Arjan P.M. de Brouwer

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 617 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling et al. · The American Journal of Human Genetics · 2012 · 271 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

David A. Koolen, Jamie M. Kramer, Kornelia Neveling et al. · Nature Genetics · 2012 · 241 citations

Life Sciences, Genetics, Molecular Genetics +13

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna et al. · The American Journal of Human Genetics · 2010 · 238 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12