| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 14571* | 2015 |
| A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010 | 8744 | 2010 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8238 | 2012 |
| 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 | 2345 | 2015 |
| Classical nuclear localization signals: definition, function, and interaction with importin α A Lange, RE Mills, CJ Lange, M Stewart, SE Devine, AH Corbett Journal of Biological Chemistry 282 (8), 5101-5105, 2007 | 1431 | 2007 |
| 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 | 1358 | 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 | 1273 | 2011 |
| An initial map of insertion and deletion (INDEL) variation in the human genome RE Mills, CT Luttig, CE Larkins, A Beauchamp, C Tsui, WS Pittard, ... Genome research 16 (9), 1182-1190, 2006 | 852 | 2006 |
| Multi-platform discovery of haplotype-resolved structural variation in human genomes MJP Chaisson, AD Sanders, X Zhao, A Malhotra, D Porubsky, T Rausch, ... Nature communications 10 (1), 1784, 2019 | 752 | 2019 |
| Demographic history and rare allele sharing among human populations S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ... Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011 | 706 | 2011 |
| Natural mutagenesis of human genomes by endogenous retrotransposons RC Iskow, MT McCabe, RE Mills, S Torene, WS Pittard, AF Neuwald, ... Cell 141 (7), 1253-1261, 2010 | 672 | 2010 |
| Which transposable elements are active in the human genome? RE Mills, EA Bennett, RC Iskow, SE Devine Trends in genetics 23 (4), 183-191, 2007 | 573 | 2007 |
| CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome PK Todd, SY Oh, A Krans, F He, C Sellier, M Frazer, AJ Renoux, K Chen, ... Neuron 78 (3), 440-455, 2013 | 496 | 2013 |
| Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants D Pinto, K Darvishi, X Shi, D Rajan, D Rigler, T Fitzgerald, AC Lionel, ... Nature biotechnology 29 (6), 512-520, 2011 | 476 | 2011 |
| Small insertions and deletions (INDELs) in human genomes JM Mullaney, RE Mills, WS Pittard, SE Devine Human molecular genetics 19 (R2), R131-R136, 2010 | 461 | 2010 |
| Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel O Delaneau, J Marchini Nature communications 5 (1), 3934, 2014 | 434 | 2014 |
| Haplotype-resolved diverse human genomes and integrated analysis of structural variation P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ... Science 372 (6537), eabf7117, 2021 | 432 | 2021 |
| Structural variation in the sequencing era SS Ho, AE Urban, RE Mills Nature Reviews Genetics 21 (3), 171-189, 2020 | 425 | 2020 |
| Integrative annotation of variants from 1092 humans: application to cancer genomics E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang, T Lappalainen, A Sboner, ... Science 342 (6154), 1235587, 2013 | 423 | 2013 |
| High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios M Byrska-Bishop, US Evani, X Zhao, AO Basile, HJ Abel, AA Regier, ... Cell 185 (18), 3426-3440. e19, 2022 | 419 | 2022 |
