Gotthold Barbi
University Hospital Ulm(DE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations, Genetic Syndromes and Imprinting
Most-Cited Works
- → Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features(2014)241 cited
- 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.(1992)
- → NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons(2018)92 cited
- → Familial pericentric inversion of chromosome 12(1986)84 cited
- → Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles(2020)80 cited
- → FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons(2016)78 cited
- → Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2‐22.3 with a highly variable phenotype in female carriers(2006)72 cited