15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review

by Yahya Benbouchta, Nicole De Leeuw, Saadia Amasdl, Aziza Sbiti, Dominique Smeets, Khalid Sadki, Abdelaziz Sefiani
Published 2021-09-01

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

by Marjolein H. Willemsen, Himanshu Goel, Judith S. Verhoeven, Hilde M. H. Braakman, Nicole deLeeuw, Alison Freeth, Berge A. Minassian
Published 2020-06-01

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

by Almira Zada, Farmaditya E. P. Mundhofir, Rolph Pfundt, Nico Leijsten, Willy Nillesen, Sultana M. H. Faradz, Nicole de Leeuw
Published 2014-01-01

Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report

by Jamila Ross, Willem Fennis, Nicole deLeeuw, Marco Cune, Annemieke Willemze, Antoine Rosenberg, Hans‐Kristian Ploos van Amstel, Marijn Créton, Marie‐José van denBoogaard
Published 2019-06-01

Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.

by Tallulah Andrews, Stephen Meader, Anneke Vulto-van Silfhout, Avigail Taylor, Julia Steinberg, Jayne Hehir-Kwa, Rolph Pfundt, Nicole de Leeuw, Bert B A de Vries, Caleb Webber
Published 2015-03-01

EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction

by Anneke de Boer, Karlijn Vermeulen, Jos I. M. Egger, Joost G. E. Janzing, Nicole de Leeuw, Hermine E. Veenstra-Knol, Nicolette S. den Hollander, Hans van Bokhoven, Wouter Staal, Tjitske Kleefstra
Published 2018-01-01

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

by Joep de Ligt, Philip M. Boone, Rolph Pfundt, Lisenka E.L.M. Vissers, Nicole de Leeuw, Christine Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman, Jayne Y. Hehir-Kwa
Published 2014-12-01

Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants

by Tessa M. A. Peters, Irma Lammerts van Bueren, Ben P.B.H. Geurtz, Karlien L. M. Coene, Nicole deLeeuw, Han G. Brunner, Jón J. Jónsson, Michèl A. A. P. Willemsen, Ron A. Wevers, Marcel M. Verbeek
Published 2021-03-01