G
Geert Mortier
Researcher at University of Antwerp
Publications - 292
Citations - 20162
Geert Mortier is an academic researcher from University of Antwerp. The author has contributed to research in topics: Dysplasia & Missense mutation. The author has an hindex of 63, co-authored 273 publications receiving 18123 citations. Previous affiliations of Geert Mortier include Cedars-Sinai Medical Center & Ghent University Hospital.
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Journal ArticleDOI
qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data
TL;DR: Advanced and universally applicable models for relative quantification and inter-run calibration with proper error propagation along the entire calculation track are outlined in qBase, a free program for the management and automated analysis of qPCR data.
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
Nosology and classification of genetic skeletal disorders : 2010 revision
Matthew L. Warman,Valérie Cormier-Daire,Christine Hall,Deborah Krakow,Deborah Krakow,Ralph S. Lachman,Martine Lemerrer,Geert Mortier,Stefan Mundlos,Gen Nishimura,David L. Rimoin,Stephen P. Robertson,Ravi Savarirayan,David Sillence,J. Spranger,Sheila Unger,Sheila Unger,Bernhard Zabel,Andrea Superti-Furga,Andrea Superti-Furga +19 more
TL;DR: The Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene.
Journal ArticleDOI
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
Matthew A. Deardorff,Masashige Bando,Ryuichiro Nakato,Erwan Watrin,Takehiko Itoh,Masashi Minamino,Katsuya Saitoh,Makiko Komata,Yuki Katou,Dinah Clark,Kathryn E. Cole,Elfride De Baere,Christophe Decroos,Nataliya Di Donato,Sarah Ernst,Lauren J. Francey,Yolanda Gyftodimou,Kyotaro Hirashima,Melanie Hullings,Yuuichi Ishikawa,Christian Jaulin,Maninder Kaur,Tohru Kiyono,Patrick M. Lombardi,Laura Magnaghi-Jaulin,Geert Mortier,Naohito Nozaki,Michael B. Petersen,Hiroyuki Seimiya,Victoria Mok Siu,Yutaka Suzuki,Kentaro Takagaki,Jonathan J. Wilde,Patrick Willems,Claude Prigent,Gabriele Gillessen-Kaesbach,David W. Christianson,Frank J. Kaiser,Laird G. Jackson,Toru Hirota,Ian D. Krantz,Katsuhiko Shirahige +41 more
TL;DR: HDRAC8 is identified as the vertebrate SMC3 deacetylase, as well as loss-of-function HDAC8 mutations in six CdLS probands, which results in increased SMC 3 acetylation and inefficient dissolution of the ‘used’ cohesin complex released from chromatin in both prophase and anaphase.
Journal ArticleDOI
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
Michael D. Briggs,Susan M.G. Hoffman,Lily King,Anne S. Olsen,Harvey W. Mohrenweiser,JG Leroy,Geert Mortier,David L. Rimoin,David L. Rimoin,Ralph S. Lachman,E S Gaines +10 more
TL;DR: The data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca++ binding in COMP structure and function and show the importance of knowing the carrier and removal status of canine coronavirus.