Author

Shoumo Bhattacharya

Centre for Human GeneticsORCID 0000-0002-5571-0478Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aaron Day-Williams· 1 shared Aileen Reghan FoleyiD· 1 shared Alex Vincent PostmaiD· 1 shared Allan Daly· 1 shared Ana TöpfiD· 1 shared Andrew P. JacksoniD· 1 shared Anna F. DominiczakiD· 1 shared Antonio CiampiiD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

Aaron Day-Williams

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2 papers

Recent·Most cited

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Simon J. Haworth, Chin Yang Shapland, Caroline Hayward, Bram Peter Prins, Janine F. Felix, Carolina Medina‐Gómez, Fernando Rivadeneira, Carol A. Wang, Tarunveer S. Ahluwalia, Martine Vrijheid, Mònica Guxens, Jordi Sunyer, Ioanna Tachmazidou, Klaudia Walter, Valentina Iotchkova, , David K. Jackson

The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.

Nature Communications · Jan 21, 2019Peer-reviewedGenetics

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, Elisavet Fotiou, Richard M. Monaghan, Heather Jane Cordell, Louise Sutcliffe, Ana Töpf, Mathieu Bourgey, Guillaume Bourque, Robert J. M. Eveleigh, Sally L. Dunwoodie, David Scott Winlaw, Shoumo Bhattacharya, Jeroen Breckpot, , 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.

bioRxiv · Apr 13, 2018 · PreprintGenetics