Eva Rossier

RAD21 Mutations Cause a Human Cohesinopathy

Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht et al. · The American Journal of Human Genetics · 2012 · 267 citations · Full text

Rad21 Mutations Cause, Genetic Disorder, Genetics +4

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

Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy

Cyril Mignot, Celina von Stülpnagel, Caroline Nava et al. · Journal of Medical Genetics · 2016 · 194 citations

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

The Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria): Case Reports of 23 New Patients

K. Michael Gibson, Ernst Christensen, Cornelis Jakobs et al. · PEDIATRICS · 1997 · 142 citations · Full text