Affiliation: Bioscientia GmbH
- Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3Tobias Eisenberger
Bioscientia Center for Human Genetics, Konrad Adenauer Str, 17, Ingelheim 55218, Germany
Orphanet J Rare Dis 7:59. 2012..Our study was aimed at the identification of the causative mutation in this USH3-like family...
- Educational paper: ciliopathiesCarsten Bergmann
Center for Human Genetics Bioscientia, Konrad Adenauer Str 17, 55218 Ingelheim, Germany
Eur J Pediatr 171:1285-300. 2012..This is undoubtedly a result of the dynamic development in the field of human genetics and deserves increased attention in genetic counselling and the management of affected families...
- It's not all in the cilium, but on the road to it: genetic interaction network in polycystic kidney and liver diseases and how trafficking and quality control matterCarsten Bergmann
Bioscientia, Center for Human Genetics, Ingelheim, Germany
J Hepatol 56:1201-3. 2012....
- Mutations in multiple PKD genes may explain early and severe polycystic kidney diseaseCarsten Bergmann
Center for Human Genetics, Bioscientia, Konrad Adenauer Str 17, 55218 Ingelheim, Germany
J Am Soc Nephrol 22:2047-56. 2011..Our findings are consistent with a common pathogenesis and dosage theory for PKD and may propose a general concept for the modification of disease expression in other so-called monogenic disorders...