Vera M. Kalscheuer

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi et al. · Nature · 2011 · 975 citations

Neurodegenerative Diseases, Recessive Cognitive Disorders, Genetic Disorder +6

Germline KRAS mutations cause Noonan syndrome

Suzanne Schubbert, Martin Zenker, Sara L. Rowe et al. · Nature Genetics · 2006 · 736 citations

Germline Kras Mutations, Mendelian Disorder, Genetic Disorder +6

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Sabine Endele, Georg Rosenberger, Kirsten Geider et al. · Nature Genetics · 2010 · 502 citations

Developmental Biology, Molecular Neuroscience, Brain Development +13

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

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