Author

Frances A Bu'Lock

University of LeicesterORCID 0000-0001-8437-017XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

J. David BrookiD· 2 shared Jeroen BreckpotiD· 2 shared Alejandro SifrimiD· 1 shared Alex Vincent PostmaiD· 1 shared Allan Daly· 1 shared Amilcar Pérez-RiveroliD· 1 shared Ana TöpfiD· 1 shared Anna WilsdoniD· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

J. David BrookORCID

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2 papers

Recent·Most cited

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedJun 2, 2026

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study

Enrique Audain, Anna Wilsdon, Gregor Dombrowsky…·Marc‐Phillip Hitz

This study identifies rare variants and digenic interactions associated with congenital heart disease using a large-scale exome case-control analysis.

5 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintApr 13, 2018

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Donna J. Page, Matthieu J. Miossec, Simon G. Williams…·Bernard D. Keavney

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.

DOI 10.1101/300905

humanwhole-exome sequencing

𝕏 PostBluesky