Ute Moog

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

Life Sciences, Genetics, Molecular Genetics +16

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Simone Berkel, Christian R. Marshall, Jennifer Howe et al. · Nature Genetics · 2010 · 578 citations

Life Sciences, Molecular Genetics, Neuroscience +13

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 575 citations · Full text

Medicine, Genetics, Neurology +17

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 · 509 citations

Life Sciences, Genetics, Neuroscience +16

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

H.‐J. Lüdecke, Jörg Schaper, Peter Meinecke et al. · The American Journal of Human Genetics · 2001 · 234 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6