Céline Helsmoortel

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly A.F. Stessman, Bo Xiong, Bradley P. Coe et al. · Nature Genetics · 2017 · 558 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetics +13

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe et al. · Nature Genetics · 2014 · 369 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetic Disorder +9

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders

Zafar Iqbal, Geert Vandeweyer, Monique van der Voet et al. · Human Molecular Genetics · 2013 · 176 citations · Full text

Psychiatric Disorders, Genetics, Molecular Genetics +18

The transcriptional regulator<i>ADNP</i>links the BAF (SWI/SNF) complexes with autism

Geert Vandeweyer, Céline Helsmoortel, Anke Van Dijck et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2014 · 81 citations · Full text