| A map of human genome variation from population-scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 6737 | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 6237 | 2012 |
| 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 | 4471 | 2006 |
| 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 | 3654 | 2008 |
| Cerebral organoids model human brain development and microcephaly MA Lancaster, M Renner, CA Martin, D Wenzel, LS Bicknell, ME Hurles, ... Nature 501 (7467), 373, 2013 | 1849 | 2013 |
| 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 | 1798 | 2010 |
| 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 | 1729 | 2007 |
| 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 | 1232 | 2007 |
| The DNA sequence of the human X chromosome MT Ross, DV Grafham, AJ Coffey, S Scherer, K McLay, D Muzny, ... Nature 434 (7031), 325, 2005 | 1082 | 2005 |
| 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 | 986 | 2011 |
| 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 | 977 | 2009 |
| 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 | 972 | 2012 |
| Human evolutionary genetics: origins, peoples & disease M Jobling, M Hurles, C Tyler-Smith Garland Science, 2013 | 903 | 2013 |
| 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 | 872 | 2006 |
| 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, 2008 | 861 | 2008 |
| Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls N Craddock, ME Hurles, N Cardin, RD Pearson, V Plagnol, S Robson, ... Nature 464 (7289), 713, 2010 | 783 | 2010 |
| 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 | 776 | 2006 |
| Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language ZH Rosser, T Zerjal, ME Hurles, M Adojaan, D Alavantic, A Amorim, ... The American Journal of Human Genetics 67 (6), 1526-1543, 2000 | 689 | 2000 |
| The genetic legacy of the Mongols T Zerjal, Y Xue, G Bertorelle, RS Wells, W Bao, S Zhu, R Qamar, Q Ayub, ... The American Journal of Human Genetics 72 (3), 717-721, 2003 | 533 | 2003 |
| Large, rare chromosomal deletions associated with severe early-onset obesity EG Bochukova, NI Huang, J Keogh, E Henning, C Purmann, K Blaszczyk, ... Nature 463 (7281), 666-670, 2010 | 523 | 2010 |
