# Helen V. Firth

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/helen-v-firth/

## Facts

| Field | Value |
| --- | --- |
| Citations | 24,506 |
| Field | Genomics and Rare Diseases |
| h-index | 73 |
| i10-index | 166 |
| Last Known Institution | Cambridge University Hospitals NHS Foundation Trust |
| OpenAlex ID | https://openalex.org/A5049698135 |
| ORCID iD | https://orcid.org/0000-0002-6410-0882 |
| Works | 544 |

## Researcher papers

- [A cellular census of human lungs identifies novel cell states in health and in asthma](https://scholariq.org/papers/a-cellular-census-of-human-lungs-identifies-novel-cell-states-in-health-and-in/)
- [The Human Phenotype Ontology in 2017](https://scholariq.org/papers/the-human-phenotype-ontology-in-2017/)
- [The Human Phenotype Ontology in 2024: phenotypes around the world](https://scholariq.org/papers/the-human-phenotype-ontology-in-2024-phenotypes-around-the-world/)
- [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/)
- [Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families](https://scholariq.org/papers/discovery-of-four-recessive-developmental-disorders-using-probabilistic-genotype/)

## 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/)
- [Cancer Genomics and Diagnostics](https://scholariq.org/topics/cancer-genomics-and-diagnostics/)

## Researcher university

- [Cambridge University Hospitals NHS Foundation Trust](https://scholariq.org/institutions/cambridge-university-hospitals-nhs-foundation-trust/)

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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.