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David N. Cooper
David N. Cooper
Professor of Human Molecular Genetics, Cardiff University, UK
Preverjeni e-poštni naslov na cardiff.ac.uk - Domača stran
Naslov
Navedeno
Navedeno
Leto
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
101492016
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
87352010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82282012
MutationTaster2: mutation prediction for the deep-sequencing age
JM Schwarz, DN Cooper, M Schuelke, D Seelow
Nature methods 11 (4), 361-362, 2014
35442014
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
25112004
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
20922003
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
18831996
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
1735*2021
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
16471992
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
14732007
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
14492014
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
14312017
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
13572012
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
1313*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
12692013
The CpG dinucleotide and human genetic disease
DN Cooper, H Youssoufian
Human genetics 78, 151-155, 1988
11931988
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
11592008
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
9072008
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
8972009
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
8672012
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