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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 global reference for human genetic variation
A Auton, GR Abecasis, DM Altshuler, RM Durbin, DR Bentley, ...
Nature 526 (7571), 68, 2015
156322015
A map of human genome variation from population scale sequencing
DM Altshuler, ES Lander, L Ambrogio, T Bloom, K Cibulskis, TJ Fennell, ...
Nature, 2010
88772010
An integrated map of genetic variation from 1,092 human genomes
DM Altshuler, RM Durbin, GR Abecasis, DR Bentley, A Chakravarti, ...
Nature 491 (7422), 56, 2012
85032012
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
54892006
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
51352008
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
50742013
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
22892010
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
20862007
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
15512007
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 (1), 451-481, 2009
14472009
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
14112005
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
14072012
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
13062011
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
11782006
Human evolutionary genetics: origins, peoples and disease
M Jobling, C Tyler-Smith
Garland Science, 2019
11462019
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
9892008
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
9672017
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
9462016
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
9432010
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
8782006
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