Eva Wohlleber

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

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

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

Markus Zweier, Anne Gregor, Christiane Zweier et al. · Human Mutation · 2010 · 179 citations

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Alma Kuechler, Alexander M. Zink, Thomas Wieland et al. · European Journal of Human Genetics · 2014 · 143 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Denise Horn, Johannes Kapeller, Núria Rivera‐Bruguès et al. · Human Mutation · 2010 · 138 citations · Full text