| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8231 | 2012 |
| 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), 272-276, 2009 | 2630 | 2009 |
| 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), 30-35, 2010 | 2521 | 2010 |
| 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), 745-755, 2011 | 2152 | 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 | 1878 | 2012 |
| 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), 790-793, 2010 | 1607 | 2010 |
| Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data A Bigham, M Bauchet, D Pinto, X Mao, JM Akey, R Mei, SW Scherer, ... PLoS genetics 6 (9), e1001116, 2010 | 651 | 2010 |
| Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data A Bigham, M Bauchet, D Pinto, X Mao, JM Akey, R Mei, SW Scherer, ... PLoS genetics 6 (9), e1001116, 2010 | 651 | 2010 |
| 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 |
| Human high-altitude adaptation: forward genetics meets the HIF pathway AW Bigham, FS Lee Genes & development 28 (20), 2189-2204, 2014 | 317 | 2014 |
| A genomewide admixture mapping panel for Hispanic/Latino populations X Mao, AW Bigham, R Mei, G Gutierrez, KM Weiss, TD Brutsaert, ... The American Journal of Human Genetics 80 (6), 1171-1178, 2007 | 283 | 2007 |
| Development of a panel of genome-wide ancestry informative markers to study admixture throughout the Americas JM Galanter, JC Fernandez-Lopez, CR Gignoux, J Barnholtz-Sloan, ... PLoS genetics 8 (3), e1002554, 2012 | 281 | 2012 |
| Identifying positive selection candidate loci for high-altitude adaptation in Andean populations AW Bigham, X Mao, R Mei, T Brutsaert, MJ Wilson, CG Julian, EJ Parra, ... Human genomics 4, 1-12, 2009 | 250 | 2009 |
| Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol LA Lange, Y Hu, H Zhang, C Xue, EM Schmidt, ZZ Tang, C Bizon, ... The American Journal of Human Genetics 94 (2), 233-245, 2014 | 236 | 2014 |
| Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome MC Hannibal, KJ Buckingham, SB Ng, JE Ming, AE Beck, MJ McMillin, ... American Journal of Medical Genetics Part A 155 (7), 1511-1516, 2011 | 227 | 2011 |
| Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation M Edwards, A Bigham, J Tan, S Li, A Gozdzik, K Ross, L Jin, EJ Parra PLoS genetics 6 (3), e1000867, 2010 | 158 | 2010 |
| Andean and Tibetan patterns of adaptation to high altitude AW Bigham, MJ Wilson, CG Julian, M Kiyamu, E Vargas, F Leon‐Velarde, ... American Journal of Human Biology 25 (2), 190-197, 2013 | 156 | 2013 |
| Augmented uterine artery blood flow and oxygen delivery protect Andeans from altitude-associated reductions in fetal growth CG Julian, MJ Wilson, M Lopez, H Yamashiro, W Tellez, A Rodriguez, ... American Journal of Physiology-Regulatory, Integrative and Comparative …, 2009 | 138 | 2009 |
| Host genetic risk factors for West Nile virus infection and disease progression AW Bigham, KJ Buckingham, S Husain, MJ Emond, KM Bofferding, ... PloS one 6 (9), e24745, 2011 | 136 | 2011 |
| Maternal PRKAA1 and EDNRA genotypes are associated with birth weight, and PRKAA1 with uterine artery diameter and metabolic homeostasis at high altitude AW Bigham, CG Julian, MJ Wilson, E Vargas, VA Browne, MD Shriver, ... Physiological Genomics 46 (18), 687-697, 2014 | 105 | 2014 |
