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Matthew Hurles
Matthew Hurles
Director, Senior Group Leader in Human Genetics, Wellcome Sanger Institute
Verified email at sanger.ac.uk
Title
Cited by
Cited by
Year
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
87962010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82802012
Global variation in copy number in the human genome
R Redon, S Ishikawa, KR Fitch, L Feuk, GH Perry, TD Andrews, H Fiegler, ...
nature 444 (7118), 444-454, 2006
54292006
Accurate whole human genome sequencing using reversible terminator chemistry
DR Bentley, S Balasubramanian, HP Swerdlow, GP Smith, J Milton, ...
nature 456 (7218), 53-59, 2008
50552008
Cerebral organoids model human brain development and microcephaly
MA Lancaster, M Renner, CA Martin, D Wenzel, LS Bicknell, ME Hurles, ...
Nature 501 (7467), 373-379, 2013
48312013
Origins and functional impact of copy number variation in the human genome
DF Conrad, D Pinto, R Redon, L Feuk, O Gokcumen, Y Zhang, J Aerts, ...
Nature 464 (7289), 704-712, 2010
22532010
Relative impact of nucleotide and copy number variation on gene expression phenotypes
BE Stranger, MS Forrest, M Dunning, CE Ingle, C Beazley, N Thorne, ...
Science 315 (5813), 848-853, 2007
20782007
Paired-end mapping reveals extensive structural variation in the human genome
JO Korbel, AE Urban, JP Affourtit, B Godwin, F Grubert, JF Simons, ...
Science 318 (5849), 420-426, 2007
15292007
Copy number variation in human health, disease, and evolution
F Zhang, W Gu, ME Hurles, JR Lupski
Annual review of genomics and human genetics 10, 451-481, 2009
14042009
The DNA sequence of the human X chromosome
MT Ross, DV Grafham, AJ Coffey, S Scherer, K McLay, D Muzny, ...
Nature 434 (7031), 325-337, 2005
13922005
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
13722012
Mapping copy number variation by population-scale genome sequencing
RE Mills, K Walter, C Stewart, RE Handsaker, K Chen, C Alkan, A Abyzov, ...
Nature 470 (7332), 59-65, 2011
12852011
Copy number variation: new insights in genome diversity
JL Freeman, GH Perry, L Feuk, R Redon, SA McCarroll, DM Altshuler, ...
Genome research 16 (8), 949-961, 2006
11642006
Human evolutionary genetics: origins, peoples and disease
M Jobling, C Tyler-Smith
Garland Science, 2019
11302019
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
PJ Campbell, PJ Stephens, ED Pleasance, S O'Meara, H Li, T Santarius, ...
Nature genetics 40 (6), 722-729, 2008
9802008
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Nature 464 (7289), 713-720, 2010
9352010
Timing, rates and spectra of human germline mutation
R Rahbari, A Wuster, SJ Lindsay, RJ Hardwick, LB Alexandrov, S Al Turki, ...
Nature genetics 48 (2), 126-133, 2016
9262016
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8922017
A high-resolution survey of deletion polymorphism in the human genome
DF Conrad, TD Andrews, NP Carter, ME Hurles, JK Pritchard
Nature genetics 38 (1), 75-81, 2006
8732006
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
CF Wright, TW Fitzgerald, WD Jones, S Clayton, JF McRae, ...
The Lancet 385 (9975), 1305-1314, 2015
8262015
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