# Hélène Dollfus

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/helene-dollfus/

## Facts

| Field | Value |
| --- | --- |
| Citations | 19,756 |
| Field | Genetic and Kidney Cyst Diseases |
| h-index | 76 |
| i10-index | 229 |
| Last Known Institution | Inserm |
| OpenAlex ID | https://openalex.org/A5066070904 |
| ORCID iD | https://orcid.org/0000-0002-2249-895X |
| Works | 373 |

## Researcher papers

- [Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources](https://scholariq.org/papers/expansion-of-the-human-phenotype-ontology-hpo-knowledge-base-and-resources/)
- [Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis](https://scholariq.org/papers/retinal-layer-segmentation-in-multiple-sclerosis-a-systematic-review-and-meta/)
- [Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling](https://scholariq.org/papers/exome-capture-reveals-znf423-and-cep164-mutations-linking-renal-ciliopathies-to/)
- [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/)
- [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/)
- [SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations](https://scholariq.org/papers/slc26a4-gene-is-frequently-involved-in-nonsyndromic-hearing-impairment-with/)
- [CEP152 is a genome maintenance protein disrupted in Seckel syndrome](https://scholariq.org/papers/cep152-is-a-genome-maintenance-protein-disrupted-in-seckel-syndrome/)
- [Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness](https://scholariq.org/papers/whole-exome-sequencing-identifies-mutations-in-gpr179-leading-to-autosomal/)

## Researcher topics

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Retinal Development and Disorders](https://scholariq.org/topics/retinal-development-and-disorders/)
- [Hedgehog Signaling Pathway Studies](https://scholariq.org/topics/hedgehog-signaling-pathway-studies/)
- [Retinal Diseases and Treatments](https://scholariq.org/topics/retinal-diseases-and-treatments/)

## Researcher university

- [Inserm](https://scholariq.org/institutions/inserm/)

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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.