Hoe herkent u het zeldzame Phelan-McDermidsyndroom?

por Verhoeven, Willem, Houwink, Elisa, de Leeuw, Nicole, Egger, Jos
Publicado 2021

Accurate detection of clinically relevant uniparental disomy from exome sequencing data

por Yauy, Kevin, de Leeuw, Nicole, Yntema, Helger G., Pfundt, Rolph, Gilissen, Christian
Publicado 2019

Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

por Egger, Jos I M, Verhoeven, Willem M A, Verbeeck, Wim, de Leeuw, Nicole
Publicado 2014

Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analys...

por Kooper, Angelique JA, Faas, Brigitte HW, Feenstra, Ilse, de Leeuw, Nicole, Smeets, Dominique FCM
Publicado 2014

Stepwise ABC system for classification of any type of genetic variant

por Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans, den Dunnen, Johan T.
Publicado 2021

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

por Benbouchta, Yahya, De Leeuw, Nicole, Amasdl, Saadia, Sbiti, Aziza, Smeets, Dominique, Sadki, Khalid, Sefiani, Abdelaziz
Publicado 2021

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

por Robberecht, Caroline, Voet, Thierry, Utine, Gülen E, Schinzel, Albert, de Leeuw, Nicole, Fryns, Jean-Pierre, Vermeesch, Joris
Publicado 2012

European guidelines for constitutional cytogenomic analysis

por Silva, Marisa, de Leeuw, Nicole, Mann, Kathy, Schuring-Blom, Heleen, Morgan, Sian, Giardino, Daniela, Rack, Katrina, Hastings, Ros
Publicado 2018

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

por Zada, Almira, Mundhofir, Farmaditya E. P., Pfundt, Rolph, Leijsten, Nico, Nillesen, Willy, Faradz, Sultana M. H., de Leeuw, Nicole
Publicado 2014

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

por Willemsen, Marjolein H., Goel, Himanshu, Verhoeven, Judith S., Braakman, Hilde M. H., de Leeuw, Nicole, Freeth, Alison, Minassian, Berge A.
Publicado 2020

The clustering of functionally related genes contributes to CNV-mediated disease

por Andrews, Tallulah, Honti, Frantisek, Pfundt, Rolph, de Leeuw, Nicole, Hehir-Kwa, Jayne, Vulto-van Silfhout, Anneke, de Vries, Bert, Webber, Caleb
Publicado 2015

From man to fly – convergent evidence links FBXO25 to ADHD and comorbid psychiatric phenotypes

por Harich, Benjamin, Klein, Marieke, Ockeloen, Charlotte W., van der Voet, Monique, Schimmel‐Naber, Marlies, de Leeuw, Nicole, Schenck, Annette, Franke, Barbara
Publicado 2019

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

por Van de Kerkhof, Noortje WA, Feenstra, Ilse, van der Heijden, Frank MMA, de Leeuw, Nicole, Pfundt, Rolph, Stöber, Gerald, Egger, Jos IM, Verhoeven, Willem MA
Publicado 2012

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

por Ross, Jamila, Fennis, Willem, de Leeuw, Nicole, Cune, Marco, Willemze, Annemieke, Rosenberg, Antoine, Ploos van Amstel, Hans‐Kristian, Créton, Marijn, van den Boogaard, Marie‐José
Publicado 2019

Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exo...

por Leite, Ana Julia da Cunha, Pinto, Irene Plaza, Leijsten, Nico, Ruiterkamp-Versteeg, Martina, Pfundt, Rolph, de Leeuw, Nicole, da Cruz, Aparecido Divino, Minasi, Lysa Bernardes
Publicado 2022

Gene Networks Underlying Convergent and Pleiotropic Phenotypes in a Large and Systematically-Phenotyped Cohort with Heterogeneous Developmental Disorders

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

LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions

por Lybæk, Helle, Robson, Michael, de Leeuw, Nicole, Hehir‐Kwa, Jayne Y., Jeffries, Aaron, Haukanes, Bjørn Ivar, Berland, Siren, de Bruijn, Diederik, Mundlos, Stefan, Spielmann, Malte, Houge, Gunnar
Publicado 2022

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

por Pennings, Maartje, Meijer, Rowdy P. P., Gerrits, Monique, Janssen, Jannie, Pfundt, Rolph, de Leeuw, Nicole, Gilissen, Christian, Gardeitchik, Thatjana, Schouten, Meyke, Voermans, Nicol, van de Warrenburg, Bart, Kamsteeg, Erik-Jan
Publicado 2023

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

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

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

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