Sebastian Gießelmann

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

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Rahel T. Florian, Florian Kraft, Elsa Leitão et al. · Nature Communications · 2019 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

Uwe Kornak, Inès Mademan, Marte Schinke et al. · Brain · 2014 · 107 citations · Full text

Life Sciences, Genetics, Neurology +15

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

Antje K. Huebner, Marta Gandía, Peter Frommolt et al. · The American Journal of Human Genetics · 2011 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

Katrin Koehler, Saqib Mahmood, Sebastian Gießelmann et al. · The American Journal of Human Genetics · 2013 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15