# Jane A. Hurst

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/jane-a-hurst/

## Facts

| Field | Value |
| --- | --- |
| Citations | 18,958 |
| Field | Genomics and Rare Diseases |
| h-index | 60 |
| i10-index | 118 |
| Last Known Institution | Southampton Hospital |
| OpenAlex ID | https://openalex.org/A5113601623 |
| Works | 454 |

## Researcher papers

- [Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease](https://scholariq.org/papers/comprehensive-rare-variant-analysis-via-whole-genome-sequencing-to-determine-the/)
- [High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies](https://scholariq.org/papers/high-rate-of-recurrent-de-novo-mutations-in-developmental-and-epileptic/)
- [Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations](https://scholariq.org/papers/heterozygous-mutations-of-otx2-cause-severe-ocular-malformations/)
- [Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism](https://scholariq.org/papers/genetic-heterogeneity-in-cornelia-de-lange-syndrome-cdls-and-cdls-like/)

## Researcher topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Prenatal Screening and Diagnostics](https://scholariq.org/topics/prenatal-screening-and-diagnostics/)
- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)

## Researcher university

- [Southampton Hospital](https://scholariq.org/institutions/southampton-hospital/)

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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.