Gudrun Rappold
Heidelberg University(DE)University Hospital Heidelberg(DE)Institute of Human Genetics(PL)
Publications by Year
Research Areas
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Chromatin Dynamics, Chromosomal and Genetic Variations, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study(2012)1,063 cited
- → Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome(1997)947 cited
- → Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments(2014)654 cited
- → Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation(2010)575 cited
- → Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes(2010)506 cited
- → Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter(1998)372 cited