Kerstin Kutsche

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

Hyung‐Goo Kim, Shotaro Kishikawa, Anne W. Higgins et al. · The American Journal of Human Genetics · 2008 · 579 citations · Full text

Syndromic Autism, Immunology, Autism +3

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

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

Hanno J. Bolz, Benigna von Brederlow, Alfredo Ramı́rez et al. · Nature Genetics · 2001 · 493 citations

Genetic Disorder, Genetics, Pathogenesis +6

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio et al. · Nature Genetics · 2009 · 410 citations · Full text

Noonan-like Syndrome, Loose Anagen Hair, Genetics +3

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

Kerstin Kutsche, Helger G. Yntema, Alexander Brandt et al. · Nature Genetics · 2000 · 370 citations

Exchange Factor, Mendelian Disorder, Rho Gtpases +9