# Jonathan Stephens

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/jonathan-stephens/

## Facts

| Field | Value |
| --- | --- |
| Citations | 25,019 |
| Field | Genetic Associations and Epidemiology |
| h-index | 67 |
| i10-index | 125 |
| Last Known Institution | NHS Blood and Transplant |
| OpenAlex ID | https://openalex.org/A5064571261 |
| ORCID iD | https://orcid.org/0000-0003-2020-9330 |
| Works | 188 |

## Researcher papers

- [SARS-CoV-2 evolution during treatment of chronic infection](https://scholariq.org/papers/sars-cov-2-evolution-during-treatment-of-chronic-infection/)
- [Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls](https://scholariq.org/papers/genome-wide-association-study-of-cnvs-in-16-000-cases-of-eight-common-diseases/)
- [Whole-genome sequencing of patients with rare diseases in a national health system](https://scholariq.org/papers/whole-genome-sequencing-of-patients-with-rare-diseases-in-a-national-health/)
- [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/)
- [Whole-genome sequencing of a sporadic primary immunodeficiency cohort](https://scholariq.org/papers/whole-genome-sequencing-of-a-sporadic-primary-immunodeficiency-cohort/)
- [Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans](https://scholariq.org/papers/loss-of-function-nuclear-factor-b-subunit-1-nfkb1-variants-are-the-most-common/)

## Researcher topics

- [Genetic Associations and Epidemiology](https://scholariq.org/topics/genetic-associations-and-epidemiology/)
- [Platelet Disorders and Treatments](https://scholariq.org/topics/platelet-disorders-and-treatments/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Immunodeficiency and Autoimmune Disorders](https://scholariq.org/topics/immunodeficiency-and-autoimmune-disorders/)
- [Helicobacter pylori-related gastroenterology studies](https://scholariq.org/topics/helicobacter-pylori-related-gastroenterology-studies/)

## Researcher university

- [NHS Blood and Transplant](https://scholariq.org/institutions/nhs-blood-and-transplant/)

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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.