| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 16471 | 2015 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 9032 | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8478 | 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 | 5511 | 2006 |
| 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 | 5301 | 2013 |
| 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 | 5229 | 2008 |
| 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 | 2303 | 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 | 2101 | 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 | 1562 | 2007 |
| 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 | 1483 | 2009 |
| 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 | 1433 | 2005 |
| 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 | 1426 | 2012 |
| 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 | 1328 | 2011 |
| 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 | 1193 | 2006 |
| Human evolutionary genetics: origins, peoples and disease M Jobling, C Tyler-Smith Garland Science, 2019 | 1154 | 2019 |
| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 1022 | 2017 |
| 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 | 1004 | 2008 |
| 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 | 960 | 2016 |
| 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 | 941 | 2010 |
| 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 | 887 | 2015 |
