W.M. Wissink-Lindhout

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

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 · 299 citations · Full text

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 · 267 citations · Full text

Histone Modifications, Chromatin, Chromatin Structure +9

Chromosome 1p21.3 microdeletions comprising <i>DPYD</i> and <i>MIR137</i> are associated with intellectual disability

Marjolein H. Willemsen, Astrid Vallès, Laurens A. M. H. Kirkels et al. · Journal of Medical Genetics · 2011 · 202 citations

Update on Kleefstra Syndrome

Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen et al. · Molecular Syndromology · 2011 · 178 citations · Full text

Down Syndrome, Chromatin, Developmental Biology +15