| 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 | 2056 | 2010 |
| 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 | 2051 | 2009 |
| 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 | 1568 | 2011 |
| Evolution and functional impact of rare coding variation from deep sequencing of human exomes JA Tennessen, AW Bigham, TD O’Connor, W Fu, EE Kenny, S Gravel, ... science 337 (6090), 64-69, 2012 | 1453 | 2012 |
| The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility E Gonzalez, H Kulkarni, H Bolivar, A Mangano, R Sanchez, G Catano, ... Science 307 (5714), 1434-1440, 2005 | 1282 | 2005 |
| 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 | 1220 | 2010 |
| 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 | 1037 | 2010 |
| 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 | 787 | 2013 |
| Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome J Celli, P Duijf, BCJ Hamel, M Bamshad, B Kramer, APT Smits, ... Cell 99 (2), 143-153, 1999 | 742 | 1999 |
| Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B ID Krantz, J McCallum, C DeScipio, M Kaur, LA Gillis, D Yaeger, ... Nature genetics 36 (6), 631, 2004 | 654 | 2004 |
| NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome ET Tonkin, TJ Wang, S Lisgo, MJ Bamshad, T Strachan Nature genetics 36 (6), 636, 2004 | 575 | 2004 |
| Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome M Bamshad, RC Lin, DJ Law, WS Watkins, PA Krakowiak, ME Moore, ... Nature genetics 16 (3), 311, 1997 | 552 | 1997 |
| The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data LB Jorde, WS Watkins, MJ Bamshad, ME Dixon, CE Ricker, MT Seielstad, ... The American Journal of Human Genetics 66 (3), 979-988, 2000 | 535 | 2000 |
| Signatures of natural selection in the human genome M Bamshad, SP Wooding Nature Reviews Genetics 4 (2), 99, 2003 | 531 | 2003 |
| Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies S Lee, MJ Emond, MJ Bamshad, KC Barnes, MJ Rieder, DA Nickerson, ... The American Journal of Human Genetics 91 (2), 224-237, 2012 | 500 | 2012 |
| The Simons genome diversity project: 300 genomes from 142 diverse populations S Mallick, H Li, M Lipson, I Mathieson, M Gymrek, F Racimo, M Zhao, ... Nature 538 (7624), 201, 2016 | 456 | 2016 |
| Genetic evidence on the origins of Indian caste populations M Bamshad, T Kivisild, WS Watkins, ME Dixon, CE Ricker, BB Rao, ... Genome research 11 (6), 994-1004, 2001 | 455 | 2001 |
| Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction R Do, NO Stitziel, HH Won, AB Jørgensen, S Duga, PA Merlini, A Kiezun, ... Nature 518 (7537), 102, 2015 | 436 | 2015 |
| The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ... The American Journal of Human Genetics 97 (2), 199-215, 2015 | 400 | 2015 |
| Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63 JA McGrath, PHG Duijf, V Doetsch, AD Irvine, R Waal, KRJ Vanmolkot, ... Human molecular genetics 10 (3), 221-230, 2001 | 388 | 2001 |
