Tjitske Kleefstra

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon et al. · New England Journal of Medicine · 2012 · 1.6K citations · Full text

Genome sequencing identifies major causes of severe intellectual disability

Christian Gilissen, Jayne Y. Hehir‐Kwa, Djie Tjwan Thung et al. · Nature · 2014 · 1.1K citations · Full text

Intellectual Impairment, Genetics, Severe Intellectual Disability +4

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

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