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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
87172010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82132012
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
53782006
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
49852008
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
46852013
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
22392010
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
20602007
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
15222007
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
13772009
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
13762005
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
13482012
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
12672011
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
11452006
Human evolutionary genetics: origins, peoples and disease
M Jobling, C Tyler-Smith
Garland Science, 2019
11202019
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
9752008
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
9272010
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
9042016
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
8672006
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8662017
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
8132015
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