| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 14531* | 2015 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8737 | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8228 | 2012 |
| MET Amplification Leads to Gefitinib Resistance in Lung Cancer by Activating ERBB3 Signaling JA Engelman, K Zejnullahu, T Mitsudomi, Y Song, C Hyland, JO Park, ... science 316 (5827), 1039-1043, 2007 | 5412 | 2007 |
| 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 | 5393 | 2006 |
| The zebrafish reference genome sequence and its relationship to the human genome K Howe, MD Clark, CF Torroja, J Torrance, C Berthelot, M Muffato, ... Nature 496 (7446), 498-503, 2013 | 5028 | 2013 |
| Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer SA Tomlins, DR Rhodes, S Perner, SM Dhanasekaran, R Mehra, XW Sun, ... science 310 (5748), 644-648, 2005 | 4807 | 2005 |
| Detection of large-scale variation in the human genome AJ Iafrate, L Feuk, MN Rivera, ML Listewnik, PK Donahoe, Y Qi, ... Nature genetics 36 (9), 949-951, 2004 | 3577 | 2004 |
| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ... The American Journal of Human Genetics 86 (5), 749-764, 2010 | 3116 | 2010 |
| An integrated map of structural variation in 2,504 human genomes PH Sudmant, T Rausch, EJ Gardner, RE Handsaker, A Abyzov, ... Nature 526 (7571), 75-81, 2015 | 2341 | 2015 |
| 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 | 2240 | 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 | 2065 | 2007 |
| Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma LA Garraway, HR Widlund, MA Rubin, G Getz, AJ Berger, S Ramaswamy, ... Nature 436 (7047), 117-122, 2005 | 1783 | 2005 |
| Diet and the evolution of human amylase gene copy number variation GH Perry, NJ Dominy, KG Claw, AS Lee, H Fiegler, R Redon, J Werner, ... Nature genetics 39 (10), 1256-1260, 2007 | 1718 | 2007 |
| 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 | 1272 | 2011 |
| EML4-ALK Fusion Gene and Efficacy of an ALK Kinase Inhibitor in Lung Cancer JP Koivunen, C Mermel, K Zejnullahu, C Murphy, E Lifshits, AJ Holmes, ... Clinical cancer research 14 (13), 4275-4283, 2008 | 1225 | 2008 |
| Preexistence and clonal selection of MET amplification in EGFR mutant NSCLC AB Turke, K Zejnullahu, YL Wu, Y Song, D Dias-Santagata, E Lifshits, ... Cancer cell 17 (1), 77-88, 2010 | 1223 | 2010 |
| 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 | 1151 | 2006 |
| Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs JM Korn, FG Kuruvilla, SA McCarroll, A Wysoker, J Nemesh, S Cawley, ... Nature genetics 40 (10), 1253-1260, 2008 | 940 | 2008 |
| 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 | 930 | 2010 |
