Hilde Van Esch

GATA3 haplo-insufficiency causes human HDR syndrome

Hilde Van Esch, Peter Groenen, M. Andrew Nesbit et al. · Nature · 2000 · 645 citations

Autoimmune Disease, Genetic Disorder, Genetics +5

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius et al. · The American Journal of Human Genetics · 2005 · 623 citations · Full text

Severe Mental Retardation, Mendelian Disorder, Psychiatry +12

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 · 613 citations · Full text

Chromatin, Psychiatry, Genetic Disorder +11

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel et al. · The American Journal of Human Genetics · 2006 · 395 citations · Full text

Histone Modifications, Chromatin, Gene Deletion Data +14

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Lars Riff Jensen, M Amende, Ulf Gurok et al. · The American Journal of Human Genetics · 2005 · 374 citations · Full text

Chromatin, Transcriptional Regulation, Genome Instability +14