Abigail Winslow Bigham

Title(s)Associate Professor, Anthropology
SchoolCollege of Letters and Science
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    1. Differential splenic responses to hyperoxic breathing at high altitude in Sherpa and lowlanders. Exp Physiol. 2024 Apr; 109(4):535-548. Holmström PK, Harman TS, Kalker A, Steiner B, Hawkins E, Jorgensen KC, Zhu KT, Kunwar AJ, Thakur N, Dhungel S, Sherpa N, Day TA, Schagatay EK, Bigham AW, Brutsaert TD. PMID: 38180087; PMCID: PMC10988702.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. High-Altitude Andean H194R HIF2A Allele Is a Hypomorphic Allele. Mol Biol Evol. 2023 07 05; 40(7). Jorgensen K, Song D, Weinstein J, Garcia OA, Pearson LN, Inclán M, Rivera-Chira M, León-Velarde F, Kiyamu M, Brutsaert TD, Bigham AW, Lee FS. PMID: 37463421; PMCID: PMC10370452.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimals
    3. The Legacy of Infectious Disease Exposure on the Genomic Diversity of Indigenous Southern Mexicans. Genome Biol Evol. 2023 Mar 03; 15(3). Garcia OA, Arslanian K, Whorf D, Thariath S, Shriver M, Li JZ, Bigham AW. PMID: 36726304; PMCID: PMC10016042.
      View in: PubMed   Mentions:    Fields:    
    4. Genome-Wide DNA Methylation Changes Associated With High-Altitude Acclimatization During an Everest Base Camp Trek. Front Physiol. 2021; 12:660906. Childebayeva A, Harman T, Weinstein J, Day T, Brutsaert TD, Bigham AW. PMID: 34262470; PMCID: PMC8273439.
      View in: PubMed   Mentions: 5  
    5. Blood lead levels in Peruvian adults are associated with proximity to mining and DNA methylation. Environ Int. 2021 10; 155:106587. Childebayeva A, Goodrich JM, Chesterman N, Leon-Velarde F, Rivera-Ch M, Kiyamu M, Brutsaert TD, Bigham AW, Dolinoy DC. PMID: 33940396; PMCID: PMC9903334.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    6. High-altitude deer mouse hypoxia-inducible factor-2α shows defective interaction with CREB-binding protein. J Biol Chem. 2021 Jan-Jun; 296:100461. Song D, Bigham AW, Lee FS. PMID: 33639161; PMCID: PMC8024697.
      View in: PubMed   Mentions: 6     Fields:    Translation:Animals
    7. Genome-Wide Epigenetic Signatures of Adaptive Developmental Plasticity in the Andes. Genome Biol Evol. 2021 02 03; 13(2). Childebayeva A, Goodrich JM, Leon-Velarde F, Rivera-Chira M, Kiyamu M, Brutsaert TD, Dolinoy DC, Bigham AW. PMID: 33185669; PMCID: PMC7859850.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    8. Reply to Liu et al.: The Andean EGLN1 adaptive allele could be a loss of function variant that increases HIF1-α in skeletal muscle. Proc Natl Acad Sci U S A. 2020 11 24; 117(47):29286-29287. Brutsaert TD, Kiyamu M, Revollendo GE, Isherwood JL, Lee FS, Rivera-Ch M, Leon-Velarde F, Ghosh S, Bigham AW. PMID: 33109724; PMCID: PMC7703654.
      View in: PubMed   Mentions:    Fields:    
    9. Identifying adaptive alleles in the human genome: from selection mapping to functional validation. Hum Genet. 2021 Feb; 140(2):241-276. Werren EA, Garcia O, Bigham AW. PMID: 32728809.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimals
    10. Tibetan PHD2, an allele with loss-of-function properties. Proc Natl Acad Sci U S A. 2020 06 02; 117(22):12230-12238. 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. PMID: 32414920; PMCID: PMC7275716.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimals
    11. Association of EGLN1 gene with high aerobic capacity of Peruvian Quechua at high altitude. Proc Natl Acad Sci U S A. 2019 11 26; 116(48):24006-24011. Brutsaert TD, Kiyamu M, Elias Revollendo G, Isherwood JL, Lee FS, Rivera-Ch M, Leon-Velarde F, Ghosh S, Bigham AW. PMID: 31712437; PMCID: PMC6883775.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    12. DNA Methylation Changes Are Associated With an Incremental Ascent to High Altitude. Front Genet. 2019; 10:1062. Childebayeva A, Harman T, Weinstein J, Goodrich JM, Dolinoy DC, Day TA, Bigham AW, Brutsaert TD. PMID: 31737045; PMCID: PMC6828981.
      View in: PubMed   Mentions: 13  
    13. Exhaled nitric oxide in ethnically diverse high-altitude native populations: A comparative study. Am J Phys Anthropol. 2019 11; 170(3):451-458. Ghosh S, Kiyamu M, Contreras P, León-Velarde F, Bigham A, Brutsaert TD. PMID: 31396964.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    14. Severe Dengue Prognosis Using Human Genome Data and Machine Learning. IEEE Trans Biomed Eng. 2019 10; 66(10):2861-2868. Davi C, Pastor A, Oliveira T, Neto FBL, Braga-Neto U, Bigham AW, Bamshad M, Marques ETA, Acioli-Santos B. PMID: 30716030.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    15. LINE-1 and EPAS1 DNA methylation associations with high-altitude exposure. Epigenetics. 2019 01; 14(1):1-15. Childebayeva A, Jones TR, Goodrich JM, Leon-Velarde F, Rivera-Chira M, Kiyamu M, Brutsaert TD, Dolinoy DC, Bigham AW. PMID: 30574831; PMCID: PMC6380404.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    16. Complex signatures of natural selection at GYPA. Hum Genet. 2018 Feb; 137(2):151-160. Bigham AW, Magnaye K, Dunn DM, Weiss RB, Bamshad M. PMID: 29362874; PMCID: PMC6223178.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    17. Genetics of human origin and evolution: high-altitude adaptations. Curr Opin Genet Dev. 2016 Dec; 41:8-13. Bigham AW. PMID: 27501156; PMCID: PMC5161537.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    18. The Genetic Anthropologist's Contribution to Understanding Race and Racial Health Disparities. Hum Biol. 2015 10; 87(4):291-293. Bigham AW, Non A. PMID: 27737593.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    19. Toll-like receptor gene variants and bacterial vaginosis among HIV-1 infected and uninfected African women. Genes Immun. 2015 Jul-Aug; 16(5):362-365. 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. PMID: 25928881; PMCID: PMC4523061.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    20. Estimates of continental ancestry vary widely among individuals with the same mtDNA haplogroup. Am J Hum Genet. 2015 Feb 05; 96(2):183-93. Emery LS, Magnaye KM, Bigham AW, Akey JM, Bamshad MJ. PMID: 25620206; PMCID: PMC4320259.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    21. Human high-altitude adaptation: forward genetics meets the HIF pathway. Genes Dev. 2014 Oct 15; 28(20):2189-204. Bigham AW, Lee FS. PMID: 25319824; PMCID: PMC4201282.
      View in: PubMed   Mentions: 142     Fields:    Translation:Humans
    22. Maternal PRKAA1 and EDNRA genotypes are associated with birth weight, and PRKAA1 with uterine artery diameter and metabolic homeostasis at high altitude. Physiol Genomics. 2014 Sep 15; 46(18):687-97. Bigham AW, Julian CG, Wilson MJ, Vargas E, Browne VA, Shriver MD, Moore LG. PMID: 25225183; PMCID: PMC4166715.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansCells
    23. Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans. J Acquir Immune Defic Syndr. 2014 Jun 01; 66(2):127-34. 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. PMID: 24463784; PMCID: PMC4025588.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    24. Defective Tibetan PHD2 binding to p23 links high altitude adaption to altered oxygen sensing. J Biol Chem. 2014 May 23; 289(21):14656-65. Song D, Li LS, Arsenault PR, Tan Q, Bigham AW, Heaton-Johnson KJ, Master SR, Lee FS. PMID: 24711448; PMCID: PMC4031521.
      View in: PubMed   Mentions: 49     Fields:    Translation:HumansAnimalsCells
    25. Toll-like receptor polymorphism associations with HIV-1 outcomes among sub-Saharan Africans. J Infect Dis. 2014 May 15; 209(10):1623-7. 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. PMID: 24325963; PMCID: PMC3997584.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    26. Toll-like receptor variants are associated with infant HIV-1 acquisition and peak plasma HIV-1 RNA level. AIDS. 2013 Sep 24; 27(15):2431-9. Beima-Sofie KM, Bigham AW, Lingappa JR, Wamalwa D, Mackelprang RD, Bamshad MJ, Maleche-Obimbo E, Richardson BA, John-Stewart GC. PMID: 24037211; PMCID: PMC4124859.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    27. Andean and Tibetan patterns of adaptation to high altitude. Am J Hum Biol. 2013 Mar-Apr; 25(2):190-7. 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. PMID: 23348729.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    28. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012 Jul 06; 337(6090):64-9. 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. PMID: 22604720; PMCID: PMC3708544.
      View in: PubMed   Mentions: 918     Fields:    Translation:Humans
    29. Developmental and genetic components explain enhanced pulmonary volumes of female Peruvian Quechua. Am J Phys Anthropol. 2012 Aug; 148(4):534-42. Kiyamu M, Bigham A, Parra E, León-Velarde F, Rivera-Chira M, Brutsaert TD. PMID: 22552823.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    30. Development of a panel of genome-wide ancestry informative markers to study admixture throughout the Americas. PLoS Genet. 2012; 8(3):e1002554. 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. PMID: 22412386; PMCID: PMC3297575.
      View in: PubMed   Mentions: 97     Fields:    Translation:Humans
    31. OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans. Hum Genet. 2012 Jul; 131(7):1073-80. Quillen EE, Bauchet M, Bigham AW, Delgado-Burbano ME, Faust FX, Klimentidis YC, Mao X, Stoneking M, Shriver MD. PMID: 22198722.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    32. Potential role for elevated maternal enzymatic antioxidant status in Andean protection against altitude-associated SGA. J Matern Fetal Neonatal Med. 2012 Aug; 25(8):1233-40. Julian CG, Vargas E, Browne VA, Wilson MJ, Bigham AW, Rodriguez C, McCord JM, Moore LG. PMID: 22082238.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    33. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011 Sep 27; 12(11):745-55. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. PMID: 21946919.
      View in: PubMed   Mentions: 782     Fields:    Translation:HumansCells
    34. Host genetic risk factors for West Nile virus infection and disease progression. PLoS One. 2011; 6(9):e24745. 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. PMID: 21935451; PMCID: PMC3174177.
      View in: PubMed   Mentions: 65     Fields:    Translation:Humans
    35. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A. 2011 Jul; 155A(7):1511-6. 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. PMID: 21671394; PMCID: PMC3121928.
      View in: PubMed   Mentions: 77     Fields:    Translation:Humans
    36. High-end arteriolar resistance limits uterine artery blood flow and restricts fetal growth in preeclampsia and gestational hypertension at high altitude. Am J Physiol Regul Integr Comp Physiol. 2011 May; 300(5):R1221-9. 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. PMID: 21325643; PMCID: PMC3094033.
      View in: PubMed   Mentions: 31     Fields:    Translation:Humans
    37. Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics. 2011 Mar 15; 27(6):829-36. Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, de Condor BJ, Schweiger MR, Robinson PN. PMID: 21278187; PMCID: PMC3051326.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    38. Do cytokines contribute to the Andean-associated protection from reduced fetal growth at high altitude? Reprod Sci. 2011 Jan; 18(1):79-87. Dávila RD, Julian CG, Wilson MJ, Browne VA, Rodriguez C, Bigham AW, Shriver MD, Vargas E, Moore LG. PMID: 20841404; PMCID: PMC3045834.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    39. Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data. PLoS Genet. 2010 Sep 09; 6(9):e1001116. 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. PMID: 20838600; PMCID: PMC2936536.
      View in: PubMed   Mentions: 278     Fields:    Translation:Humans
    40. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010 Sep; 42(9):790-3. 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. PMID: 20711175; PMCID: PMC2930028.
      View in: PubMed   Mentions: 618     Fields:    Translation:Humans
    41. Do anti-angiogenic or angiogenic factors contribute to the protection of birth weight at high altitude afforded by Andean ancestry? Reprod Sci. 2010 Sep; 17(9):861-70. Dávila RD, Julian CG, Wilson MJ, Browne VA, Rodriguez C, Bigham AW, Shriver MD, Vargas E, Moore LG. PMID: 20601535; PMCID: PMC3035058.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    42. Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation. PLoS Genet. 2010 Mar 05; 6(3):e1000867. Edwards M, Bigham A, Tan J, Li S, Gozdzik A, Ross K, Jin L, Parra EJ. PMID: 20221248; PMCID: PMC2832666.
      View in: PubMed   Mentions: 52     Fields:    Translation:Humans
    43. Identifying positive selection candidate loci for high-altitude adaptation in Andean populations. Hum Genomics. 2009 Dec; 4(2):79-90. Bigham AW, Mao X, Mei R, Brutsaert T, Wilson MJ, Julian CG, Parra EJ, Akey JM, Moore LG, Shriver MD. PMID: 20038496; PMCID: PMC2857381.
      View in: PubMed   Mentions: 106     Fields:    Translation:Humans
    44. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan; 42(1):30-5. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. PMID: 19915526; PMCID: PMC2847889.
      View in: PubMed   Mentions: 927     Fields:    Translation:HumansCells
    45. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009 Sep 10; 461(7261):272-6. 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. PMID: 19684571; PMCID: PMC2844771.
      View in: PubMed   Mentions: 955     Fields:    Translation:HumansCells
    46. Uncoupling protein 2 Ala55Val polymorphism is associated with a higher acute insulin response to glucose. Metabolism. 2009 Jun; 58(6):877-81. Willig AL, Casazza KR, Divers J, Bigham AW, Gower BA, Hunter GR, Fernandez JR. PMID: 19368944; PMCID: PMC2704067.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    47. Augmented uterine artery blood flow and oxygen delivery protect Andeans from altitude-associated reductions in fetal growth. Am J Physiol Regul Integr Comp Physiol. 2009 May; 296(5):R1564-75. Julian CG, Wilson MJ, Lopez M, Yamashiro H, Tellez W, Rodriguez A, Bigham AW, Shriver MD, Rodriguez C, Vargas E, Moore LG. PMID: 19244584; PMCID: PMC2689835.
      View in: PubMed   Mentions: 60     Fields:    Translation:Humans
    48. Angiotensin-converting enzyme genotype and arterial oxygen saturation at high altitude in Peruvian Quechua. High Alt Med Biol. 2008; 9(2):167-78. Bigham AW, Kiyamu M, León-Velarde F, Parra EJ, Rivera-Ch M, Shriver MD, Brutsaert TD. PMID: 18578648; PMCID: PMC3140306.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    49. Greater uterine artery blood flow during pregnancy in multigenerational (Andean) than shorter-term (European) high-altitude residents. Am J Physiol Regul Integr Comp Physiol. 2007 Sep; 293(3):R1313-24. Wilson MJ, Lopez M, Vargas M, Julian C, Tellez W, Rodriguez A, Bigham A, Armaza JF, Niermeyer S, Shriver M, Vargas E, Moore LG. PMID: 17581833.
      View in: PubMed   Mentions: 35     Fields:    Translation:Humans
    50. A genomewide admixture mapping panel for Hispanic/Latino populations. Am J Hum Genet. 2007 Jun; 80(6):1171-8. 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. PMID: 17503334; PMCID: PMC1867104.
      View in: PubMed   Mentions: 130     Fields:    Translation:HumansCells
    51. Finding the genes underlying adaptation to hypoxia using genomic scans for genetic adaptation and admixture mapping. Adv Exp Med Biol. 2006; 588:89-100. Shriver MD, Mei R, Bigham A, Mao X, Brutsaert TD, Parra EJ, Moore LG. PMID: 17089882.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    52. Heterogeneous patterns of variation among multiple human x-linked Loci: the possible role of diversity-reducing selection in non-africans. Genetics. 2004 Aug; 167(4):1841-53. Hammer MF, Garrigan D, Wood E, Wilder JA, Mobasher Z, Bigham A, Krenz JG, Nachman MW. PMID: 15342522; PMCID: PMC1470985.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
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