Endele, Sabine

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

Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., et al. (2012) · The Lancet

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 1,041

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

Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., et al. (2010) · Nature Genetics

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 499

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

Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., Wohlleber, E., Dufke, A., Rossier, E., Petsch, C., et al. (2012) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersChromatin Remodeling and Cancer

Cited by 263