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D.N. Cooper

University of Wales Institute Cardiff SG

ORCID iD 0000-0002-8943-8484
1,629
Publications
100,674
Citations
120
H-Index
568
i10-Index
10.74
2yr Mean Cite
-
Cite/Paper
Data combined from OpenAlex + Semantic Scholar. OA = OpenAlex S2 = Semantic Scholar
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Publication & Citation Trends

Most Cited Works

Analysis of protein-coding genetic variation in 60,706 humans OA
Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, Kaitlin E. Samocha, Eric Banks +74 more
Nature 2016
10,263
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz, D.N. Cooper, Markus Schuelke, Dominik Seelow
Nature Methods 2014
3,760
Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update
Peter D. Stenson, Edward V. Ball, Matthew Mort, Andrew D. Phillips, Jacqueline A. Shiel +4 more
Human Mutation 2003
1,857
Galectins. Structure and function of a large family of animal lectins. OA
S H Barondes, D.N. Cooper, Michael A. Gitt, Hakon Leffler
Journal of Biological Chemistry 1994
1,494
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies OA
Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden +4 more
Human Genetics 2017
1,410

Publications

922 total

Venous Thrombosis

D. Cooper, M. Krawczak - Unknown Venue, 2024
Cited by 0 Semantic Scholar

Gene expression across mammalian organ development PDF

Margarida Cardoso-Moreira, Jean Halbert, Delphine Valloton, Britta Velten, Chunyan Chen et al. - Nature, 2019
Cited by 926 OpenAlex

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies PDF

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden et al. - Human Genetics, 2017
Cited by 1,410 OpenAlex

Analysis of protein-coding genetic variation in 60,706 humans PDF

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, Kaitlin E. Samocha, Eric Banks et al. - Nature, 2016
Cited by 10,263 OpenAlex

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

Karthik A. Jagadeesh, Aaron M. Wenger, Mark J. Berger, Harendra Guturu, Peter D. Stenson et al. - Nature Genetics, 2016
Cited by 912 OpenAlex

MutationTaster2: mutation prediction for the deep-sequencing age

Jana Marie Schwarz, D.N. Cooper, Markus Schuelke, Dominik Seelow - Nature Methods, 2014
Cited by 3,760 OpenAlex

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine PDF

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips et al. - Human Genetics, 2013
Cited by 1,373 OpenAlex

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models PDF

Hashem A. Shihab, Julian Gough, D.N. Cooper, Peter D. Stenson, Gary Barker et al. - Human Mutation, 2012
Cited by 1,386 OpenAlex

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes PDF

Daniel G. MacArthur, Suganthi Balasubramanian, Adam Frankish, Ni Huang, James Morris et al. - Science, 2012
Cited by 1,320 OpenAlex

The yak genome and adaptation to life at high altitude PDF

Qiang Qiu, Guojie Zhang, Tao Ma, Wubin Qian, Junyi Wang et al. - Nature Genetics, 2012
Cited by 1,018 OpenAlex

Research Topics

Genomics and Rare Diseases (173) Genomic variations and chromosomal abnormalities (122) RNA and protein synthesis mechanisms (111) RNA modifications and cancer (83) Blood Coagulation and Thrombosis Mechanisms (76)

Frequent Co-Authors

PE
Peter D. Stenson
7 joint publications
MA
Matthew Mort
6 joint publications
ED
Edward V. Ball
4 joint publications
AN
Andrew D. Phillips
4 joint publications
ER
Eric Banks
2 joint publications
ME
Menachem Fromer
2 joint publications

Affiliations

BGI Group (China)
CN 2010 - 2010
Boston College
US 2011 - 2011
Institut polytechnique de Grenoble
FR 2022 - 2022
Broad Institute
US 2015 - 2015
Griffith University
AU 2015 - 2015

External Profiles

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