Sabine Endele

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Genetic Mutations, Mendelian Disorder, Genetic Disorder +7

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

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Juliane Hoyer, Arif B. Ekici, Sabine Endele et al. · The American Journal of Human Genetics · 2012 · 257 citations · Full text

Chromatin, Developmental Biology, Chromatin Structure +11

LETM1, deleted in Wolf Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability

Kai Stefan Dimmer, Francesca Navoni, Alberto Casarin et al. · Human Molecular Genetics · 2007 · 188 citations

LETM1, A Novel Gene Encoding a Putative EF-Hand Ca2+-Binding Protein, Flanks the Wolf–Hirschhorn Syndrome (WHS) Critical Region and Is Deleted in Most WHS Patients

Sabine Endele, M. Fuhry, Sang-Jin Pak et al. · Genomics · 1999 · 154 citations

Genetic Disorder, Genetics, Pathology +6