Publications

• Garcia OA, Arslanian K, Whorf D, Thariath S, Shriver M, Li JZ, Bigham AW. The Legacy of Infectious Disease Exposure on the Genomic Diversity of Indigenous Southern Mexicans.. Genome biology and evolution, 2023.
• Childebayeva A, Harman T, Weinstein J, Day T, Brutsaert TD, Bigham AW. Genome-Wide DNA Methylation Changes Associated With High-Altitude Acclimatization During an Everest Base Camp Trek.. Frontiers in physiology, 2021.
• Childebayeva A, Goodrich JM, Chesterman N, Leon-Velarde F, Rivera-Ch M, Kiyamu M, Brutsaert TD, Bigham AW, Dolinoy DC. Blood lead levels in Peruvian adults are associated with proximity to mining and DNA methylation.. Environment international, 2021.
• Song D, Bigham AW, Lee FS. High-altitude deer mouse hypoxia-inducible factor-2α shows defective interaction with CREB-binding protein.. The Journal of biological chemistry, 2021.
• Childebayeva A, Goodrich JM, Leon-Velarde F, Rivera-Chira M, Kiyamu M, Brutsaert TD, Dolinoy DC, Bigham AW. Genome-Wide Epigenetic Signatures of Adaptive Developmental Plasticity in the Andes.. Genome biology and evolution, 2021.
• Brutsaert TD, Kiyamu M, Revollendo GE, Isherwood JL, Lee FS, Rivera-Ch M, Leon-Velarde F, Ghosh S, Bigham AW. Reply to Liu et al.: The Andean EGLN1 adaptive allele could be a loss of function variant that increases HIF1-α in skeletal muscle.. Proceedings of the National Academy of Sciences of the United States of America, 2020.
• Werren EA, Garcia O, Bigham AW. Identifying adaptive alleles in the human genome: from selection mapping to functional validation.. Human genetics, 2020.
• Song D, Navalsky BE, Guan W, Ingersoll C, Wang T, Loro E, Eeles L, Matchett KB, Percy MJ, Walsby-Tickle J, McCullagh JSO, Medina RJ, Khurana TS, Bigham AW, Lappin TR, Lee FS. Tibetan PHD2, an allele with loss-of-function properties.. Proceedings of the National Academy of Sciences of the United States of America, 2020.
• Brutsaert TD, Kiyamu M, Elias Revollendo G, Isherwood JL, Lee FS, Rivera-Ch M, Leon-Velarde F, Ghosh S, Bigham AW. Association of EGLN1 gene with high aerobic capacity of Peruvian Quechua at high altitude.. Proceedings of the National Academy of Sciences of the United States of America, 2019.
• Childebayeva A, Harman T, Weinstein J, Goodrich JM, Dolinoy DC, Day TA, Bigham AW, Brutsaert TD. DNA Methylation Changes Are Associated With an Incremental Ascent to High Altitude.. Frontiers in genetics, 2019.
• Ghosh S, Kiyamu M, Contreras P, León-Velarde F, Bigham A, Brutsaert TD. Exhaled nitric oxide in ethnically diverse high-altitude native populations: A comparative study.. American journal of physical anthropology, 2019.
• Davi C, Pastor A, Oliveira T, Neto FBL, Braga-Neto U, Bigham AW, Bamshad M, Marques ETA, Acioli-Santos B. Severe Dengue Prognosis Using Human Genome Data and Machine Learning.. IEEE transactions on bio-medical engineering, 2019.
• Childebayeva A, Jones TR, Goodrich JM, Leon-Velarde F, Rivera-Chira M, Kiyamu M, Brutsaert TD, Dolinoy DC, Bigham AW. LINE-1 and EPAS1 DNA methylation associations with high-altitude exposure.. Epigenetics, 2019.
• Bigham AW, Magnaye K, Dunn DM, Weiss RB, Bamshad M. Complex signatures of natural selection at GYPA.. Human genetics, 2018.
• Bigham AW. Genetics of human origin and evolution: high-altitude adaptations.. Current opinion in genetics & development, 2016.
• Bigham AW, Non A. The Genetic Anthropologist's Contribution to Understanding Race and Racial Health Disparities.. Human biology, 2015.
• Mackelprang RD, Scoville CW, Cohen CR, Ondondo RO, Bigham AW, Celum C, Campbell MS, Essex M, Wald A, Kiarie J, Ronald A, Gray G, Lingappa JR, Partners in Prevention HSV/HIV Transmission Study Team. Toll-like receptor gene variants and bacterial vaginosis among HIV-1 infected and uninfected African women.. Genes and immunity, 2015.
• Emery LS, Magnaye KM, Bigham AW, Akey JM, Bamshad MJ. Estimates of continental ancestry vary widely among individuals with the same mtDNA haplogroup.. American journal of human genetics, 2015.
• Bigham AW, Lee FS. Human high-altitude adaptation: forward genetics meets the HIF pathway.. Genes & development, 2014.
• Bigham AW, Julian CG, Wilson MJ, Vargas E, Browne VA, Shriver MD, Moore LG. Maternal PRKAA1 and EDNRA genotypes are associated with birth weight, and PRKAA1 with uterine artery diameter and metabolic homeostasis at high altitude.. Physiological genomics, 2014.
• Bigham AW, Mackelprang RD, Celum C, De Bruyn G, Beima-Sofie K, John-Stewart G, Ronald A, Mugo NR, Buckingham K, Bamshad MJ, Mullins JI, McElrath MJ, Lingappa JR. Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans.. Journal of acquired immune deficiency syndromes (1999), 2014.
• Song D, Li LS, Arsenault PR, Tan Q, Bigham AW, Heaton-Johnson KJ, Master SR, Lee FS. Defective Tibetan PHD2 binding to p23 links high altitude adaption to altered oxygen sensing.. The Journal of biological chemistry, 2014.
• Mackelprang RD, Bigham AW, Celum C, de Bruyn G, Beima-Sofie K, John-Stewart G, Ronald A, Mugo NR, Buckingham KJ, Bamshad MJ, Mullins JI, McElrath MJ, Lingappa JR. Toll-like receptor polymorphism associations with HIV-1 outcomes among sub-Saharan Africans.. The Journal of infectious diseases, 2013.
• Beima-Sofie KM, Bigham AW, Lingappa JR, Wamalwa D, Mackelprang RD, Bamshad MJ, Maleche-Obimbo E, Richardson BA, John-Stewart GC. Toll-like receptor variants are associated with infant HIV-1 acquisition and peak plasma HIV-1 RNA level.. AIDS (London, England), 2013.
• Bigham AW, Wilson MJ, Julian CG, Kiyamu M, Vargas E, Leon-Velarde F, Rivera-Chira M, Rodriquez C, Browne VA, Parra E, Brutsaert TD, Moore LG, Shriver MD. Andean and Tibetan patterns of adaptation to high altitude.. American journal of human biology : the official journal of the Human Biology Council, 2013.
• Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM, Broad GO, Seattle GO, NHLBI Exome Sequencing Project. Evolution and functional impact of rare coding variation from deep sequencing of human exomes.. Science (New York, N.Y.), 2012.
• Kiyamu M, Bigham A, Parra E, León-Velarde F, Rivera-Chira M, Brutsaert TD. Developmental and genetic components explain enhanced pulmonary volumes of female Peruvian Quechua.. American journal of physical anthropology, 2012.
• Galanter JM, Fernandez-Lopez JC, Gignoux CR, Barnholtz-Sloan J, Fernandez-Rozadilla C, Via M, Hidalgo-Miranda A, Contreras AV, Figueroa LU, Raska P, Jimenez-Sanchez G, Zolezzi IS, Torres M, Ponte CR, Ruiz Y, Salas A, Nguyen E, Eng C, Borjas L, Zabala W, Barreto G, González FR, Ibarra A, Taboada P, Porras L, Moreno F, Bigham A, Gutierrez G, Brutsaert T, León-Velarde F, Moore LG, Vargas E, Cruz M, Escobedo J, Rodriguez-Santana J, Rodriguez-Cintrón W, Chapela R, Ford JG, Bustamante C, Seminara D, Shriver M, Ziv E, Burchard EG, Haile R, Parra E, Carracedo A, LACE Consortium. Development of a panel of genome-wide ancestry informative markers to study admixture throughout the Americas.. PLoS genetics, 2012.
• Quillen EE, Bauchet M, Bigham AW, Delgado-Burbano ME, Faust FX, Klimentidis YC, Mao X, Stoneking M, Shriver MD. OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans.. Human genetics, 2011.
• Julian CG, Vargas E, Browne VA, Wilson MJ, Bigham AW, Rodriguez C, McCord JM, Moore LG. Potential role for elevated maternal enzymatic antioxidant status in Andean protection against altitude-associated SGA.. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2011.
• Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery.. Nature reviews. Genetics, 2011.
• Bigham AW, Buckingham KJ, Husain S, Emond MJ, Bofferding KM, Gildersleeve H, Rutherford A, Astakhova NM, Perelygin AA, Busch MP, Murray KO, Sejvar JJ, Green S, Kriesel J, Brinton MA, Bamshad M. Host genetic risk factors for West Nile virus infection and disease progression.. PloS one, 2011.
• Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.. American journal of medical genetics. Part A, 2011.
• Browne VA, Toledo-Jaldin L, Davila RD, Lopez LP, Yamashiro H, Cioffi-Ragan D, Julian CG, Wilson MJ, Bigham AW, Shriver MD, Honigman B, Vargas E, Roach R, Moore LG. High-end arteriolar resistance limits uterine artery blood flow and restricts fetal growth in preeclampsia and gestational hypertension at high altitude.. American journal of physiology. Regulatory, integrative and comparative physiology, 2011.
• Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, de Condor BJ, Schweiger MR, Robinson PN. Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.. Bioinformatics (Oxford, England), 2011.
• Dávila RD, Julian CG, Wilson MJ, Browne VA, Rodriguez C, Bigham AW, Shriver MD, Vargas E, Moore LG. Do cytokines contribute to the Andean-associated protection from reduced fetal growth at high altitude?. Reproductive sciences (Thousand Oaks, Calif.), 2010.
• Bigham A, Bauchet M, Pinto D, Mao X, Akey JM, Mei R, Scherer SW, Julian CG, Wilson MJ, López Herráez D, Brutsaert T, Parra EJ, Moore LG, Shriver MD. Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data.. PLoS genetics, 2010.
• Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.. Nature genetics, 2010.
• Dávila RD, Julian CG, Wilson MJ, Browne VA, Rodriguez C, Bigham AW, Shriver MD, Vargas E, Moore LG. Do anti-angiogenic or angiogenic factors contribute to the protection of birth weight at high altitude afforded by Andean ancestry?. Reproductive sciences (Thousand Oaks, Calif.), 2010.
• Edwards M, Bigham A, Tan J, Li S, Gozdzik A, Ross K, Jin L, Parra EJ. Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.. PLoS genetics, 2010.
• Bigham AW, Mao X, Mei R, Brutsaert T, Wilson MJ, Julian CG, Parra EJ, Akey JM, Moore LG, Shriver MD. Identifying positive selection candidate loci for high-altitude adaptation in Andean populations.. Human genomics, 2009.
• Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder.. Nature genetics, 2009.
• Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. Targeted capture and massively parallel sequencing of 12 human exomes.. Nature, 2009.
• Willig AL, Casazza KR, Divers J, Bigham AW, Gower BA, Hunter GR, Fernandez JR. Uncoupling protein 2 Ala55Val polymorphism is associated with a higher acute insulin response to glucose.. Metabolism: clinical and experimental, 2009.
• Julian CG, Wilson MJ, Lopez M, Yamashiro H, Tellez W, Rodriguez A, Bigham AW, Shriver MD, Rodriguez C, Vargas E, Moore LG. Augmented uterine artery blood flow and oxygen delivery protect Andeans from altitude-associated reductions in fetal growth.. American journal of physiology. Regulatory, integrative and comparative physiology, 2009.
• Bigham AW, Kiyamu M, León-Velarde F, Parra EJ, Rivera-Ch M, Shriver MD, Brutsaert TD. Angiotensin-converting enzyme genotype and arterial oxygen saturation at high altitude in Peruvian Quechua.. High altitude medicine & biology, 2008.
• Wilson MJ, Lopez M, Vargas M, Julian C, Tellez W, Rodriguez A, Bigham A, Armaza JF, Niermeyer S, Shriver M, Vargas E, Moore LG. Greater uterine artery blood flow during pregnancy in multigenerational (Andean) than shorter-term (European) high-altitude residents.. American journal of physiology. Regulatory, integrative and comparative physiology, 2007.
• Mao X, Bigham AW, Mei R, Gutierrez G, Weiss KM, Brutsaert TD, Leon-Velarde F, Moore LG, Vargas E, McKeigue PM, Shriver MD, Parra EJ. A genomewide admixture mapping panel for Hispanic/Latino populations.. American journal of human genetics, 2007.
• Shriver MD, Mei R, Bigham A, Mao X, Brutsaert TD, Parra EJ, Moore LG. Finding the genes underlying adaptation to hypoxia using genomic scans for genetic adaptation and admixture mapping.. Advances in experimental medicine and biology, 2006.
• Hammer MF, Garrigan D, Wood E, Wilder JA, Mobasher Z, Bigham A, Krenz JG, Nachman MW. Heterogeneous patterns of variation among multiple human x-linked Loci: the possible role of diversity-reducing selection in non-africans.. Genetics, 2004.