Devriendt, K. (2005). Duplication 22q11-polymorphism versus syndrome? Presented at the Fifth Annual Meeting of the Belgian Society of Human Genetics, Liège, 25 Jan 2005-25 Jan 2005. Maas, N., Menten, B., Melotte, C., Thienpont, B., Buysse, K., Froyen, G., Marynen, P., De Paepe, A., Fryns, J-P., Mortier, G., Devriendt, K., Vermeesch, J., Speleman, F. (2005). ArrayCGH analysis detects cryptic chromosomal aberrations in more than twenty percent of patients with idiopathic mental retardation and multiple congenital anomalies. Presented at the Fifth Annual Meeting of the Belgian Society of Human Genetics, Liège, 25 Jan 2005-25 Jan 2005. Froyen, G., Van Esch, H., Bauters, M., Melotte, C., Dutta, B., Van Hummelen, P., Vermeesch, J., Fryns, J-P., Devriendt, K., Marynen, P. (2005). A full coverage high-resolution X-chromosome array for the detection of submicroscopic genomic copy number changes in patients with mental retardation. Presented at the Fifth Annual Meeting of the Belgian Society of Human Genetics, Liège, 25 Jan 2005-25 Jan 2005. Thienpont, B., Vermeesch, J., Fryns, J-P., Van Buggenhout, G. (2005). Partial trisomy of chromosome 21 in an older mentally retarded patient. Presented at the Fifth Annual Meeting of the Belgian Society of Human Genetics, Liège, 25 Jan 2005-25 Jan 2005. Melotte, C., Maas, N., Thienpont, B., Devriendt, K., Van Buggenhout, G., Fryns, J-P., Vermeesch, J. (2005). Detection of low grade mosaics by array CGH. Presented at the Fifth Annual Meeting of the Belgian Society of Human Genetics, Liège, 25 Jan 2005-25 Jan 2005. Balikova, I., Ganev, V., Kalv, I., Vermeesch, J., Dimitrov, B., Fryns, J-P., Simeonov, E. (2005). CGH microarray: a new powerful method for total genomic screening. Presented at the VI National conference for General Practitioners and Pediatricians, Nessebur, Bulgaria, 22 May 2005-24 May 2005. Wozniak, A., Sciot, R., Pauwels, P., Vermeesch, J., Limon, J., Debiec-Rychter, M. (2005). CGH-microarray analysis of gastrointestinal stromal tumors (GISTs). In: Chromosome Research: vol. 13, (Abstract No. 2.34-P). Presented at the 5th European Cytogenetics Conference (5th ECG), Madrid, Spain, 04 Jun 2005-07 Jun 2005. Maas, N., Meflotte, C., Van Buggenhout, G., Thoelen, R., Fryns, J-P., Vermeesch, J. (2005). Phenotype-genotype correlation of patients with 4p chromosomal abnormalities. In: Genetic Counseling: vol. 16 (1), (220-221). Presented at the 15th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 02 Sep 2004-03 Sep 2004. Maas, N., Menten, B., Melotte, C., Thienpont, B., Buysse, K., Froyen, G., Marynen, P., De Paepe, A., Fryns, J-P., Mortier, G., Devriendt, K., Speleman, F., Vermeesch, J. (2005). Molecular karkyotyping detecs structural low grade mosaics in 4 % of patietns with idiopathic mental retardation and multiple congenital aberrations. In: European Journal of Human Genetics: vol. 13. Presented at the European Human Genetics Conference 2005, Czech Republic, 07 May 2005-10 May 2005. De Raedt, T., Maertens, O., Brems, H., Heyns, I., Vermeesch, J., Sciot, R., Messiaen, L., Legius, E. (2005). Different mechanism of second hit in neurofibromas depending on the germline NF1 mutation. In: European Journal of Human Genetics: vol. 13, (Abstract No. C19). Presented at the European Human Genetics Conference 2005., Prague, Czech Republic, 07 May 2005-10 May 2005. Le Caignec, C., Sermon, K., Thienpont, B., Spits, C., De Rycke, M., Van Steirteghem, A., Liebaers, I., Vermeesch, J. (2005). Single cell aneuploidy detection by array CGH. (Abstract No. O7). Presented at the Second Marie curie conference on ArrayCGH and Molecular Cytogenetics, Bari, Italy, 20 Oct 2005-22 Oct 2005. Castermans, D., Vermeesch, J., Schrander-Stumpel, C., Fryns, J-P., Van de Ven, W., Steyaert, J., Creemers, J., Devriendt, K. (2005). Positional cloning of four candidate genes for autism: a possible role for neuron vesicle trafficking in the pathogenesis of autism. In: European Journal of Human Genetics, (Abstract No. P0765). Presented at the European Human Genetics Conference 2005, May 7-10, 2005. Froyen, G., Van Esch, H., Bauters, M., Vermeesch, J., Vanhummelen, P., Fryns, J-P., Devriendt, K., Marynen, P. (2005). Screening of submicroscopic genomic aberrations in patients with X-linked mental retardation by high resolution array-CGH. In: European Journal of Human Genetics: vol. 13, (Abstract No. P0042). Presented at the European Human Genetics Conference 2005, Prague, Czech Republic, 07 May 2005-10 May 2005. Sanlaville, D., Vermeesch, J., Chaabouni, M., Prieur, M., Genevieve, D., Goldenberg, A., Romana, S., Turleau, C., Vekemans, M., Fryns, J-P. (2005). Molecular karyotyping of two interstitial 10q25 deletions using CGH microarrays. In: Chromosome Research: vol. 13, (Abstract No. 1.36P). Presented at the 5th European Cytogenetics Conference (5th ECG), Madrid, Spain, 04 Jun 2005-07 Jun 2005. Maas, N.M C., Menten, B., Melotte, C., Thienpont, B., Buysse, K., Froyen, G., Marynen, P., De Paepe, A., Fryns, J-P., Mortier, G., Devriendt, K., Vermeesch, J., Speleman, F. (2005). ArrayCGH detects mosaics in similar to 4% of patients with MR/CA. In: Chromosome research: vol. 13, (Abstract No. 14.4-O), (202-203). Presented at the 5th European Cytogenetics Conference (5th ECG), Madrid, Spain, 04 Jun 2005-07 Jun 2005. Van Esch, H., Hollanders, K., Badisco, L., Melotte, C., Thienpont, B., Van Hummelen, P., Vermeesch, J., Devriendt, K., Fryns, J-P., Marynen, P., Froyen, G. (2005). Deletion of VCX-A duet o NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Presented at the 12th International Workshop on Fragile X and X-Linked Mental Retardation, Williamsburg, VA, USA, 26 Aug 2005-29 Aug 2005. de Ravel, T., Swillen, A., Vermeesch, J., Fryns, J-P. (2004). The oculo-digito-esophago-duodenal (oded) syndrome and bilateral epibulbar dermoids. In: Genetic Counseling: vol. 15 (1), (123-123). Presented at the 14th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 04 Sep 2003-05 Sep 2003. Cools, J., Graux, C., Melotte, C., Quentmeier, H., Ferrando, A., Levine, R., Vermeesch, J., Stul, M., Dutta, B., Boeckx, N., Bosly, A., Heimann, P., Uyttebroeck, A., Mentens, N., Somers, R., MacLeod, R., Drexler, H., Look, A., Gilliland, D., Michaux, L., Vandenberghe, P., Wlodarska, I., Marynen, P., Hagemeijer, A. (2004). Fusion of NUP214 to ABL1 on amplified extrachromosomal elements in T-ALL. Presented at the Meeting of the American Society of Hematology, San Diego, USA, 01 Jan 2004-01 Jan 2004. Van Buggenhout, G., Melotte, C., Dutta, B., Froyen, G., Van Hummelen, P., Marynen, P., Matthijs, G., Vermeesch, J., Fryns, J-P. (2004). Genotype-phenotype correlation by fish and microarray cgh in atypical Wolf-Hirschhorn patients. In: Genetic Counseling: vol. 15, (127-128). Presented at the 14th European Meeting on Dysmorphology, Strasbourg, France, 04 Sep 2003-05 Sep 2003. Van Buggenhout, G., Van Ravenswaaij-Arts, C., Vermeesch, J., Thoelen, R., Vogels, A., Fryns, J-P. (2004). Interstitial deletion of chromosome 2q31-33: clinical and molecular findings in three patients. In: Genetic Counseling: vol. 15 (1), (126-126). Presented at the 14th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 04 Sep 2003-05 Sep 2003. Melotte, C., Debrock, S., D'Hooghe, T., Fryns, J-P., Vermeesch, J. (2004). Preimplantation genetic diagnosis for a patient with karyotype 46,XX,ins(14;2)(q21;q31q35). In: Medizinische Genetik: vol. 1. Presented at the XIV. Workshop on Fetal Cells and Fetal DNA: Recent Progress in Molecular and Cytogenetic Investigations for Early Prenatal and Postnatal Diagnosis, 01 Jan 2004-01 Jan 2004. Lukusa-Tshilobo, P., Vermeesch, J., holvoet, M., Fryns, J-P., Devriendt, K. (2004). Deletion 2q37.3 and autism: molecular cytogenetic mapping of the linkage region for autistic disorder. In: Genetic Counseling: vol. 15 (1), (125-126). Presented at the 14th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 04 Sep 2003-05 Sep 2003. Dimitrov, B., Devriendt, K., Maas, N., Vermeesch, J., Simeonov, E., Fryns, J-P. (2004). Mesomelic form of short stature, congenital cataract, patent ductus arteriosus and muscular hypotonia associated with de novo translocation (13;18)(q14;q23). In: Genetic Counseling: vol. 15 (1), (130-130). Presented at the 14th European Meeting on Dysmorphology, Le Bischenberg, Strasbourg, France, 04 Sep 2003-05 Sep 2003. Castermans, D., Vermeesch, J., Schrander-Stumpel, C.T., Fryns, J-P., Van de Ven, W., Steyaert, J., Creemers, J., Devriendt, K. (2004). Three candidate genes for autism with a possible role in neuron vesicle trafficking. In: European Journal of Human Genetics: vol. 12, (76-77). Presented at the European Human Genetics Conference, Munich, Germany, 12 Jun 2004-15 Jun 2004. Vermeesch, J., Maas, N., Melotte, C., Van Buggenhout, G., Thoelen, R., Froyen, G., Dutta, B., Van Hummelen, P., Marynen, P., Fryns, J-P. (2004). Micro-array CGH analysis of 4p microdeletions refines the genotype-phenotype map of the region and pinpoints low copy repeats as susceptibility sites for terminal chromosomal deletions. In: European Journal of Human Genetics: vol. 12. Presented at the European Human Genetics Conference, Munich, Germany, 12 Jun 2004-15 Jun 2004. Froyen, G., Swennen, N., Melotte, C., Dutta, B., Van Hummelen, P., Vermeesch, J., Fryns, J-P., Marynen, P. (2004). Construction and validation of arrahCGH for the detection of microdeletions and - duplications in MR patients. In: Genetic Counseling: vol. 15, (267-267). Presented at the 11th International Workshop on Fragile X and X-Linked Mental Retardation, Pafos, Cyprus, 27 Aug 2003-30 Aug 2003. Van Esch, H., Maas, N., Vermeesch, J., Fryns, J-P. (2004). A male with non-specific mental retardation and a paracentric inversion (X)(p21.2-p22.31.). In: Genetic Counseling: vol. 15, (273-273). Presented at the 11th International Workshop on Fragile X and X-Linked Mental Retardation, Pafos, Cyprus, 27 Aug 2003-30 Aug 2003. Peeters, H., Vermeesch, J., Holvoet, M., Fryns, J-P., Devriendt, K. (2002). A de novo mosaic supernumerary marker derived from chromosome 16. In: Genetic Counseling: vol. 14, (146-147). Presented at the 13th European Meeting on Dysmorphology, Strasbourg, France, 05 Sep 2002-06 Sep 2002. Vermeesch, J., Van Dael, R., Devriendt, K., Vogels, A., Holvoet, M., Fryns, J-P., Marynen, P. (1999). Detection of subtelomeric chromosomal rearrangements in familial idiopathic mental retardation. In: CYTOGENETICS AND CELL GENETICS: vol. 85 (1), (169-169). Presented at the Second European Cytogenetics Conference, Vienna, Austria, 03 Jul 1999-06 Jul 1999. Vermeesch, J.R., Van Dael, R., Devriendt, K., Vogels, A., Holvoet, M., Fryns, J.P., Marynen, P. (1999). Detection of subtelomeric chromosomal rearrangements in familial idiopathic mental retardation. In: CYTOGENETICS AND CELL GENETICS: vol. 85 (1-2), (169-169). (URL) Dierlamm, J., Wlodarska, I., Michaux, L., Vermeesch, J., Meeus, P., Verhoef, G., Thomas, J., Mecucci, C., Hagemeijer-Hausman, A., Van den Berghe, H. (1997). FISH identifies different types of duplications with 12q13-15 as the commonly involved segment in B-cell lymphoproliferative malignancies characterized by partial trisomy 12. In: European journal of cancer: vol. 33, (1195-1195). Presented at the -, -. Falzetti, D., Dierlamm, J., Matteucci, C., Wlodarska, I., Vermeesch, J., Stul, M., VandenBerghe, H., Marynen, P., Mecucci, C. (1997). 1q duplication evidenced by chromosome microdissection in a case of marginal-zone B-cell lymphoma. In: CYTOGENETICS AND CELL GENETICS: vol. 77 (1-2), (P16-P16). (URL) Falzetti, D., Dierlamm, J., Matteucci, C., Wlodarska, I., Vermeesch, J., Stul, M., Van den Berghe, H., Marynen, P., Mecucci, C. (1997). 1q duplication evidenced by chromosome microdissection in a case of marginal-zone B-cell lymphoma. In: Cytogenetics and cell genetics: vol. 77 (1). Presented at the -, -. Fryns, J-P., Petit, P., Vermeesch, J., Devriendt, K., Legius, E. (1997). Clinical and molecular approaches of chromosomal syndromes. In: Cytogenetics and cell genetics: vol. 77 (1), (Abstract No. L5). Presented at the 1st European Cytogenetics Conference, Athens, Greece, 22 Jun 1997-25 Jun 1997. Devriendt, K., Petit, P., Vermeesch, J., Fryns, J-P. (1997). Constitutional jumping translocations. In: Cytogenetics and cell genetics: vol. 77 (1), (Abstract No. W59). Presented at the 1st European Cytogenetics Conference, Athens, Greece, 22 Jun 1997-25 Jun 1997. Devriendt, K., Petit, P., Matthijs, G., Vermeesch, J., Fryns, J-P. (1996). Maternal uniparental disomy for chromosome 15 and jumping translocation of distal 15q in a patient with the Prader-Willi syndrome: A molecular and cytogenetic analysis. In: Abstract book. Presented at the Eigth International Clinical Genetics Seminar on "genetic Counseling as we Enter the 21st Century" and "Therapy of Genetic Disorders", MTS "Arcadia", Aegean Sea, Greece, 23 Jun 1996-28 Jun 1996. Devriendt, K., Petit, P., Matthijs, G., Vermeesch, J., Fryns, J-P. (1996). Unusual cytogenetic findings in two female patients with the Prader-Willi syndrome. In: Abstract book. Presented at the Seventh European Meeting on Dysmorphology, Strasbourg, France, 05 Sep 1996-06 Sep 1996.

Accepted Abstracts/Presentations/Posters

Fernandez Gallardo, E., Sifrim, A., Debrock, S., Vermeesch, J.R., Voet, T. (2018). Parallel single cell genome and transcriptome sequencing to study the chromosomal instability during human embryonic preimplantation development: preliminary results. Presented at the ESHRE annual meeting, Barcelona. (professional oriented)

Fernandez Gallardo, E., Sifrim, A., Brown, D., Hollanders, L., Debrock, S., Vermeesch, J.R., Voet, T. (2018). Parallel single cell genome and transcriptome sequencing to study the genomic instability during human embryonic preimplantation development. Presented at the Reproduction and Development: Revealing the Origin of Life, Hinxton, Cambridge, UK. (professional oriented)

Belay, E., Matrai, J., Quatrocelli, M., Mates, L., Acosta Sanchez, A., Ma, L., Sancho Bru, P., Geeraerts, M., Vanuytsel, K., Yan, B., Vermeesch, J., Rincon Acelas, M.Y., Samara, E., Ivics, Z., Verfaillie, C., Sampaolesi, M., Iszvak, Z., Vandendriessche, T., Chuah, M. (2010). Hyperactive transposons for genetic modification of induced pluripotent and adult stem cells: a non-viral paradigm for coaxed differentiation. In: Molecular Therapy. Presented at the Annual Meeting of the American Society of Gene & Cell Therapy, Washington, DC, 17 May 2010-22 May 2010.

Melotte, C., Debrock, S., D'Hooghe, T., Fryns, J-P., Vermeesch, J. (2005). Preimplantation genetic diagnosis for a patient with karyotype 46,XX,ins(14;2)(q21;q31q35). In: Chromosome research: vol. 13, (Abstract No. 7.8-P), (124-124). Presented at the 5th European Cytogenetics Conference (5th ECG), Madrid, Spain, 04 Jun 2005-07 Jun 2005.

PhD Theses

Vervoort, L., Vermeesch, J. (sup.), Breckpot, J. (cosup.) (2022). Low copy repeats flanking chromosome 22q11.2 deletion syndrome.

Che, H., Vermeesch, J. (sup.), Amant, F. (cosup.), Thienpont, B. (cosup.) (2022). Genomic profiling of cell-free DNA.

Kammoun, M., Vermeesch, J. (sup.), Eixarch, E. (sup.), Deprest, J. (cosup.), Gratacos, E. (cosup.) (2019). Genomic analysis of Congenital Diaphragamatic Hernia.

Ardui, S., Vermeesch, J. (sup.), Matthijs, G. (cosup.) (2018). Determination of the Variability and Associated Epigenetic Signature of Tandem Repeats by Single Molecule Sequencing. Open Access

Zablotskaya, A., Vermeesch, J. (sup.), Froyen, G. (cosup.), Verstrepen, K. (cosup.) (2018). Characterization of tandem repeats in human genome and their role in disease.

Masoumi, Z., Vermeesch, J. (sup.), Hansson, S. (sup.) (2018). Investigating the source of free fetal hemoglobin in preeclampsia: the role of the placenta and the fetus.

Cristofoli, F., Vermeesch, J. (sup.), Seuntjens, E. (cosup.), Van Esch, H. (cosup.) (2018). Identification and functional characterization of novel genes causing syndromic microcephaly.

Ardeshirdavani, A., Moreau, Y. (sup.), Vermeesch, J. (sup.), Aerts, J. (sup.) (2017). A Development Framework for Data Analytics in Genomics.

Sifrim, A., Moreau, Y. (sup.), Vermeesch, J. (sup.), Aerts, J. (sup.) (2016). Interpretation and Prioritization of Genomic Single-Nucleotide Variation.

Isrie, M., Van Esch, H. (sup.), Vermeesch, J. (cosup.), Devriendt, K. (cosup.) (2016). Discovery of Novel Genes for Intellectual Disability and Multiple Congenital Anomalies in the Next Generation Sequencing Era.

Zamani Esteki, M., Voet, T. (sup.), Vermeesch, J. (cosup.), Moreau, Y. (cosup.) (2015). Haplarithmisis to study haplotypes genome-wide to single-cell resolution, enabling a generic method for preimplantation genectic diagnosis in the clinic and novel fundamental genome research. 285

Van der Aa, N., Voet, T. (sup.), Vermeesch, J. (cosup.), D'Hooghe, T. (cosup.) (2015). Sequencen van individuele cellen voor het bestuderen van chromosoom instabiliteit in embryos en de origine van structurele genetische variatie.

Brady, P., Vermeesch, J. (sup.), Devriendt, K. (cosup.), Deprest, J. (cosup.) (2014). Prenatal Chromosomal Microarray Analysis and Identification of Genetic Variants in Congenital Diaphragmatic Hernia. Open Access

Robberecht, C., Vermeesch, J. (sup.) (2012). Copy number variations as cause of infertility and embryonic lethality.

Hannes, F., Vermeesch, J. (sup.), Fryns, J-P. (cosup.) (2011). The Molecular Dissection of Contiguous Gene Syndromes with a Focus on 4p16 Deletion Syndrome. 192Open Access

Vanneste, E., Vermeesch, J. (sup.), D'Hooghe, T. (cosup.), Debrock, S. (cosup.) (2010). Single cell array analysis of cleavage stage embryos.

Balikova, I., Fryns, J-P. (sup.), Vermeesch, J. (cosup.) (2010). The role of copy number variations in the etiology of congenital ocular malformations. 152

Backx, L., Van Esch, H. (sup.), Vermeesch, J. (cosup.) (2010). Implementation of array painting for the identification of candidate genes for (non-)syndromic intellectual disability.

de Ravel de l'Argentiere, T., Fryns, J-P. (sup.), Vermeesch, J. (cosup.) (2009). Genetic Diagnosis in Mental Retardation: The Contribution of Array Comparative Genomic Hybridization.

Thienpont, B., Devriendt, K. (sup.), Vermeesch, J. (cosup.) (2009). Improving our Insight in the Genetic Origin of Congenital Heart defects using Array Comparative Genome Hybridization. Open Access

Maas, N., Fryns, J-P. (sup.), Vermeesch, J. (cosup.) (2008). Microarray Comparative Genome Hybridization in mental retardation / congenital malformations. Open Access

Accepted PhD Theses

Masoumi, Z., Hansson, S. (sup.), Vermeesch, J. (sup.) (2018). The changes of fetal hematopoietic stem and progenitor cells and erythropoiesis in preeclamptic fetuses.

Reports

Matthijs, G., Vermeesch, J., Aerts, J., Borry, P., Devriendt, K., Dierickx, K., Moreau, Y., Schokkaert, E., Swillen, A., Van Esch, H., Verhenneman, G. (2011). Totale genoomanalyse bij de mens. Metaforum Visietekst, 6, 1-44, werkgroep Metaforum Leuven. [ACRES] Open Access

Other

Cheng, H., Capponi, S., Wakeling, E., Marchi, E., Li, Q., Zhao, M., Weng, C., Stefan, P.G., Ahlfors, H., Kleyner, R., Rope, A., Lumaka, A., Lukusa, P., Devriendt, K., Vermeesch, J., Posey, J.E., Palmer, E.E., Murray, L., Leon, E., Diaz, J., Worgan, L., Mallawaarachchi, A., Vogt, J., de Munnik, S.A., Dreyer, L., Baynam, G., Ewans, L., Stark, Z., Lunke, S., Goncalves, A.R., Soares, G., Oliveira, J., Fassi, E., Willing, M., Waugh, J.L., Faivre, L., Riviere, J-B., Moutton, S., Mohammed, S., Payne, K., Walsh, L., Begtrup, A., Sacoto, M.J., Douglas, G., Alexander, N., Buckley, M.F., Mark, P.R., Ades, L.C., Sandaradura, S.A., Lupski, J.R., Roscioli, T., Agrawal, P.B., Kline, A.D., Wang, K., Timmers, H.T M., Lyon, G.J. (2020). Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity (vol 41, pg 449, 2020). HUMAN MUTATION, 41 (5), 1075-1075. doi: 10.1002/humu.24003

Vanuytsel, K., Cai, Q., Khurana, S., Shetty, S., Vermeesch, J.R., Ordovas, L., Verfaillie, C.M. (2020). FANCA knockout in human embryonic stem cells causes a severe growth disadvantage (vol 13, 240, 2014). STEM CELL RESEARCH, 44, Art.No. ARTN 101763. doi: 10.1016/j.scr.2020.101763 Open Access

Kalbfleisch, T.S., Rice, E.S., DePriest, M.S., Walenz, B.P., Hestand, M.S., Vermeesch, J.R., O'Connell, B.L., Fiddes, I.T., Vershinina, A.O., Saremi, N.F., Petersen, J.L., Finno, C.J., Bellone, R.R., Mccue, M.E., Brooks, S.A., Bailey, E., Orlando, L., Green, R.E., Miller, D.C., Antczak, D.F., MacLeod, J.N. (2019). Improved reference genome for the domestic horse increases assembly contiguity and composition (vol 1, 197, 2018). COMMUNICATIONS BIOLOGY, 2, Art.No. ARTN 342. doi: 10.1038/s42003-019-0591-3

Zamani Esteki, M., Vermeesch, J., Voet, T. (2015). Haplotyping and copy number typing by polymorphic variant allele frequencies.

Delio, M., Guo, T., McDonald-McGinn, D.M., Zackai, E., Herman, S., Kaminetzky, M., Higgins, A.M., Coleman, K., Chow, C., Jalbrzikowski, M., Bearden, C.E., Bailey, A., Vangkilde, A., Olsen, L., Olesen, C., Skovby, F., Werge, T.M., Templin, L., Busa, T., Philip, N., Swillen, A., Vermeesch, J.R., Devriendt, K., Schneider, M., Dahoun, S., Eliez, S., Schoch, K., Hooper, S.R., Shashi, V., Samanich, J., Marion, R., van Amelsvoort, T., Boot, E., Klaassen, P., Duijff, S.N., Vorstman, J., Yuen, T., Silversides, C., Chow, E., Bassett, A., Frisch, A., Weizman, A., Gothelf, D., Niarchou, M., van den Bree, M., Owen, M.J., Suner, D.H., Andreo, J.R., Armando, M., Vicari, S., Digilio, M.C., Auton, A., Kates, W.R., Wang, T., Shprintzen, R.J., Emanuel, B.S., Morrow, B.E. (2013). Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes (vol 92, pg 439, 2013). AMERICAN JOURNAL OF HUMAN GENETICS, 92 (4), 637-637. doi: 10.1016/j.ajhg.2013.03.005 Vermeesch, J., Voet, T., Zamani Esteki, M. (2011). Methods for haplotyping single cells.

Vermeesch, J. (2009). Molecular karyotyping: From postnatal to preimplantation genetic diagnosis. Educational Resources Online.

Vermeesch, J. (2009). Mendelian CNV mutations. Copy Number Variation.

Voet, T., Vermeesch, J. (2007). Evaluation of the performance of Amersham HyPer5 dye in comparative genomic hybridization microarray applications. Open Access

Maas, N., Vermeesch, J., Fryns, J.P. (2007). Facial assymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome. A microdeletion/duplication in 13q (vol 17, pg 477, 2006). GENETIC COUNSELING, 18 (2), 263-263. (URL)

Vermeesch, J., Debiec-Rychter, M., Melotte, C., Maas, N., Fryns, J-P., Devriendt, K. (2005). Molecular karyotyping: Towards improved pre- and postnatal diagnosis. E. C. A. - European Cytogeneticists Association Newsletter, 15, 9-15.

Debeer, P., Vandenbossche, L., de Ravel, T., Desloovere, C., De Smet, L., Huysmans, C., Thoelen, R., Vermeesch, J., Van de Ven, W., Fryns, J-P. (2004). Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1 (vol 65, pg 153, 2004). Clinical Genetics, 65 (4), 345-345. doi: 10.1111/j.0009-9163.2004.00247.x

Dimitrov, B., Devriendt, K., Maas, N.M C., Vermeesch, J.R., Zahariev, D., Popova, D.A A., Fryns, J.P., Simeonov, E. (2004). Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23) (vol 15, pg 191, 2004). GENETIC COUNSELING, 15 (3), 395-395. (URL)