David N. Cooper
David N. Cooper
Professor of Human Molecular Genetics, Cardiff University, UK
Η διεύθυνση ηλεκτρονικού ταχυδρομείου έχει επαληθευτεί στον τομέα cardiff.ac.uk - Αρχική σελίδα
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A map of human genome variation from population-scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
71682010
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
68372016
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56-65, 2012
66532012
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
RA Gibbs, L Pachter
Nature 428 (6982), 493-521, 2004
21642004
MutationTaster2: mutation prediction for the deep-sequencing age
JM Schwarz, DN Cooper, M Schuelke, D Seelow
Nature methods 11 (4), 361-362, 2014
20382014
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
17011996
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
15642003
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 (1-2), 41-54, 1992
14821992
Some differences make a difference: Individual dissimilarity and group heterogeneity as correlates of recruitment, promotions, and turnover.
SE Jackson, JF Brett, VI Sessa, DM Cooper, JA Julin, K Peyronnin
Journal of applied psychology 76 (5), 675, 1991
13241991
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
11792007
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), 1-9, 2014
11002014
The human gene mutation database: 2008 update
PD Stenson, M Mort, EV Ball, K Howells, AD Phillips, NST Thomas, ...
Genome medicine 1 (1), 1-6, 2009
1084*2009
The CpG dinucleotide and human genetic disease
DN Cooper, H Youssoufian
Human genetics 78 (2), 151-155, 1988
10781988
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
10502012
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
10172008
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
7142013
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 (6), 665-677, 2017
6992017
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
6932009
Insights into hominid evolution from the gorilla genome sequence
A Scally, JY Dutheil, LDW Hillier, GE Jordan, I Goodhead, J Herrero, ...
Nature 483 (7388), 169-175, 2012
6592012
Meiotic prophase arrest with failure of chromosome synapsis in mice deficient for Dmc1, a germline-specific RecA homolog
DL Pittman, J Cobb, KJ Schimenti, LA Wilson, DM Cooper, E Brignull, ...
Molecular cell 1 (5), 697-705, 1998
5951998
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