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CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing A Abyzov, AE Urban, M Snyder, M Gerstein Genome research 21 (6), 974-984, 2011 | 1509 | 2011 |
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 | 1478 | 2007 |
Global identification of human transcribed sequences with genome tiling arrays P Bertone, V Stolc, TE Royce, JS Rozowsky, AE Urban, X Zhu, JL Rinn, ... Science 306 (5705), 2242-2246, 2004 | 1293 | 2004 |
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 | 1212 | 2011 |
Variation in transcription factor binding among humans M Kasowski, F Grubert, C Heffelfinger, M Hariharan, A Asabere, ... science 328 (5975), 232-235, 2010 | 691 | 2010 |
The NASA Twins Study: A multidimensional analysis of a year-long human spaceflight FE Garrett-Bakelman, M Darshi, SJ Green, RC Gur, L Lin, BR Macias, ... Science 364 (6436), eaau8650, 2019 | 681 | 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 | 646 | 2011 |
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals A Battle, S Mostafavi, X Zhu, JB Potash, MM Weissman, C McCormick, ... Genome research, 2013 | 622 | 2013 |
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies JO Korbel, T Tirosh-Wagner, AE Urban, XN Chen, M Kasowski, L Dai, ... Proceedings of the National Academy of Sciences 106 (29), 12031-12036, 2009 | 440 | 2009 |
Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells A Abyzov, J Mariani, D Palejev, Y Zhang, MS Haney, L Tomasini, ... Nature 492 (7429), 438-442, 2012 | 420 | 2012 |
Structural variation in the sequencing era SS Ho, AE Urban, RE Mills Nature Reviews Genetics, 1-19, 2019 | 328 | 2019 |
A comprehensive map of mobile element insertion polymorphisms in humans C Stewart, D Kural, MP Strömberg, JA Walker, MK Konkel, AM Stütz, ... PLoS genetics 7 (8), e1002236, 2011 | 307 | 2011 |
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy J Winkelmann, L Lin, B Schormair, BR Kornum, J Faraco, G Plazzi, ... Human molecular genetics 21 (10), 2205-2210, 2012 | 240 | 2012 |
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High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays AE Urban, JO Korbel, R Selzer, T Richmond, A Hacker, GV Popescu, ... Proceedings of the National Academy of Sciences 103 (12), 4534-4539, 2006 | 184 | 2006 |
Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history PM Kim, HYK Lam, AE Urban, JO Korbel, J Affourtit, F Grubert, X Chen, ... Genome research 18 (12), 1865-1874, 2008 | 179 | 2008 |
Extensive genetic variation in somatic human tissues M O’Huallachain, KJ Karczewski, SM Weissman, AE Urban, MP Snyder Proceedings of the National Academy of Sciences 109 (44), 18018-18023, 2012 | 170 | 2012 |