Vermeesch, Joris R.

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

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., et al. (2010) · The American Journal of Human Genetics

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22q11.2 deletion syndrome

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. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers

Genomic variations and chromosomal abnormalitiesImmunodeficiency and Autoimmune Disorders

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Chromosome instability is common in human cleavage-stage embryos

Vanneste, E., Voet, T., Le Caignec, C., Ampe, M., Konings, P., Melotte, C., Debrock, S., Amyere, M., Vikkula, M., Schuit, F., et al. (2009) · Nature Medicine

Prenatal Screening and DiagnosticsGenomic variations and chromosomal abnormalities

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Mosaic Copy Number Variation in Human Neurons

McConnell, M. J., Lindberg, M. R., Brennand, K. J., Piper, J. C., Voet, T., Cowing-Zitron, C., Shumilina, S., Lasken, R. S., Vermeesch, J. R., Hall, I. M., et al. (2013) · Science

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

International 22q11.2 Brain and Behavior Consortium, Davies, R. W., Fiksinski, A. M., Breetvelt, E. J., Williams, N. M., Hooper, S. R., Monfeuga, T., Bassett, A. S., Owen, M. J., Gur, R. E., et al. (2020) · Nature Medicine

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

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Molecular genetics of 22q11.2 deletion syndrome

Morrow, B. E., McDonald‐McGinn, D. M., Emanuel, B. S., Vermeesch, J. R., & Scambler, P. J. (2018) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

Hui, L., Ellis, K., Mayen, D., Pertile, M. D., Reimers, R., Sun, L., Vermeesch, J., Vora, N. L., & Chitty, L. S. (2023) · Prenatal Diagnosis

Prenatal Screening and DiagnosticsAssisted Reproductive Technology and Twin Pregnancy

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SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles

Castermans, D., Volders, K., Crepel, A., Backx, L., De Vos, R., Freson, K., Meulemans, S., Vermeesch, J. R., Schrander-Stumpel, C. T. R. M., De Rijk, P., et al. (2010) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium

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., et al. (2017) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

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Genomic organisation, chromosomal localisation tissue distribution and developmental regulation of the PR61/B′ regulatory subunits of protein phosphatase 2A in mice

Martens, E., Stevens, I., Janssens, V., Vermeesch, J., Götz, J., Goris, J., & Van Hoof, C. (2004) · Journal of Molecular Biology

Protein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

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LEF1 haploinsufficiency causes ectodermal dysplasia

Lévy, J., Capri, Y., Rachid, M., Dupont, C., Vermeesch, J. R., Devriendt, K., Verloes, A., Tabet, A., & Bailleul‐Forestier, I. (2020) · Clinical Genetics

dental development and anomaliesGenetic and rare skin diseases.

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A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care

Geysens, M., Souche, E., Baroni, M. C., Benoit, V., Beyltjens, T., Bossuyt, W., Bours, V., Crabbé, M., Croes, D., De Smet, M., et al. (2026) · Genome Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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