Carsten Bergmann
Genetikum(DE)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Renal and related cancers, Genetic Syndromes and Imprinting, Renal Diseases and Glomerulopathies, Biomedical Research and Pathophysiology
Most-Cited Works
- → Polycystic kidney disease(2018)757 cited
- → PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats(2002)508 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum(2011)376 cited
- → Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta(2011)359 cited
- → Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening(2015)350 cited
- → Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)(2005)344 cited
- → Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia(2008)330 cited
- → Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy(2010)318 cited
- → A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies(2009)267 cited