| The complete genome sequence of a Neanderthal from the Altai Mountains K Prüfer, F Racimo, N Patterson, F Jay, S Sankararaman, S Sawyer, ... Nature 505 (7481), 43-49, 2014 | 2470 | 2014 |
| A high-coverage genome sequence from an archaic Denisovan individual M Meyer, M Kircher, MT Gansauge, H Li, F Racimo, S Mallick, ... Science 338 (6104), 222-226, 2012 | 2233 | 2012 |
| Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions JN Burton, A Adey, RP Patwardhan, R Qiu, JO Kitzman, J Shendure Nature biotechnology 31 (12), 1119-1125, 2013 | 1373 | 2013 |
| Genome evolution in the allotetraploid frog Xenopus laevis AM Session, Y Uno, T Kwon, JA Chapman, A Toyoda, S Takahashi, ... Nature 538 (7625), 336-343, 2016 | 983 | 2016 |
| Personalized copy number and segmental duplication maps using next-generation sequencing C Alkan, JM Kidd, T Marques-Bonet, G Aksay, F Antonacci, F Hormozdiari, ... Nature genetics 41 (10), 1061-1067, 2009 | 977 | 2009 |
| Diversity of human copy number variation and multicopy genes PH Sudmant, JO Kitzman, F Antonacci, C Alkan, M Malig, A Tsalenko, ... Science 330 (6004), 641-646, 2010 | 820 | 2010 |
| Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species KR Bradnam, JN Fass, A Alexandrov, P Baranay, M Bechner, I Birol, ... Gigascience 2 (1), 2047-217X-2-10, 2013 | 815 | 2013 |
| Biobank-driven genomic discovery yields new insight into atrial fibrillation biology JB Nielsen, RB Thorolfsdottir, LG Fritsche, W Zhou, MW Skov, SE Graham, ... Nature genetics 50 (9), 1234-1239, 2018 | 699 | 2018 |
| Fragment length of circulating tumor DNA HR Underhill, JO Kitzman, S Hellwig, NC Welker, R Daza, DN Baker, ... PLoS genetics 12 (7), e1006162, 2016 | 675 | 2016 |
| Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition A Adey, HG Morrison, Asan, X Xun, JO Kitzman, EH Turner, B Stackhouse, ... Genome biology 11, 1-17, 2010 | 653 | 2010 |
| Maize inbreds exhibit high levels of copy number variation (CNV) and presence/absence variation (PAV) in genome content NM Springer, K Ying, Y Fu, T Ji, CT Yeh, Y Jia, W Wu, T Richmond, ... PLoS genetics 5 (11), e1000734, 2009 | 603 | 2009 |
| Determinants of targeting by endogenous and exogenous microRNAs and siRNAs CB Nielsen, N Shomron, R Sandberg, E Hornstein, J Kitzman, CB Burge Rna 13 (11), 1894-1910, 2007 | 546 | 2007 |
| Inherited causes of clonal haematopoiesis in 97,691 whole genomes AG Bick, JS Weinstock, SK Nandakumar, CP Fulco, EL Bao, SM Zekavat, ... Nature 586 (7831), 763-768, 2020 | 532 | 2020 |
| Noninvasive whole-genome sequencing of a human fetus JO Kitzman, MW Snyder, M Ventura, AP Lewis, R Qiu, LVE Simmons, ... Science translational medicine 4 (137), 137ra76-137ra76, 2012 | 523 | 2012 |
| The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line A Adey, JN Burton, JO Kitzman, JB Hiatt, AP Lewis, BK Martin, R Qiu, ... Nature 500 (7461), 207-211, 2013 | 420 | 2013 |
| Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing S Amini, D Pushkarev, L Christiansen, E Kostem, T Royce, C Turk, ... Nature genetics 46 (12), 1343-1349, 2014 | 383 | 2014 |
| Variant interpretation: functional assays to the rescue LM Starita, N Ahituv, MJ Dunham, JO Kitzman, FP Roth, G Seelig, ... The American Journal of Human Genetics 101 (3), 315-325, 2017 | 374 | 2017 |
| Poxviruses deploy genomic accordions to adapt rapidly against host antiviral defenses NC Elde, SJ Child, MT Eickbush, JO Kitzman, KS Rogers, J Shendure, ... Cell 150 (4), 831-841, 2012 | 357 | 2012 |
| Massively parallel functional analysis of BRCA1 RING domain variants LM Starita, DL Young, M Islam, JO Kitzman, J Gullingsrud, RJ Hause, ... Genetics 200 (2), 413-422, 2015 | 346 | 2015 |
| Regional isolation drives bacterial diversification within cystic fibrosis lungs P Jorth, BJ Staudinger, X Wu, KB Hisert, H Hayden, J Garudathri, ... Cell host & microbe 18 (3), 307-319, 2015 | 333 | 2015 |
