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David N. Cooper
David N. Cooper
Professor of Human Molecular Genetics, Cardiff University, UK
Verificeret mail på cardiff.ac.uk - Startside
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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
106152016
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
89212010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
85432012
MutationTaster2: mutation prediction for the deep-sequencing age
JM Schwarz, DN Cooper, M Schuelke, D Seelow
Nature methods 11 (4), 361-362, 2014
37592014
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
25752004
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
21842003
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
2099*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
18981996
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
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
15352017
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
15222014
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
15192007
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
14192012
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
13902013
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
1334*2009
The CpG dinucleotide and human genetic disease
DN Cooper, H Youssoufian
Human genetics 78, 151-155, 1988
12111988
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
11922008
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
9732020
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
9382009
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
9312012
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Artikler 1–20