Georg Christoph Korenke

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Enrico Leipold, Lutz Liebmann, Georg Christoph Korenke et al. · Nature Genetics · 2013 · 304 citations

Life Sciences, Genetics, Neuroscience +11

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortüm, Viviana Caputo, Christiane K. Bauer et al. · Nature Genetics · 2015 · 218 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

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 · 214 citations

Life Sciences, Cell Biology, Genetics +17

Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy

Cyril Mignot, Celina von Stülpnagel, Caroline Nava et al. · Journal of Medical Genetics · 2016 · 200 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

M. Pineda, J. E. Wraith, Eugen Mengel et al. · Molecular Genetics and Metabolism · 2009 · 193 citations

Medicine, Internal Medicine, Clinical Epidemiology +3