Author

Joseph Gafton

Queen Mary University of London

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Benjamin M. JacobsiD· 2 shared Claudia LangenbergiD· 2 shared Daniel G. MacArthuriD· 2 shared David A. van HeeliD· 2 shared Eamonn Richard MaheriD· 2 shared Georgios KalantzisiD· 2 shared Hilary C. MartiniD· 2 shared Iaroslav PopoviD· 2 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Benjamin M. JacobsORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

Hye In Kim, Christopher DeBoever, Klaudia Walter, Georgios Kalantzis, Chen Li, Sahar V. Mozaffari, Kousik Kundu, Benjamin M. Jacobs, Pedrum Mohammadi‐Shemirani, Anthony M. Musolf, Jonathan Davitte, Melis A. Aksit, Joseph Gafton, Katrina A. Catalano, Adem Y. Dawed, , Hilary C. Martin

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

Nature Genetics · Mar 27, 2026Peer-reviewedGenetic & Genomic Medicine

A Genes & Health pilot recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease

Maria Constantinides, Joseph Gafton, Ana Cristina Angel Garcia, Eamonn Richard Maher, Shabana Chaudhary, Karen A. Hunt, Shapna Hussain, Kamrul Islam, Mohammed Bodrul Mazid, Elizabeth Owor, Jessry Russell, Nishat Safa, John Solly, Marie Spreckley, David A. van Heel, , Upkar S. Gill

This pilot study identifies British South Asians at high risk of cholestatic liver disease through genetic and phenotypic recall, finding 66.7% of participants had undetected liver disease.

Communications Medicine · Dec 23, 2025Peer-reviewedGenetic & Genomic Medicine