J
Joris Vermeesch
Researcher at Katholieke Universiteit Leuven
Publications - 112
Citations - 13490
Joris Vermeesch is an academic researcher from Katholieke Universiteit Leuven. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 41, co-authored 86 publications receiving 11964 citations. Previous affiliations of Joris Vermeesch include Catholic University of Leuven & Vrije Universiteit Brussel.
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Journal ArticleDOI
Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller,Margaret P Adam,Margaret P Adam,Swaroop Aradhya,Leslie G. Biesecker,Arthur R. Brothman,Nigel P. Carter,Deanna M. Church,John A. Crolla,Evan E. Eichler,Charles J. Epstein,W. Andrew Faucett,Lars Feuk,Jan M. Friedman,Ada Hamosh,Laird G. Jackson,Erin B. Kaminsky,Klaas Kok,Ian D. Krantz,Robert M. Kuhn,Charles Lee,James Ostell,Carla Rosenberg,Stephen W. Scherer,Nancy B. Spinner,Dimitri J. Stavropoulos,James Tepperberg,Erik C. Thorland,Joris Vermeesch,Darrel Waggoner,Michael S. Watson,Christa Lese Martin,David H. Ledbetter +32 more
TL;DR: Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA).
Journal ArticleDOI
22q11.2 deletion syndrome
Donna M. McDonald-McGinn,Kathleen E. Sullivan,Bruno Marino,Nicole Philip,Ann Swillen,Jacob A. S. Vorstman,Elaine H. Zackai,Beverly S. Emanuel,Joris Vermeesch,Bernice E. Morrow,Peter J. Scambler,Anne S. Bassett +11 more
TL;DR: The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease as mentioned in this paper.
Journal ArticleDOI
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Heather C Mefford,Andrew J. Sharp,Carl Baker,Andy Itsara,Zhaoshi Jiang,Karen Buysse,Shuwen Huang,Viv K. Maloney,John A. Crolla,Diana Baralle,Amanda L. Collins,Catherine Mercer,Koenraad Norga,Thomy de Ravel,Koenraad Devriendt,Ernie M.H.F. Bongers,Nicole de Leeuw,William Reardon,Stefania Gimelli,Frédérique Béna,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Alison Male,Lorraine Gaunt,Jill Clayton-Smith,Ingrid Simonic,Soo Mi Park,Sarju G. Mehta,Serena Nik-Zainal,C. Geoffrey Woods,Helen V. Firth,Georgina Parkin,Marco Fichera,Santina Reitano,Mariangela Lo Giudice,Kelly Li,Iris Casuga,Adam Broomer,Bernard Conrad,Markus Schwerzmann,Lorenz Räber,Sabina Gallati,Pasquale Striano,Antonietta Coppola,John Tolmie,Edward S. Tobias,Chris Lilley,Lluís Armengol,Yves Spysschaert,Patrick Verloo,Anja De Coene,Linde Goossens,Geert Mortier,Frank Speleman,Ellen van Binsbergen,Marcel R. Nelen,Ron Hochstenbach,Martin Poot,Louise Gallagher,Michael Gill,Jon McClellan,Mary Claire King,Regina Regan,Cindy Skinner,Roger E. Stevenson,Stylianos E. Antonarakis,Caifu Chen,Xavier Estivill,Björn Menten,Giorgio Gimelli,Susan M. Gribble,Stuart Schwartz,James S. Sutcliffe,Tom Walsh,Samantha J. L. Knight,Jonathan Sebat,Corrado Romano,Charles E. Schwartz,Joris A. Veltman,Bert B.A. de Vries,Joris Vermeesch,John C. K. Barber,Lionel Willatt,May Tassabehji,Evan E. Eichler,Evan E. Eichler +85 more
TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
Journal ArticleDOI
Chromosome instability is common in human cleavage-stage embryos
Evelyne Vanneste,Thierry Voet,Cédric Le Caignec,Cédric Le Caignec,Michèle Ampe,Peter Konings,Cindy Melotte,Sophie Debrock,Mustapha Amyere,Miikka Vikkula,Frans Schuit,Jean-Pierre Fryns,Geert Verbeke,Thomas D'Hooghe,Yves Moreau,Joris Vermeesch +15 more
TL;DR: In this article, a new array-based method allowed screening of genome-wide copy number and loss of heterozygosity in single cells, which revealed not only mosaicism for whole-chromosome aneuploidies and uniparental disomies in most cleavage-stage embryos but also frequent segmental deletions, duplications and amplifications that were reciprocal in sister blastomeres, implying the occurrence of breakage-fusion-bridge cycles.
Journal Article
Chromosome instability is common in human cleavage stage embryos
Evelyne Vanneste,Thierry Voet,Michèle Ampe,Peter Konings,Cindy Melotte,Jean-Pierre Fryns,Geert Verbeke,Thomas D'Hooghe,Yves Moreau,Joris Vermeesch +9 more
TL;DR: This study establishes that chromosome instability is also common during early human embryogenesis and identifies post-zygotic chromosome instability as a leading cause of constitutional chromosomal disorders.