Yorck Hellenbroich

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

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, Arif O. Khan et al. · PLoS ONE · 2013 · 225 citations · Full text

Cnv Analysis, Genetics, Genetic Epidemiology +17

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

Claudia Dafinger, Max C. Liebau, Solaf M. Elsayed et al. · Journal of Clinical Investigation · 2011 · 208 citations

Specific Brain Malformation, Developmental Biology, Mendelian Disorder +14

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

Christine Zühlke, Yorck Hellenbroich, Andreas Dalski et al. · European Journal of Human Genetics · 2001 · 114 citations · Full text

Genetic Disorder, Medicine, Genetics +9

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias

Andreas Dalski, Jassemien Atici, Friedmar R. Kreuz et al. · European Journal of Human Genetics · 2004 · 101 citations · Full text

Inherited Ataxias, Mendelian Disorder, Genetic Disorder +9