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

Genetic Mutations, Mendelian Disorder, Genetic Disorder +7

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 · 943 citations

Developmental Anomaly, Pseudoautosomal Deletions, Developmental Biology +9

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 · 571 citations

Neurodevelopmental Disorders, Synaptic Plasticity, Molecular Neuroscience +14

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 · 502 citations

Developmental Biology, Molecular Neuroscience, Brain Development +13

Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter

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

Neurophysiology, Physiology, Neurotransmitter +7