Affiliation: Bioscientia GmbH
- ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopiesCarsten Bergmann
Center for Human Genetics, Bioscientia, Konrad Adenauer Str 17, 55218, Ingelheim, Germany
Pediatr Nephrol 30:15-30. 2015..The parallel analysis of targeted genes considerably increases the detection rate, allows for better interpretation of identified variants, and avoids genetic misdiagnoses. ..
- 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...
- Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafnessTobias Eisenberger
Center for Human Genetics, Ingelheim, Germany
Hum Mutat 35:565-70. 2014..MYO1A seems dispensable for hearing and overall nonessential. MYO1A adds to the list of "erroneous disease genes", which will expand with increasing availability of large-scale sequencing data. ..
- Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expressionValeska Frank
Center for Human Genetics, Bioscientia, Ingelheim 55218, Germany
Hum Mol Genet 22:2177-85. 2013..Taken together, our study demonstrates that NEK8 is essential for organ development and that the complete loss of NEK8 perturbs multiple signalling pathways resulting in a severe early embryonic phenotype...
- Transcriptional complexity in autosomal recessive polycystic kidney diseaseValeska Frank
Center for Human Genetics, Bioscientia, Ingelheim, Germany
Clin J Am Soc Nephrol 9:1729-36. 2014..Functional investigations are considerably hampered by its large size and lack of expression in tissues that are usually available for analysis such as lymphocytes or fibroblasts...
- Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger
Bioscientia Center for Human Genetics, Ingelheim, Germany
PLoS ONE 8:e78496. 2013..Consideration of all variants is indispensable because even truncating mutations may be misleading. ..