# Carsten Bergmann

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/carsten-bergmann/

## Facts

| Field | Value |
| --- | --- |
| Citations | 15,134 |
| Field | Genetic and Kidney Cyst Diseases |
| h-index | 66 |
| i10-index | 181 |
| Last Known Institution | Genetikum |
| OpenAlex ID | https://openalex.org/A5021516367 |
| ORCID iD | 0000-0002-6061-9759 |
| Works | 346 |

## Researcher papers

- [Polycystic kidney disease](https://scholariq.org/papers/polycystic-kidney-disease-2/)
- [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](https://scholariq.org/papers/pkhd1-the-polycystic-kidney-and-hepatic-disease-1-gene-encodes-a-novel-large/)
- [Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome](https://scholariq.org/papers/clinical-and-molecular-phenotype-of-aicardi-goutieres-syndrome/)
- [TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum](https://scholariq.org/papers/ttc21b-contributes-both-causal-and-modifying-alleles-across-the-ciliopathy/)
- [Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta](https://scholariq.org/papers/exome-sequencing-identifies-truncating-mutations-in-human-serpinf1-in-autosomal/)
- [Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening](https://scholariq.org/papers/non-invasive-prenatal-testing-for-aneuploidy-and-beyond-challenges-of/)
- [Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)](https://scholariq.org/papers/clinical-consequences-of-pkhd1-mutations-in-164-patients-with-autosomal/)
- [Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia](https://scholariq.org/papers/loss-of-nephrocystin-3-function-can-cause-embryonic-lethality-meckel-gruber-like/)
- [Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy](https://scholariq.org/papers/candidate-exome-capture-identifies-mutation-of-sdccag8-as-the-cause-of-a-retinal/)
- [A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies](https://scholariq.org/papers/a-common-allele-in-rpgrip1l-is-a-modifier-of-retinal-degeneration-in/)
- [Lifelong effect of therapy in young patients with the <i>COL4A5</i> Alport missense variant p.(Gly624Asp): a prospective cohort study](https://scholariq.org/papers/lifelong-effect-of-therapy-in-young-patients-with-the-i-col4a5-i-alport-missense/)
- [Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort](https://scholariq.org/papers/description-and-cross-sectional-analyses-of-25-880-adults-and-children-in-the-uk/)

## Researcher topics

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Renal Diseases and Glomerulopathies](https://scholariq.org/topics/renal-diseases-and-glomerulopathies/)
- [Biomedical Research and Pathophysiology](https://scholariq.org/topics/biomedical-research-and-pathophysiology/)

## Researcher university

- [Genetikum](https://scholariq.org/institutions/genetikum/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.