Prati
David N. Cooper
David N. Cooper
Professor of Human Molecular Genetics, Cardiff University, UK
Potvrđena adresa e-pošte na cardiff.ac.uk - Početna stranica
Naslov
Citirano
Citirano
Godina
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
107152016
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
90392010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
84892012
MutationTaster2: mutation prediction for the deep-sequencing age
JM Schwarz, DN Cooper, M Schuelke, D Seelow
Nature methods 11 (4), 361-362, 2014
38352014
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
2894*2021
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
25622004
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
22092003
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
18951996
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
16701992
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
15732007
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
15512014
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
15452017
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
14342013
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
14272012
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
1336*2009
The CpG dinucleotide and human genetic disease
DN Cooper, H Youssoufian
Human genetics 78, 151-155, 1988
11991988
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
11882008
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
PD Stenson, M Mort, EV Ball, M Chapman, K Evans, L Azevedo, ...
Human genetics 139, 1197-1207, 2020
10092020
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
9472009
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
9402008
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