| Next-generation DNA sequencing J Shendure, H Ji Nature biotechnology 26 (10), 1135, 2008 | 4144 | 2008 |
| Exome sequencing identifies the cause of a mendelian disorder SB Ng, KJ Buckingham, C Lee, AW Bigham, HK Tabor, KM Dent, CD Huff, ... Nature genetics 42 (1), 30, 2010 | 1881 | 2010 |
| A general framework for estimating the relative pathogenicity of human genetic variants M Kircher, DM Witten, P Jain, BJ O'roak, GM Cooper, J Shendure Nature genetics 46 (3), 310, 2014 | 1831 | 2014 |
| Targeted capture and massively parallel sequencing of 12 human exomes SB Ng, EH Turner, PD Robertson, SD Flygare, AW Bigham, C Lee, ... Nature 461 (7261), 272, 2009 | 1819 | 2009 |
| Accurate multiplex polony sequencing of an evolved bacterial genome J Shendure, GJ Porreca, NB Reppas, X Lin, JP McCutcheon, ... Science 309 (5741), 1728-1732, 2005 | 1586 | 2005 |
| Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations BJ O’Roak, L Vives, S Girirajan, E Karakoc, N Krumm, BP Coe, R Levy, ... Nature 485 (7397), 246, 2012 | 1418 | 2012 |
| Exome sequencing as a tool for Mendelian disease gene discovery MJ Bamshad, SB Ng, AW Bigham, HK Tabor, MJ Emond, DA Nickerson, ... Nature Reviews Genetics 12 (11), 745, 2011 | 1327 | 2011 |
| Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome SB Ng, AW Bigham, KJ Buckingham, MC Hannibal, MJ McMillin, ... Nature genetics 42 (9), 790, 2010 | 1097 | 2010 |
| 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 | 1036 | 2012 |
| Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz, S Girirajan, ... Nature genetics 43 (6), 585, 2011 | 991 | 2011 |
| 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, 2014 | 959 | 2014 |
| Analysis of genetic inheritance in a family quartet by whole-genome sequencing JC Roach, G Glusman, AFA Smit, CD Huff, R Hubley, PT Shannon, ... Science 328 (5978), 636-639, 2010 | 926 | 2010 |
| Target-enrichment strategies for next-generation sequencing L Mamanova, AJ Coffey, CE Scott, I Kozarewa, EH Turner, A Kumar, ... Nature methods 7 (2), 111, 2010 | 874 | 2010 |
| The contribution of de novo coding mutations to autism spectrum disorder I Iossifov, BJ O’roak, SJ Sanders, M Ronemus, N Krumm, D Levy, ... Nature 515 (7526), 216, 2014 | 782 | 2014 |
| Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders BJ O’Roak, L Vives, W Fu, JD Egertson, IB Stanaway, IG Phelps, G Carvill, ... Science 338 (6114), 1619-1622, 2012 | 709 | 2012 |
| Guidelines for investigating causality of sequence variants in human disease DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ... Nature 508 (7497), 469, 2014 | 705 | 2014 |
| A three-dimensional model of the yeast genome Z Duan, M Andronescu, K Schutz, S McIlwain, YJ Kim, C Lee, J Shendure, ... Nature 465 (7296), 363, 2010 | 686 | 2010 |
| Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer M Peifer, L Fernández-Cuesta, ML Sos, J George, D Seidel, LH Kasper, ... Nature genetics 44 (10), 1104, 2012 | 669 | 2012 |
| Advanced sequencing technologies: methods and goals J Shendure, RD Mitra, C Varma, GM Church Nature Reviews Genetics 5 (5), 335, 2004 | 663 | 2004 |
| Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants W Fu, TD O’connor, G Jun, HM Kang, G Abecasis, SM Leal, S Gabriel, ... Nature 493 (7431), 216, 2013 | 647 | 2013 |
