A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Ingo Kurth, Vincent Timmerman et al.|Nature Genetics|2013Cited by 304
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Rahel T. Florian, Laura Licchetta, Damien Plassard et al.|Nature Communications|2019Cited by 170
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Ingo Kurth, Vincent Timmerman et al.|Brain|2014Cited by 107
Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing LossAntje K. Huebner, Ingo Kurth, Antonio Viñuela et al.|The American Journal of Human Genetics|2011Cited by 86