Concepedia

G. Jawahar Swaminathan

GJ

28

Publications

3.3K

Citations

25

H-Index

1999

Active since

Affiliations

University of Bath(Current)

Wellcome Sanger Institute

European Bioinformatics Institute

University of Edinburgh

University of Oxford

G. Jawahar Swaminathan is an author at University of Bath specializing in medicine, genetics, and genomics.

ORCID

Top concepts

Publications per year

1999–2022

28

Publications

28

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Caroline F. Wright, Tomas Fitzgerald, Wendy D. Jones et al. · The Lancet · 2014 · 785 citations · Full text

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 468 citations · Full text

, , +21

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

Eugene Bragin, Eleni Anthippi Chatzimichali, Caroline F. Wright et al. · Nucleic Acids Research · 2013 · 225 citations · Full text

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Saeed Al Turki, Ashok Kumar Manickaraj, Catherine L. Mercer et al. · The American Journal of Human Genetics · 2014 · 185 citations · Full text

OneDep: Unified wwPDB System for Deposition, Biocuration, and Validation of Macromolecular Structures in the PDB Archive

Jasmine Young, John Westbrook, Zukang Feng et al. · Structure · 2017 · 166 citations · Full text

, , +6

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