| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 14588* | 2015 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8250 | 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 | 2348 | 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 |
| 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 |
| The SIR2 gene family, conserved from bacteria to humans, functions in silencing, cell cycle progression, and chromosome stability. CB Brachmann, JM Sherman, SE Devine, EE Cameron, L Pillus, ... Genes & development 9 (23), 2888-2902, 1995 | 823 | 1995 |
| 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 | 753 | 2019 |
| 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 | 574 | 2007 |
| Small insertions and deletions (INDELs) in human genomes JM Mullaney, RE Mills, WS Pittard, SE Devine Human molecular genetics 19 (R2), R131-R136, 2010 | 463 | 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 |
| 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 | 420 | 2022 |
| Brain feminization requires active repression of masculinization via DNA methylation BM Nugent, CL Wright, AC Shetty, GE Hodes, KM Lenz, A Mahurkar, ... Nature neuroscience 18 (5), 690-697, 2015 | 404 | 2015 |
| The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology EJ Gardner, VK Lam, DN Harris, NT Chuang, EC Scott, WS Pittard, ... Genome research 27 (11), 1916-1929, 2017 | 324 | 2017 |
| Active Alu retrotransposons in the human genome EA Bennett, H Keller, RE Mills, S Schmidt, JV Moran, O Weichenrieder, ... Genome research 18 (12), 1875-1883, 2008 | 322 | 2008 |
| Natural genetic variation caused by small insertions and deletions in the human genome RE Mills, WS Pittard, JM Mullaney, U Farooq, TH Creasy, AA Mahurkar, ... Genome research 21 (6), 830-839, 2011 | 308 | 2011 |
| A hot L1 retrotransposon evades somatic repression and initiates human colorectal cancer EC Scott, EJ Gardner, A Masood, NT Chuang, PM Vertino, SE Devine Genome research 26 (6), 745-755, 2016 | 285 | 2016 |
| Integration of the yeast retrotransposon Ty1 is targeted to regions upstream of genes transcribed by RNA polymerase III. SE Devine, JD Boeke Genes & development 10 (5), 620-633, 1996 | 264 | 1996 |
