N
Nicole de Leeuw
Researcher at Radboud University Nijmegen
Publications - 109
Citations - 7416
Nicole de Leeuw is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 34, co-authored 95 publications receiving 6455 citations. Previous affiliations of Nicole de Leeuw include Radboud University Nijmegen Medical Centre.
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Journal ArticleDOI
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian Köhler,Sandra C. Doelken,Christopher J. Mungall,Sebastian Bauer,Helen V. Firth,Helen V. Firth,Isabelle Bailleul-Forestier,Graeme C.M. Black,Danielle L. Brown,Michael Brudno,Jennifer Campbell,Jennifer Campbell,David R. FitzPatrick,Janan T. Eppig,Andrew P. Jackson,Kathleen Freson,Marta Girdea,Ingo Helbig,Jane A. Hurst,Johanna A. Jähn,Laird G. Jackson,Anne M. Kelly,David H. Ledbetter,Sahar Mansour,Christa Lese Martin,Celia Moss,Andrew D Mumford,Willem H. Ouwehand,Willem H. Ouwehand,Soo Mi Park,Erin Rooney Riggs,Richard H. Scott,Sanjay M. Sisodiya,Steven Van Vooren,Ronald J. Wapner,Andrew O.M. Wilkie,Caroline F. Wright,Anneke T. Vulto-van Silfhout,Nicole de Leeuw,Bert B.A. de Vries,Nicole L. Washingthon,Cynthia L. Smith,Monte Westerfield,Paul N. Schofield,Barbara J. Ruef,Georgios V. Gkoutos,Melissa A. Haendel,Damian Smedley,Suzanna E. Lewis,Peter N. Robinson,Peter N. Robinson +50 more
TL;DR: The updated HPO database is described, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO, allowing integration of existing datasets and interoperability with multiple biomedical resources.
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
Diagnostic Genome Profiling in Mental Retardation
Bert B.A. de Vries,Rolph Pfundt,M.A.R. Leisink,David A. Koolen,Lisenka E.L.M. Vissers,Irene M. Janssen,Simon V. van Reijmersdal,Willy M. Nillesen,Erik Huys,Nicole de Leeuw,Dominique Smeets,Erik A. Sistermans,Ton Feuth,Conny M.A. van Ravenswaaij-Arts,Ad Geurts van Kessel,Eric F.P.M. Schoenmakers,Han G. Brunner,Joris A. Veltman +17 more
TL;DR: The results indicate that the diagnostic yield of this approach in the general population of patients with MR is at least twice as high as that of standard GTG-banded karyotyping.
Journal ArticleDOI
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe,Kali Witherspoon,Jill A. Rosenfeld,Bregje W.M. van Bon,Bregje W.M. van Bon,Anneke T. Vulto-van Silfhout,Paolo Bosco,Kathryn Friend,Carl Baker,Serafino Buono,Lisenka E.L.M. Vissers,Janneke H M Schuurs-Hoeijmakers,Alexander Hoischen,Rolph Pfundt,Nik Krumm,Gemma L. Carvill,Deana Li,David G. Amaral,Natasha Brown,Paul J. Lockhart,Ingrid E. Scheffer,Antonino Alberti,Marie Shaw,Rosa Pettinato,Raymond C. Tervo,Nicole de Leeuw,Margot R.F. Reijnders,Beth S. Torchia,Hilde Peeters,Elizabeth A. Thompson,Elizabeth A. Thompson,Brian J. O'Roak,Marco Fichera,Marco Fichera,Jayne Y. Hehir-Kwa,Jay Shendure,Heather C Mefford,Heather C Mefford,Eric Haan,Eric Haan,Jozef Gecz,Bert B.A. de Vries,Corrado Romano,Evan E. Eichler +43 more
TL;DR: An expanded CNV morbidity map was created from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs and an integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function.
Journal ArticleDOI
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
David A. Koolen,Lisenka E.L.M. Vissers,Rolph Pfundt,Nicole de Leeuw,Samantha J. L. Knight,Regina Regan,R. Frank Kooy,Edwin Reyniers,Corrado Romano,Marco Fichera,Albert Schinzel,Alessandra Baumer,Britt-Marie Anderlid,Jacqueline Schoumans,Nine V A M Knoers,Ad Geurts van Kessel,Erik A. Sistermans,Joris A. Veltman,Han G. Brunner,Bert B.A. de Vries +19 more
TL;DR: The detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face is described.