Carsten Bergmann

Summary

Affiliation: Bioscientia GmbH
Country: Germany

Publications

  1. pmc Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
    Tobias Eisenberger
    Bioscientia Center for Human Genetics, Konrad Adenauer Str, 17, Ingelheim 55218, Germany
    Orphanet J Rare Dis 7:59. 2012
  2. pmc Educational paper: ciliopathies
    Carsten Bergmann
    Center for Human Genetics Bioscientia, Konrad Adenauer Str 17, 55218 Ingelheim, Germany
    Eur J Pediatr 171:1285-300. 2012
  3. ncbi request reprint 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 matter
    Carsten Bergmann
    Bioscientia, Center for Human Genetics, Ingelheim, Germany
    J Hepatol 56:1201-3. 2012
  4. pmc Mutations in multiple PKD genes may explain early and severe polycystic kidney disease
    Carsten Bergmann
    Center for Human Genetics, Bioscientia, Konrad Adenauer Str 17, 55218 Ingelheim, Germany
    J Am Soc Nephrol 22:2047-56. 2011
  5. ncbi request reprint Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness
    Tobias Eisenberger
    Center for Human Genetics, Ingelheim, Germany
    Hum Mutat 35:565-70. 2014
  6. doi request reprint Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression
    Valeska Frank
    Center for Human Genetics, Bioscientia, Ingelheim 55218, Germany
    Hum Mol Genet 22:2177-85. 2013
  7. pmc Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies
    Tobias Eisenberger
    Bioscientia Center for Human Genetics, Ingelheim, Germany
    PLoS ONE 8:e78496. 2013

Collaborators

Detail Information

Publications7

  1. pmc Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
    Tobias 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...
  2. pmc Educational paper: ciliopathies
    Carsten 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...
  3. ncbi request reprint 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 matter
    Carsten Bergmann
    Bioscientia, Center for Human Genetics, Ingelheim, Germany
    J Hepatol 56:1201-3. 2012
    ....
  4. pmc Mutations in multiple PKD genes may explain early and severe polycystic kidney disease
    Carsten 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...
  5. ncbi request reprint Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness
    Tobias 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. ..
  6. doi request reprint Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression
    Valeska 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...
  7. pmc Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies
    Tobias 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. ..