Gudrun Rappold

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

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Ercole Rao, Maki Fukami, Andreas Rump et al. · Nature Genetics · 1997 · 954 citations

Medicine, Genetics, Molecular Genetics +14

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

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

Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter

Dirk Gründemann, Birgit Schechinger, Gudrun Rappold et al. · Nature Neuroscience · 1998 · 372 citations · Full text

Life Sciences, Neurobiology, Neuroscience +14