Gotthold Barbi

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Davor Lessel, Bruno Vaz, Swagata Halder et al. · Nature Genetics · 2014 · 241 citations

Hepatology, Medicine, Genetics +9

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

Doris Wöhrle, Dieter Kotzot, Mark C. Hirst et al. · PubMed · 1992 · 173 citations

Familial pericentric inversion of chromosome 12

I. Voiculescu, Gotthold Barbi, Günther Wolff et al. · Human Genetics · 1986 · 84 citations

Chromatin, Cytogenetics, Genetics +6

Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles

Anne-Kathrin Lutz, Stefanie Pfaender, Berra Incearap et al. · Science Translational Medicine · 2020 · 80 citations · Full text

FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons

Julia Higelin, Maria Demestre, Stefan Putz et al. · Frontiers in Cellular Neuroscience · 2016 · 77 citations · Full text