Author

Stephen F. Fitzgerald

Wellcome Sanger InstituteORCID 0000-0001-5025-3733Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Stephen F. Fitzgerald1 paper

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Adam FrankishiD· 2 shared Jennifer HarrowiD· 2 shared José M. GonzáleziD· 2 shared Aida Ferreiro-IglesiasiD· 1 shared Akihiko FukagawaiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Algirdas ŽalimasiD· 1 shared Andrew R. J. LawsoniD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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2 shared papersGenomics

Adam FrankishORCID

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3 papers

Recent·Most cited

GenomicsbioRxivPreprintApr 9, 2026

Systemic mutagen exposures reported by normal kidney cell genomes

Yichen Wang, W. Knight, Aida Ferreiro-Iglesias…·Michael R. Stratton

The paper identifies mutational signatures in normal kidney cells from multiple countries, revealing exposure to exogenous mutagens including aristolochic acids and unknown agents prevalent in Japan.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsBMC GenomicsPeer-reviewedMar 3, 2020

Expert Curation of the Human and Mouse Olfactory Receptor Gene Repertoires Identifies Conserved Coding Regions Split Across Two Exons

If Barnes, Ximena Ibarra-Soria, Stephen F. Fitzgerald…·Adam Frankish

57 citations

𝕏 PostBluesky

GenomicsbioRxivPreprintMay 30, 2019

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

Charles A. Steward, Jolien Roovers, Marie‐Marthe Suner…·Adam Frankish

The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.

DOI 10.1101/648576

humanbulk RNA-seq

𝕏 PostBluesky