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David N. Cooper
David N. Cooper
Professor of Human Molecular Genetics, Cardiff University, UK
在 cardiff.ac.uk 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
Analysis of protein-coding genetic variation in 60,706 humans
M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ...
Nature 536 (7616), 285-291, 2016
102542016
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
87952010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82802012
MutationTaster2: mutation prediction for the deep-sequencing age
JM Schwarz, DN Cooper, M Schuelke, D Seelow
Nature methods 11 (4), 361-362, 2014
35892014
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
University of Utah Weiss Robert B. 14 Dunn Diane M. 14, ...
Nature 428 (6982), 493-521, 2004
25262004
Human Gene Mutation Database (HGMD®): 2003 update
PD Stenson, EV Ball, M Mort, AD Phillips, JA Shiel, NST Thomas, ...
Human mutation 21 (6), 577-581, 2003
21112003
Tocilizumab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial
RECOVERY Collaborative Group
Lancet (London, England) 397 (10285), 1637, 2021
1928*2021
A massive phytoplankton bloom induced by an ecosystem-scale iron fertilization experiment in the equatorial Pacific Ocean
KH Coale, KS Johnson, SE Fitzwater, RM Gordon, S Tanner, FP Chavez, ...
Nature 383 (6600), 495-501, 1996
18871996
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
M Krawczak, J Reiss, DN Cooper
Human genetics 90, 41-54, 1992
16541992
Evolutionary and biomedical insights from the rhesus macaque genome
RA Gibbs, J Rogers, MG Katze, R Bumgarner, GM Weinstock, ER Mardis, ...
science 316 (5822), 222-234, 2007
14802007
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
PD Stenson, M Mort, EV Ball, K Shaw, AD Phillips, DN Cooper
Human genetics 133, 1-9, 2014
14782014
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
PD Stenson, M Mort, EV Ball, K Evans, M Hayden, S Heywood, M Hussain, ...
Human genetics 136, 665-677, 2017
14592017
A systematic survey of loss-of-function variants in human protein-coding genes
DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ...
Science 335 (6070), 823-828, 2012
13702012
The human gene mutation database: 2008 update
PD Stenson, M Mort, EV Ball, K Howells, AD Phillips, NST Thomas, ...
Genome medicine 1, 1-6, 2009
1319*2009
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
HA Shihab, J Gough, DN Cooper, PD Stenson, GLA Barker, KJ Edwards, ...
Human mutation 34 (1), 57-65, 2013
12942013
The CpG dinucleotide and human genetic disease
DN Cooper, H Youssoufian
Human genetics 78, 151-155, 1988
11971988
Use of nucleoside reverse transcriptase inhibitors and risk of myocardial infarction in HIV-infected patients enrolled in the D: A: D study: a multi-cohort collaboration
D: A: D Study Group
The Lancet 371 (9622), 1417-1426, 2008
11712008
Maraviroc for previously treated patients with R5 HIV-1 infection
RM Gulick, J Lalezari, J Goodrich, N Clumeck, E DeJesus, A Horban, ...
New England Journal of Medicine 359 (14), 1429-1441, 2008
9132008
Automated inference of molecular mechanisms of disease from amino acid substitutions
B Li, VG Krishnan, ME Mort, F Xin, KK Kamati, DN Cooper, SD Mooney, ...
Bioinformatics 25 (21), 2744-2750, 2009
9052009
The yak genome and adaptation to life at high altitude
Q Qiu, G Zhang, T Ma, W Qian, J Wang, Z Ye, C Cao, Q Hu, J Kim, ...
Nature genetics 44 (8), 946-949, 2012
8832012
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