Publications

  1. Michael A. McQuillan, Simon Verhulst, Matthew E. B. Hansen, William Beggs, Dawit Wolde Meskel, Gurja Belay, Thomas Nyambo, Sununguko Wata Mpoloka, Gaonyadiwe George Mokone, Charles Fokunang, Alfred K. Njamnshi, Stephen J. Chanock, Abraham Aviv, Sarah A. Tishkoff. Association Between Telomere Length and Falciparum Malaria Endemicity in Sub-Saharan Africans. AJHG, May 2;111(5):927-938. 2024
  2. Yuanqing Feng, Ning Xie, Fumitaka Inoue, Shaohua Fan, Joshua Saskin, Chao Zhang, Fang Zhang, Matthew Hansen, Thomas Nyambo, Sununguko Wata Mpoloka, Gaonyadiwe George Mokone, Charles Fokunang, Gurja Belay, Alfred K Njamnshi, Michael S. Marks, Elena Oancea, Nadav Ahituv, Sarah Tishkoff. Integrative functional genomic analyses identify novel genetic variants influencing skin pigmentation in Africans.Nature Genetics, Feb;56(2):258-272. 2024
  3. Daniel N. Harris, Alexander Platt, Matthew E. B. Hansen, Shaohua Fan, Michael McQuillan, Thomas Nyambo, Sununguko Wata Mpoloka, Gaonyadiwe George Mokone, Gurja Belay, Charles Fokunang, Alfred K. Njamnshi, and Sarah A. Tishkoff. Evidence for ancient introgression of and natural selection on modern human lineages in the Neanderthal genome from comparison with diverse African genomes.
  4. Shaohua Fan, Jeffrey P. Spence, Yuanqing Feng, Matthew E. B. Hansen, Jonathan Terhorst, Marcia H. Beltrame, Alessia Ranciaro, Jibril Hirbo, William Beggs, Neil Thomas, Thomas Nyambo, Sununguko Wata Mpoloka, Gaonyadiwe George Mokone, Alfred Njamnshi, Charles Folkunang, Dawit Wolde Meskel, Gurja Belay, Yun S. Song, Sarah A. Tishkoff, Whole-genome sequencing reveals a complex African population demographic history and signatures of local adaptation.Cell, Mar 2;186(5):923-939, 2023
  5. Ioanna Pagkrati, Jamie L. Duke, Eric Mbunwe, Timothy L. Mosbruger, Deborah Ferriola, Jenna Wasserman, Amalia Dinou, Nikolaos Tairis, Georgios Damianos, Ioanna Kotsopoulou, Ioanna Papaioannou, Adamantia Giannopoulos, William Beggs, Thomas Nyambo, Sununguko W. Mpoloka, Gaonyadiwe G. Mokone, Alfred K. Njamnshi, Charles Folkunan, Dawit W. Meskel, Gurja Belay, Martin Maiers, Sarah A. Tishkoff*, Dimitri S. Monos* A Genomic characterization of HLA class I and class II genes in ethnically diverse sub-Saharan African populations: A report on novel HLA alleles. HLA, March 30, published ahead of print doi: 10.1111/tan.15035, 2023. *these authors contributed equally.
  6. Kelly DE, Ramdas S, Ma R, Rawlings-Goss RA, Grant GR, Ranciaro A, Hirbo JB, Beggs W, Yeager M, Chanock S, Nyambo TB, Omar SA, Woldemeskel D, Belay G, Li H, Brown CD, Tishkoff SA. The genetic and evolutionary basis of gene expression variation in East Africans. Genome Biol. 2023 Feb 24;24(1):35. doi: 10.1186/s13059-023-02874-4.
  7. Michael A McQuillan, Alessia Ranciaro, Matthew E B Hansen , Shaohua Fan , William Beggs , Gurja Belay, Dawit Woldemeskel, Sarah Tishkoff. Signatures of Convergent Evolution and Natural Selection at the Alcohol Dehydrogenase Gene Region are Correlated with Agriculture in Ethnically Diverse Africans. Mol Biol Evol. Oct 7;39(10), 2022
  8. Zhang C, Verma A, Feng Y, Melo MCR, McQuillan M, Hansen M, Lucas A, Park J, Ranciaro A, Thompson S, Rubel MA, Campbell MC, Beggs W, Hirbo J, Mpoloka SW, Mokone GG; Regeneron Genetic Center, Nyambo T, Meskel DW, Belay G, Fokunang C, Njamnshi AK, Omar SA, Williams SM, Rader D, Ritchie MD, de la Fuente Nunez C, Sirugo G, Tishkoff S. Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. PNAS, May 24;119(21):e2123000119. 2022
  9. Ju, D, Hui D, Hammond D, Wonkham A, Tishkoff SA. Importance of including non-European populations in large human genetic studies to enhance precision medicine. Annual Review of Biomedical Data Science, Aug 10; 5:32-339, 2022
  10. Novembre J, Stein C, Asgari S, Ganzaga-Jauregui C, Landstrom A, Lemke A, Li J, Mighton C, Taylor M, and Tishkoff S. Addressing the challenges of polygenic scores in human genetic research. Am J Hum Genet. Dec1;109(12):2095-2100. 2022
  11. Zhang C, Hansen M, and Tishkoff S. Advances in integrative African genomics. Trends in Genetics, Feb;38(2):152-168. 2022
  12. Taylor LJ, Dothard MI, Rubel MA, Allen AA, Hwang Y, Roche AM, Graham-Wooten J, Fitzgerald AS, Khatib LA, Ranciaro A, Thompson SR, Beggs WR, Campbell MC, Mokone GG, Mpoloka SW, Fokunang C, Njamnshi AK, Mbunwe E, Woldemeskel D, Belay G, Nyambo T, Tishkoff SA, Collman RG, Bushman FD. Redondovirus diversity and evolution on global, individual, and molecular scales. J Virol. 2021 Aug 18:JVI0081721. doi: 10.1128/JVI.00817-21. Online ahead of print. PMID: 34406857
  13. Allouche J, Rachmin I, Adhikari K, Pardo LM, Lee JH, McConnell AM, Kato S, Fan S, Kawakami A, Suita Y, Wakamatsu K, Igras V, Zhang J, Navarro PP, Lugo CM, Noonan HR, Christie KA, Itin K, Mujahid N, Lo JA, Won CH, Evans CL, Weng QY, Wang H, Osseiran S, Lovas A, Németh I, Cozzio A, Navarini AA, Hsiao JJ, Nguyen N, Kemény LV, Iliopoulos O, Berking C, Ruzicka T, Gonzalez-José R, Bortolini MC, Canizales-Quinteros S, Acuna-Alonso V, Gallo C, Poletti G, Bedoya G, Rothhammer F, Ito S, Schiaffino MV, Chao LH, Kleinstiver BP, Tishkoff S, Zon LI, Nijsten T, Ruiz-Linares A, Fisher DE, Roider E. NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanism. Cell. 2021 Aug 5;184(16):4268-4283.e20. doi: 10.1016/j.cell.2021.06.022. Epub 2021 Jul 6. PMID: 34233163
  14. Scliar MO, Sant'Anna HP, Santolalla ML, Leal TP, Araújo NM, Alvim I, Borda V, Magalhães WCS, Gouveia MH, Lyra R, Machado M, Michelin L, Rodrigues MR, Araújo GS, Kehdy FSG, Zolini C, Peixoto SV, Luizon MR, Lobo F, Naslavsky MS, Yamamoto GL, Duarte YAO, Hansen MEB, Norris SA, Gilman RH, Guio H, Hsing AW, Mbulaiteye SM, Mensah J, Dutil J, Yeager M, Yeboah E, Tishkoff SA, Choudhury A, Ramsay M, Passos-Bueno MR, Zatz M, O Connor TD, Pereira AC, Barreto ML, Lima-Costa MF, Horta BL, Tarazona-Santos E. Adminxture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes. Int J Obes (Lond)Feb 26. doi: 10.1038/s41366-021-00761-1. 2021
  15. Zhu Y, Mitra N, Feng Y, Tishkoff S, Hoffstad O, Margolis DFLG Variation Differs between European Americans and African Americans. J Invest Dermatol. Jan 22:S0022-202X(21)00011-7. 2021. Online ahead of print
  16. Feng Y, McQuillan MA, Tishkoff SA. Evolutionary genetics of skin pigmentation in African populations.Hum Mol Genet. Jan12: ddab007. doi: 10.1093/hmg/ddab007. Online ahead of print. 2021
  17. McQuillan MA, Zhang C, Tishkoff SA, Platt A. The importance of including ethnically diverse populations in studies of quantitative trait evolution. Curr Opin Genet Dev. Jun 27;62:30-35. 2020
  18. Hunt SC, Hansen MEB, Verhulst S, McQuillan MA, Beggs W, Lai TP, Mokone GG, Mpoloka SW, Meskel DW, Belay G, Nyambo TB, Abnet CC, Yeager M, Chanock SJ, Province MA, Williams SM, Aviv A, Tishkoff SA. Genetics and Geography of Leukocyte Telomere Length in Sub-Saharan Africans. Hum Mol Genet. 2020 Aug 21:ddaa187. 2020
  19. Mosbruger TL, Dinou A, Duke JL, Ferriola D, Mehler H, Pagkrati I, Damianos G, Mbunwe E, Sarmady M, Lyratzakis I, Tishkoff SA, Dinh A, Monos DS. Utilizing nanopore sequencing technology for the rapid and comprehensive characterization of eleven HLA loci; addressing the need for deceased donor expedited HLA typing. Hum Immunol. Aug;81(8):413-422. 2020.
  20. Rubel MA, Abbas A, Taylor LJ, Connell A, Tanes C, Bittinger K, Ndze VN, Fonsah JY, Ngwang E, Essiane A, Fokunang C, Njamnshi AK, Bushman FD, Tishkoff SA. Lifestyle and the presence of helminths is associated with gut microbiome composition in Cameroonians. Genome Biol. May 25;21(1):122. doi: 10.1186/s13059-020-02020-4. 2020.
  21. Gouveia MH, Borda V, Leal TP, Moreira RG, Bergen AW, Kehdy FSG, Alvim I, Aquino MM, Araujo GS, Araujo NM, Furlan V, Liboredo R, Machado M, Magalhaes WCS, Michelin LA, Rodrigues MR, Rodrigues-Soares F, Sant Anna HP, Santolalla ML, Scliar MO, Soares-Souza G, Zamudio R, Zolini C, Bortolini MC, Dean M, Gilman RH, Guio H, Rocha J, Pereira AC, Barreto ML, Horta BL, Lima-Costa MF, Mbulaiteye SM, Chanock SJ, Tishkoff SA, Yeager M, Tarazona-Santos E. Origins, admixture dynamics and homogenization of the African gene pool in the Americas. Mol Biol Evol. Mar 3. pii: msaa033. doi: 10.1093/molbev/msaa033. [Epub ahead of print], 2020.
  22. McHenry ML, Bartlett J, Igo RP Jr, Wampande EM, Benchek P, Mayanja-Kizza H, Fluegge K, Hall NB, Gagneux S, Tishkoff SA, Wejse C, Sirugo G, Boom WH, Joloba M, Williams SM, Stein CM. Interaction between host genes and Mycobacterium tuberculosis lineage can affect tuberculosis severity: evidence for coevolution? PLoS Genet. Apr 30;16(4):e1008728. 2020.
  23. Gouveia MH, Cesar CC, Santolalla ML, Anna HPS, Scliar MO, Leal TP, Araújo NM, Soares- Souza GB, Magalhães WCS, Mata IF, Ferri CP, Castro-Costa E, Mbulaiteye SM, Tishkoff SA, Shriner D, Rotimi CN, Tarazona-Santos E, Lima-Costa MF. Genetics of cognitive trajectory in Brazilians: 15 years of follow-up from the Bambuí-Epigen Cohort Study of Aging. Sci Rep. Dec 2;9(1):18085. 2019.
  24. Lona-Durazo F, Hernandez-Pacheco N, Fan S, Zhang T, Choi J, Kovacs MA, Loftus SK, Le P, Edwards M, Fortes-Lima CA, Eng C, Huntsman S, Hu D, Gómez-Cabezas EJ, Marín-Padrón LC, Grauholm J, Mors O, Burchard EG, Norton HL, Pavan WJ, Brown KM, Tishkoff S, Pino-Yanes M, Beleza S, Marcheco-Teruel B, Parra EJ.. Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations. BMC Genet. Jul 17;20(1):59, 2019.
  25. Shaohua Fan, Derek E. Kelly, Marcia H. Beltrame, Matt EB. Hansen, Swapan Mallick, Thomas Nyambo, Sabah Omar, Dawit Wolde Meskel, Gurja Belay, Alain Froment, Nick Patterson, David Reich, Sarah A. Tishkoff. African evolutionary history inferred from whole genome sequence data, Genome Biology, 2Apr 26;20(1):82. 2019.
  26. Scheinfeldt L , Sameer Soi, Charla Lambert, Wen-Ya Ko, Aoua Coulibaly, Alessia Ranciaro, Simon Thompson, Jibril Hirbo, William Beggs, Muntaser Ibrahim, Thomas Nyambo, Sabah Omar, Dawit Woldemeskel, Gurja Belay, Alain Froment, Junhyong Kim, Sarah Tishkoff. Genomic evidence for shared common ancestry of East African hunting-gathering populations and insights into local adaptation, Proc Natl Acad Sci U S A, Feb 19. pii: 201817678. doi: 10.1073/pnas.1817678116. [Epub ahead of print] PMID:30782801, 2019.
  27. Gouveia MH, Bergen AW, Borda V, Nunes K, Leal TP, Ogwang MD, Yeboah ED, Mensah JE, Kinyera T, Otim I, Nabalende H, Legason ID, Mpoloka SW, Mokone GG, Kerchan P, Bhatia K, Reynolds SJ, Birtwum RB, Adjei AA, Tettey Y, Tay E, Hoover R, Pfeiffer RM, Biggar RJ, Goedert JJ, Prokunina-Olsson L, Dean M, Yeager M, Lima-Costa MF, Hsing AW, Tishkoff SA, Chanock SJ, Tarazona-Santos E, Mbulaiteye SM. Genetic signatures of gene flow and malaria-driven natural selection in sub-Saharan populations of the "endemic Burkitt Lymphoma belt. PLoS Genet. Mar 8;15(3):e1008027. doi: 10.1371. 2019.
  28. Matthew EB Hansen, Meagan A. Rubel, Aubrey G. Bailey, Alessia Ranciaro, Simon R. Thompson, Michael C. Campbell, William Beggs, Jaanki R. Dave, Gaonyadiwe G. Mokone, Sununguko Wata Mpoloka, Thomas Nyambo, Christian Abnet, Stephen J. Chanock, Frederic D. Bushman & Sarah A. Tishkoff. Population structure of human gut bacteria in a diverse cohort from rural Tanzania and Botswana. Genome Biology, Jan 22;20(1):16. doi: 10.1186. 2019.
  29. Bamford CGG, Aranday-Cortes E, Filipe IC, Sukumar S, Mair D, Filipe ADS, Mendoza JL, Garcia KC, Fan S, Tishkoff SA, McLauchlan J. A polymorphic residue that attenuates the antiviral potential of interferon lambda 4 in hominid lineages. PLoS Pathog. Oct 11;14(10):e1007307. doi: 10.1371/journal.ppat.1007307. 2018
  30. Hey J, Chung Y., Sethuraman A., Lachance J., Tishkoff S, Sousa V.C., Wang Y. Phylogeny Estimation by Integration over Isolation withi Migration Models. Mol Biol Evol. Aug 20. doi: 10.1093/molbev/msy162. [Epub ahead of print]. 2018.
  31. Lachance J, Berens AJ, Hansen MEB, Teng AK, Tishkoff SA, Rebbeck TR. Genetic Hitchhiking and Population Bottlenecks Contribute to Prostate Cancer Disparities in Men of African Descent. Cancer Res. 2018 May 1;78(9):2432-2443. doi: 10.1158/0008-5472.CAN-17-1550. Epub Feb 8 2018
  32. Kay C, Collins JA, Wright GEB, Baine F, Miedzybrodzka Z, Aminkeng F, Semaka AJ, McDonald C, Davidson M, Madore SJ, Gordon ES, Gerry NP, Cornejo-Olivas M, Squitieri F, Tishkoff S, Greenberg JL, Krause A, Hayden MR. The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population. <>emAm J Med Genet B Neuropsychiatr Genet. 2018 Apr;177(3):346-357. doi: 10.1002/ajmg.b.32618. Epub Feb 20 2018
  33. Loy DE, Rubel MA, Avitto AN, Liu W, Li Y, Learn GH, Ranciaro A, Mbunwe E, Fokunang C, Njamnshi AK, Sharp PM, Tishkoff SA, Hahn BH. Investigating zoonotic infection barriers to ape Plasmodium parasites using faecal DNA analysis. Int J Parasitol. Jun;48(7):531-542. 2018.
  34. Crawford N, Prendergast D, Oehlert JW, Shaw GM, Stevenson DK, Rappaport N, Sirota M, Tishkoff SA, Sondheimer N. Divergent Patterns of Mitochondrial and Nuclear Ancestry Are Associated with the Risk for Preterm Birth. J Pediatr. Dec 13. Mar;194:40-46. 2018
  35. Crawford NG, Kelly DE, Hansen MEB, Beltrame MH, Fan S, Bowman SL, Jewett E, Ranciaro A, Thompson S, Lo Y, Pfeifer SP, Jensen JD, Campbell MC, Beggs W, Hormozdiari F, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Haut J; NISC Comparative Sequencing Program, Rothschild H, Zon L, Zhou Y, Kovacs MA, Xu M, Zhang T, Bishop K, Sinclair J, Rivas C, Elliot E, Choi J, Li SA, Hicks B, Burgess S, Abnet C, Watkins-Chow DE, Oceana E, Song YS, Eskin E, Brown KM, Marks MS, Loftus SK, Pavan WJ, Yeager M, Chanock S, Tishkoff SA. Loci associated with skin pigmentation identified in African populations. Science, Nov 17;358(6365). 2017.
  36. McQuillan MA, Zhang C, Tishkoff SA, Platt A. The importance of including ethnically diverse populations in studies of quantitative trait evolution. Curr Opin Genet Dev. Jun 27;62:30-35. 2020
  37. Kelly, D.E., Hansen, M.E.B, Tishkoff, S.A. Global variation in gene expression and the value of diverse sampling. Curr Opin Syst Biol. Feb;1:102-108. 2017
  38. Nielsen R, Akey JM, Jakobsson M, Pritchard JK, Tishkoff S, Willerslev E. Tracing the peopling of the world through genomics. Nature. Jan 18;541(7637):302-310. 2017
  39. McGuire AL, Gabriel S, Tishkoff SA, Wonkam A, Chakravarti A, Furlong EEM, Treutlein B, Meissner A, Chang HY, López-Bigas N, Segal E, Kim JS. The road ahead in genetics and genomics. Nat Rev Genet. Aug 24:1-16. 2020
  40. Sirugo, G, Williams Scott M, and Tishkoff SA, The missing diversity in human genetic studies, Cell, Mar 21;177(1):26-31. doi: 10.1016. 2019.
  41. Tishkoff S and Ellegren H (guest editors). Evolutionary Genomics Issue, Genome Biology. volume 20, Article number: 10. 2019
  42. Kowal E, Llamas B, Tishkoff S. Consent: Data-sharing for indigenous peoples. Nature. Jun 21;546(7659):474. 2017.
  43. Yudell M, Roberts D, DeSalle R, Tishkoff S. Science and Society: Taking race out of human genetics, Science, Feb 5:351(6273):564-5. 2016
  44. Yudell M, Roberts D, DeSalle R, Tishkoff S (2016) Science and Society. Taking race out of human genetics. Science 351(6273):564-565.
    PMID: 26912690
  45. Fan S, Hansen ME, Lo Y, Tishkoff SA (2016) Going global by adapting local: A review of recent human adaptation. Science 354:(6308):54-59.
    PMID: 27846491
  46. Beltrame MH, Rubel MA, Tishkoff SA (2016) Inferences of African evolutionary history from genomic data. Curr Opin Genet Dev. 41:159-166.
    PMID: 27810637
  47. Stone RC, Horvath K, Kark JD, Susser E, Tishkoff SA, Aviv A (2016) Telomere length and the cancer-atherosclerosis trade-off. PLoS Genet. 12(7):e1006144.
    PMID: 27386863
  48. Hansen ME, Hunt SC, Stone RC, Horvath K, Herbig U, Ranciaro A, Hirbo J, Beggs W, Reiner AP, Wilson JG, Kimura M, De Vivo I, Chen MM, Kark JD, Levy D, Nyambo T, Tishkoff SA,* Aviv A.* (2016) Shorter telomere length in Europeans than in Africans due to polygenetic adaptation. Hum Mol Genet. 25(11):2324-2330. *Co-Senior Author
    PMID: 26936823
  49. Pagani L, Lawson DJ, Jagoda E, Mörseburg A, Eriksson A, Mitt M, Clemente F, Hudjashov G, DeGiorgio M, Saag L, Wall JD, Cardona A, Mägi R, Sayres MA, Kaewert S, Inchley C, Scheib CL, Järve M, Karmin M, Jacobs GS, Antao T, Iliescu FM, Kushniarevich A, Ayub Q, Tyler-Smith C, Xue Y, Yunusbayev B, Tambets K, Mallick CB, Saag L, Pocheshkhova E, Andriadze G, Muller C, Westaway MC, Lambert DM, Zoraqi G, Turdikulova S, Dalimova D, Sabitov Z, Sultana GN, Lachance J, Tishkoff S, Momynaliev K, Isakova J, Damba LD, Gubina M, Nymadawa P, Evseeva I, Atramentova L, Utevska O, Ricaut FX, Brucato N, Sudoyo H, Letellier T, Cox MP, Barashkov NA, Škaro V, Mulahasanovic L, Primorac D, Sahakyan H, Mormina M, Eichstaedt CA, Lichman DV, Abdullah S, Chaubey G, Wee JT, Mihailov E, Karunas A, Litvinov S, Khusainova R, Ekomasova N, Akhmetova V, Khidiyatova I, Marjanović D, Yepiskoposyan L, Behar DM, Balanovska E, Metspalu A, Derenko M, Malyarchuk B, Voevoda M, Fedorova SA, Osipova LP, Lahr MM, Gerbault P, Leavesley M, Migliano AB, Petraglia M, Balanovsky O, Khusnutdinova EK, Metspalu E, Thomas MG, Manica A, Nielsen R, Villems R, Willerslev E, Kivisild T, Metspalu M (2016) Genomic analyses inform on migration events during the peopling of Eurasia. Nature 538(7624):238-242.
    PMID: 27654910
  50. Mallick S, Li H, Lipson M, Mathieson I, Gymrek M, Racimo F, Zhao M, Chennagiri N, Nordenfelt S, Tandon A, Skoglund P, Lazaridis I, Sankararaman S, Fu Q, Rohland N, Renaud G, Erlich Y, Willems T, Gallo C, Spence JP, Song YS, Poletti G, Balloux F, van Driem G, de Knijff P, Romero IG, Jha AR, Behar DM, Bravi CM, Capelli C, Hervig T, Moreno-Estrada A, Posukh OL, Balanovska E, Balanovsky O, Karachanak-Yankova S, Sahakyan H, Toncheva D, Yepiskoposyan L, Tyler-Smith C, Xue Y, Abdullah MS, Ruiz-Linares A, Beall CM, Di Rienzo A, Jeong C, Starikovskaya EB, Metspalu E, Parik J, Villems R, Henn BM, Hodoglugil U, Mahley R, Sajantila A, Stamatoyannopoulos G, Wee JT, Khusainova R, Khusnutdinova E, Litvinov S, Ayodo G, Comas D, Hammer MF, Kivisild T, Klitz W, Winkler CA, Labuda D, Bamshad M, Jorde LB, Tishkoff SA, Watkins WS, Metspalu M, Dryomov S, Sukernik R, Singh L, Thangaraj K, Pääbo S, Kelso J, Patterson N, Reich D (2016) The Simons Genome Diversity Project: 300 genomes from 142 diverse populations. Nature 538(7624):201-206.
    PMID: 27654912
  51. Jacobson DR, Alexander AA, Tagoe C, Garvey WT, Williams SM, Tishkoff S, Modiano D, Sirima SB, Kalidi I, Toure A, Buxbaum JN (2016) The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa. Mol Genet Genomic Med 4(5):548-556.
    PMID: 27652282
  52. Sobota RS, Stein CM, Kodaman N, Scheinfeldt LB, Maro I, Wieland-Alter W, Igo RP Jr, Magohe A, Malone LL, Chervenak K, Hall NB, Modongo C, Zetola N, Matee M, Joloba M, Froment A, Nyambo TB, Moore JH, Scott WK, Lahey T, Boom WH, von Reyn CF, Tishkoff SA, Sirugo G, Williams SM (2016) A locus at 5q33.3 confers resistance to tuberculosis in highly susceptible individuals.  Am J Hum Genet. 98(3):514-524.
    PMID: 26942285
  53. Hsieh P, Veeramah KR, Lachance J, Tishkoff SA, Wall JD, Hammer MF, Gutenkunst RN (2016) Whole-genome sequence analyses of Western Central African Pygmy hunter-gatherers reveal a complex demographic history and identify candidate genes under positive natural selection. Genome Res. 26(3):279-290.
    PMID: 26888263
  54. Tishkoff, SA (2015) Strength in small numbers. Science 349(6254):1282-1283.
    PMID: 26383935
  55. 1000 Genomes Project Consortium (2015) A global reference for human genetic variation. Nature 526(7571):68-74.
    PMID: 26432245
  56. Nam K, Munch K, Hobolth A, Dutheil JY, Veeramah KR, Woerner AE, Hammer MF, Great Ape Genome Diversity Project, Mailund T, Schierup MH (2015) Extreme selective sweeps independently targeted the X chromosomes of the great apes. Proc Natl Acad Sci USA 112(20):6413-6418.
    PMID: 25941379
  57. Karmin M, Saag L, Vicente M, Sayres MA, Järve M, ……. Lachance J, Tishkoff S, …, Thomas MG, Tyler-Smith C, Underhill PA, Willerslev E, Nielsen R, Metspalu M, Villems R, Kivisild T (2015) A recent bottleneck of Y chromosome diversity coincides with a global change in culture. Genome Res. 25(4):459-466.
    PMID: 25770088
  58. Mangino M, Christiansen L, Stone R, Hunt SC, Horvath K, Eisenberg DT, Kimura M, PetersenI, Kark JD, Herbig U, Reiner AP, Benetos A, Codd V, Nyholt DR, Sinnreich R, Christensen K, Nassar H, Hwang SJ, Levy D, Bataille V, Fitzpatrick AL, Chen W, Berenson GS, Samani NJ, Martin NG, Tishkoff S, Schork NJ, Kyvik KO, Dalgård C, Spector TD, Aviv A (2015) DCAF4, a novel gene associated with leucocyte telomere length. J Med Genet. 52(3):157-162.
    PMID: 25624462
  59. Lachance, J, Tishkoff SA (2014) Biased gene conversion skews allele frequencies in human populations, increasing the disease burden of recessive alleles. Am J Hum Genet 95(4):408-420.
    PMID: 25279983
  60. Lazaridis I, Patterson N, Mittnik A, Renaud G, Mallick S, …… Tishkoff SA, Singh L, Thangaraj K, Villems R, Comas D, Sukernik R, Metspalu M, Meyer M, Eichler EE, Burger J, Slatkin M, Pääbo S, Kelso J, Reich D, Krause J. (2014) Ancient human genomes suggest three ancestral populations for present-day Europeans. Nature 513(7518):409-413.
    PMID: 25230663
  61. Gomez, F, J Hirbo, and SA Tishkoff. (2014) African population genetic history and evidence for local adaptation in African populations. In Who Are We? Human Diversity and Race from a Contemporary Genetics Perspective. Chakravarti, A. (eds.). Cold Spring Harbor Press.
  62. Campbell, M, J Hirbo, J Townsend, SA Tishkoff (2014) The peopling of the African continent and the diaspora into the new world. Curr Opin Gene Dev 15:120-132.
    PMID: 25461616
  63. Rawlings-Goss, RA, MC Campbell and SA Tishkoff (2014) Global population-specific variation in miRNA associated with cancer risk and clinical biomarkers. BMC Medical Genomics 7:53. doi: 10.1186/1755-8794-7-53.
    PMID: 25169894
  64. Elhassan N, EI Gebremeskel, MA Elnour, D Isabirye, J Okello, A Hussien, D Kwiatksowski, J Hirbo, S Tishkoff, ME Ibrahim ME (2014) The episode of genetic drift defining the migration of humans out of Africa is derived from a large east African population size. PLoS One 9(5):e97674.
    Link to article
  65. Campbell MC, A Ranciaro, D Zinshteyn, R Rawlings-Goss, J Hirbo, S Thompson, D Woldemeskel, A Froment, SA Omar, JM Bodo, T Nyambo, G Belay, D Drayna, PA Breslin, SA Tishkoff (2014) Limited evidence for adaptive evolution and functional effect of allelic variation at rs702424 in the promoter of the TAS2R16 bitter taste receptor gene in Africa. J Hum Genet. 59(6):349-352.
    PMID: 24785689
  66. Ranciaro, A, MC Campbell, JB Hirbo, W-Y Ko, A Froment, G Destro-Bisol, MJ Kotze, M Ibrahim, T Nyambo, SA Omar, SA Tishkoff (2014) Genetic origins of lactase persistence and the spread of pastoralism in Africa, American Journal of Human Genetics, 94(4):496-510.
    PMID: 24630847
  67. Campbell, MC, A Ranciaro, D Zinshteyn, R Rawlings-Goss, JB Hirbo, SI Thompson, D Woldemeskel, A Froment, JB Rucker, SA Omar, J-M Bodo, T Nyambo, G Belay, D Drayna, PAS Breslin, SA Tishkoff (2014) Origin and differential selection of allelic variation at TAS2R16 associated with salicin bitter taste sensitivity in Africa. Molecular Biology and Evolution 31(2):288-302.
    PMID: 24177185
  68. Elbers, CC,  ME Garcia, M Kimura, SR Cummings, MA Nalls, AB Newman, V Park, JL Sanders, GJ Tranah, SA Tishkoff, TB Harris, A Aviv (2014) Comparison between southern blots and qPCR analysis of leukocyte telomere length in the health ABC study. The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences. 69(5):5275-5231.
    PMID: 23946336
  69. Ferreira Z, B Hurle, AM Andrés, W Kretzschmar, J Mullikin, P Cherukuri, P Cruz, MK Gonder, A Stone, SA Tishkoff, W Swanson, NISC Comparative Sequencing Program, E Green, AG Clark, and S Seixas (2013) Sequence diversity of Pan troglodytes subspecies and the impact of WFDC6 selective constraints in reproductive immunity. Genome Biol Evol. 5(12):2512-2523.
    PMID: 24356879
  70. Gomez, F, J Hirbo, and SA Tishkoff (2014) African population genetic history and evidence for local adaptation in African populations. Who Are We? Human Diversity and Race from a Contemporary Genetics Perspective A Chakravarti (Eds.). Cold Spring Harbor Press.
  71. Gomez, F, W-Y Ko, A Davis, and SA Tishkoff (2013) Impact of natural selection due to malarial disease on human genetic variation. In Primates, Pathogens and Evolution. Developments in Primatology: Progress and Prospects JF Brinkworth and K Pechenkina (eds.) Springer publishing, New York. 38:117-160.
  72. Scheinfeldt, LB, and SA Tishkoff (2013) Recent human adaptation: genomic approaches, interpretation and insights. Nature Reviews Genetics 14(10):692-702.
    Med PMID: 24052086
  73. Lachance, J, and SA Tishkoff (2013) SNP ascertainment bias in population genetic analyses: why it is important, and how to correct it. BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology 35(9):780-786.
    PMID: 23836388
  74. Lachance, J, and SA Tishkoff (2013) Population genomics of human adaptation. Annual Review of Ecology, Evolution, and Systematics 44:123-143.
    Link to article
  75. Ranciaro, A, MC Campbell, JB Hirbo, W-Y Ko, A Froment, G Destro-Bisol, MJ Kotze, M Ibrahim, T Nyambo, SA Omar, and SA Tishkoff (2013) Genetic origins of lactase persistence and the spread of pastoralism in Africa. American Journal of Human Genetics 94(4):496-510.
    PMID: 24630847
  76. Campbell, MC, A Ranciaro, D Zinshteyn, R Rawlings-Goss, JB Hirbo, SI Thompson, D Woldemeskel, A Froment, JB Rucker, SA Omar, J-M Bodo, T Nyambo, G Belay, D Drayna, PAS Breslin, and SA Tishkoff (2013) Origin and differential selection of allelic variation at TAS2R16 associated with salicin bitter taste sensitivity in Africa. Molecular Biology and Evolution Oct 30. [Epub ahead of print].
    PMID: 24177185
  77. Wang S, J Lachance, SA Tishkoff, J Hey, and J Xing (2013) Apparent variation in Neanderthal admixture among African populations is consistent with gene flow from non-African populations. Genome Biol Evol. 5(11):2075-2081.
    PMID: 24162011
  78. Prado-Martinez, J, PH Sudmant, JM Kidd, H Li, JL Kelley, B Lorente-Galdos, KR Veeramah, AE Woerner, TD O'Connor, G Santpere, A Cagan, C Theunert, F Casals, H Laayouni, K Munch, A Hobolth, AE Halager, M Malig, J Hernandez-Rodriguez, I Hernando-Herraez, K Prüfer, M Pybus, L Johnstone, M Lachmann, C Alkan, D Twigg, N Petit, C Baker, F Hormozdiari, M Fernandez-Callejo, M Dabad, ML Wilson, L Stevison, C Camprubí, T Carvalho, A Ruiz-Herrera, L Vives, M Mele, T Abello, I Kondova, RE Bontrop, A Pusey, F Lankester, JA Kiyang, RA Bergl, E Lonsdorf, S Myers, M Ventura, P Gagneux, D Comas, H Siegismund, J Blanc, L Agueda-Calpena, M Gut, L Fulton, SA Tishkoff, JC Mullikin, RK Wilson, IG Gut, MK Gonder, OA Ryder, BH Hahn, A Navarro, JM Akey, J Bertranpetit, D Reich, T Mailund, MH Schierup, C Hvilsom, AM Andrés, JD Wall, CD Bustamante, MF Hammer, EE Eichler, and T Marques-Bonet (2013) Great ape genetic diversity and population history. Nature 499(7459):471-475.
    PMID: 23823723
  79. Ko, WY, P Rajan, F Gomez, L Scheinfeldt, P An, CA Winkler, A Froment, TB Nyambo, SA Omar, C Wambebe, A Ranciaro, JB Hirbo, and SA Tishkoff (2013) Identifying Darwinian selection acting on different human APOL1 variants among diverse African populations. American Journal of Human Genetics 93(1):54-66.
    PMID: 23768513
  80. Gomez, F, G Tomas, WY Ko, A Ranciaro, A Froment, M Ibrahim, G Lema, TB Nyambo, SA Omar, C Wambebe, JB Hirbo, J Rocha, and SA Tishkoff (2013) Patterns of nucleotide and haplotype diversity at ICAM-1 across global human populations with varying levels of malaria exposure. Human Genetics 132(9):987-999.
    PMID: 23609612
  81. Elbers, CC, ME Garcia, M Kimura, SR Cummings, MA Nalls, AB Newman, V Park, JL Sanders, GJ Tranah, SA Tishkoff, TB Harris and A Aviv (2013) Comparison between southern blots and qPCR analysis of leukocyte telomere length in the health ABC study. The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences (August 14)
    PMID: 23946336
  82. Aminkeng, F, CJ Ross, SR Rassekh, LR Brunham, J Sistonen, MP Dube, M Ibrahim, TB Nyambo, SA Omar, A Froment, JM Bodo, SA Tishkoff, BC Carleton, and MR Hayden (2013) Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent. The Pharmacogenomics Journal doi: 10.1038/tpj.
    PMID: 23588107
  83. Ko, WY, F. Gomez, and SA Tishkoff (2012) Rapid evolution of human erythrocyte-specific genes involved in malaria susceptibility. In Evolution in the fast lane: Rapidly evolving genes and genetic systems. RS Singh, J Xu, and RJ Kulathinal (eds.) Oxford University Press.
  84. Hirbo, JB, A Ranciaro, and SA Tishkoff (2012) Population structure and migration in Africa: correlations between archeological, linguistic, and genetic data. In Causes and Consequences of Migration B. Campbell and MH Crawford (eds.) Cambridge University Press.
  85. Vitti, JJ, MK Cho, SA Tishkoff, and PC Sabeti (2012) Human evolutionary genomics: ethical and interpretive issues. Trends in Genetics 28(3):137-145.
    PMID: 22265990
  86. Wang, X, N Mitra, I Secundino, K Banda, P Cruz, V Padler-Karavani, A Verhagen, C Reid, M Lari, E Rizzi, C Balsamo, G Corti, G De Bellis, L Longo, W Beggs, D Caramelli, SA Tishkoff, T Hayakawa, ED Green, JC Mullikin, V Nizet,  J Bui, A Varki, B Benjamin, R Blakesley, G Bouffard, S Brooks, G Chu, H Coleman, M Dekhtyar, M Gregory, X Guan, J Gupta, J Han, A Hargrove, SL Ho, T Johnson, R Legaspi, S Lovett, Q Maduro, C Masiello, B Maskeri, J McDowell, C Montemayor, B Novotny, M Park, N Riebow, K Schandler, B Schmidt, B, C Sison, M Stantripop, J Thomas, M Vemulapalli, and A Young (2012) Specific inactivation of two immunomodulatory SIGLEC genes during human evolution. Proceedings of the National Academy of Sciences of the United States of America 109(25):9935-9940.
    PMID: 22665810
  87. Steinberg, KM, F Antonacci, PH Sudmant, JM Kidd, CD Campbell, L Vives, M Malig, L Scheinfeldt, W Beggs, M Ibrahim, G Lema, TB Nyambo, SA Omar, JM Bodo, A Froment, MP Donnelly, KK Kidd, SA Tishkoff, and EE Eichler (2012) Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nature Genetics 44(8):872-880.
    PMID: 22751100
  88. Scheinfeldt, LB, S Soi, S Thompson, A Ranciaro, D Woldemeskel, W Beggs, C Lambert, JP Jarvis, D Abate, G Belay, and SA Tishkoff (2012) Genetic adaptation to high altitude in the Ethiopian highlands. Genome Biology 13(1): R1.
    PMID: 22264333
  89. Pickrell, JK, N Patterson, C Barbieri, F Berthold, L Gerlach, T Guldemann, B Kure, SW Mpoloka, H Nakagawa, C Naumann, M Lipson, PR Loh, J Lachance, J Mountain, CD Bustamante, B Berger, SA Tishkoff, BM Henn, M Stoneking, D Reich, and B Pakendorf (2012) The genetic prehistory of southern Africa. Nature Communications 3:1143.
    PMID: 23072811
  90. Mangino, M, SJ Hwang, TD Spector, SC Hunt, M Kimura, AL Fitzpatrick, L Christiansen, I Petersen, CC Elbers, T Harris, W Chen,  SR Srinivasan, JD Kark, A Benetos, S El Shamieh, S Visvikis-Siest, K Christensen, GS Berenson, AM Valdes, A Vinuela, M Garcia, DK Arnett, U Broeckel, MA Province, JS Pankow, C Kammerer, Y Liu, M Nalls, SA Tishkoff, F Thomas, E Ziv, BM Psaty,  JC Bis, JI Rotter, KD Taylor, E Smith, NJ Schork, D Levy, and A Avi (2012) Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. Human Molecular Genetics 21(24):5385-5394.
    PMID: 23001564
  91. Lachance, J, B Vernot, CC Elbers, B Ferwerda, A Froment, JM Bodo, G Lema, W Fu, TB Nyambo, TR Rebbeck, K Zhang, JM Akey, and SA Tishkoff (2012) Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers. Cell 150(3):457-469.
    PMID: 22840920
  92. Jarvis, JP, LB Scheinfeldt, S Soi, C Lambert, L Omberg, B Ferwerda, A Froment, JM Bodo, W Beggs, G Hoffman, J Mezey, and SA Tishkoff (2012) Patterns of ancestry, signatures of natural selection, and genetic association with stature in Western African pygmies. PLoS Genetics 8(4):e1002641.
    PMID: 22570615
  93. Campbell, MC, A Ranciaro, A Froment, J Hirbo, S Omar, JM Bodo, T Nyambo,  G Lema, D Zinshteyn, D Drayna, PA Breslin, and SA Tishkoff (2012) Evolution of functionally diverse alleles associated with PTC bitter taste sensitivity in Africa. Molecular Biology and Evolution 29(4):1141-1153.
    PMID: 22130969
  94. Cabral, WA, AM Barnes, A Adeyemo, K Cushing, D Chitayat, FD Porter, SR Panny, F Gulamali-Majid, SA Tishkoff, TR Rebbeck, SM Gueye, JE Bailey-Wilson, LC Brody, CN Rotimi, and JC Marini (2012) A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genetics in Medicine : Official Journal of the American College of Medical Genetics 14(5):543-551.
    PMID: 22281939
  95. Williams, SM and SA Tishkoff (2011) Exploring genomic studies in Africa. Genome Medicine 3(7):45.
    PMID: 21745422
  96. Tishkoff, SA (2011) Interview with Sarah Tishkoff: perspectives for genetic research in African populations. Interview by Giovanni Destro-Bisol. Human Biology 83(5):637-644.
    PMID: 22146066
  97. Huang, L, M Jakobsson, TJ Pemberton, I Muntaser, T Nyambo, S Omar, JK Pritchard, SA Tishkoff, and NA Rosenberg (2011) Haplotype variation and genotype imputation in African populations. Genetic Epidemiology 35(8):766-780.
    PMID: 22125220
  98. Mortensen, H, A Froment, G Lema, JM Bodo, M Ibrahim, TB Nyambo, SA Omar, and SA Tishkoff (2011) Characterization of genetic variation and natural selection at the arylamine N-acetyltransferase (NAT) genes in global human populations. Pharmacogenomics 12(11):1545-1458.
    PMID: 21995608
  99. Ko, WY, KA Kaercher, E Giombini, P Marcatili, A Froment, M Ibrahim, G Lema, TB Nyambo, SA Omar, C Wambebe, A Ranciaro, JB Hirbo, and SA Tishkoff (2011) Effects of natural selection and gene conversion on the evolution of human glycophorins coding for MNS blood polymorphisms in malaria-endemic African populations. American Journal of Human Genetics 88(6):741-754.
    PMID: 21664997
  100. Gonder, MK, S Locatelli, L Ghobrial, MW Mitchell, JT Kujawski, FJ Lankester, C-B Stewart, and SA Tishkoff (2011) Evidence from Cameroon reveals differences in the genetic structure and histories of chimpanzee populations. Proceedings of the National Academy of Sciences 108(12):4766-4771.
    PMID: 21368170
  101. Heard, E, SA Tishkoff, JA Todd, M Vidal, GP Wagner, J Wang, D Weigel, and R Young (2010) Ten years of genetics and genomics: what have we achieved and where are we heading? Nature Reviews Genetics 11(10):723-733.
    PMID: 20820184
  102. Scheinfeldt, LB, S Soi, and SA Tishkoff (2010) Colloquium paper: working toward a synthesis of archaeological, linguistic, and genetic data for inferring African population history. Proceedings of the National Academy of Sciences 107(2):8931-8938.
    PMID: 20445100
  103. Scheinfeldt, LB and SA Tishkoff (2010) Living the high life: high-altitude adaptation. Genome Biology 11(9):133.
    PMID: PMC2965377
  104. Campbell, MC and SA Tishkoff (2010) The evolution of human genetic and phenotypic variation in Africa. Current Biology 20(4): R166-173.
    PMID: PMC2945812
  105. Bryc, K, A Auton, MR Nelson, JR Oksenberg, SL Hauser, S Williams, A Froment, JM Bodo, C Wambebe, SA Tishkoff*, and CD Bustamante* (2010) Genome-wide patterns of population structure and admixture in West Africans and African Americans. Proceedings of the National Academy of Sciences 107(2): 786-791.
    Notes: *Contributed equally as co-senior authors.
    PMID: 20080753
  106. Tishkoff, SA, FA Reed, FR Friedlaender, C Ehret, A Ranciaro, A Froment,  JB Hirbo, AA Awomoyi, JM Bodo, O Doumbo, M Ibrahim, AT Juma, MJ Kotze, G Lema, JH Moore, H Mortensen, TB Nyambo, SA Omar, K Powell, G Pretorius, MW Smith, MA Thera, C Wambebe, JL Weber, and SM Williams (2009) The genetic structure and history of Africans and African Americans. Science 324(5930):1035-1044.
    PMID: 19407144 / Supplemental files
  107. Lambert, CA, and SA Tishkoff (2009) Genetic structure in African populations: implications for human demographic history. Cold Spring Harbor Symposia on Quantitative Biology 74:395-402.
    PMID: 20453204
  108. Henn, BM, C Gignoux, AA Lin, PJ Oefner, P Shen, R Scozzari, F Cruciani, SA Tishkoff, JL Mountain, and PA Underhill (2008) Y-chromosomal evidence of a pastoralist migration through Tanzania to southern Africa. Proceedings of the National Academy of Sciences 105(31):10693-10698.
    PMID: 18678889
  109. Simpson, K, and SA Tishkoff (2008) Genetics: from DNA to designer dogs. Textbook National Geographic
  110. Sirugo, G, BJ Hennig, AA Adeyemo, A Matimba, MJ Newport, ME Ibrahim, KK Ryckman, A Tacconelli, R Mariani-Costantini, G Novelli, H Soodyall, CN Rotimi, RS Ramesar, SA Tishkoff, and SM Williams (2008) Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics. Human Genetics 123(6):557-598.
    PMID: 18512079
  111. Campbell, MC and SA Tishkoff (2008) African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annual Review Genomics and Human Genetics 9:403-433.
    PMID: 18593304
  112. Tishkoff, SA, FA Reed, A Ranciaro, BF Voight, CC Babbitt, JS Silverman,  K Powell, HM Mortensen, JB Hirbo, M Osman, M Ibrahim, SA Omar, G Lema, TB Nyambo, J Ghori, S Bumpstead, JK Pritchard, GA Wray, and P Deloukas (2007) Convergent adaptation of human lactase persistence in Africa and Europe. Nature Genetics 39(1):31-40.
    PMID: 17159977
  113. Shimada, MK, K Panchapakesan, SA Tishkoff, AQ Nato, Jr, and J Hey (2007) Divergent haplotypes and human history as revealed in a worldwide survey of X-linked DNA sequence variation. Molecular Biology and Evolution 24(3):687-698.
    PMID: 17175528
  114. Lind, JM, HB Hutcheson-Dilks, SM Williams, JH Moore, M Essex, E Ruiz-Pesini, DC Wallace, SA Tishkoff, SJ O'Brien, and MW Smith (2007) Elevated male European and female African contributions to the genomes of African American individuals. Human Genetics 120(5):713-722.
    PMID: 17006671
  115. Gonder, MK, HM Mortensen, FA Reed, A de Sousa, and SA Tishkoff (2007) Whole-mtDNA genome sequence analysis of ancient African lineages. Molecular Biology and Evolution 24(3):757-768.
    PMID: 1719480
  116. Tishkoff, SA, MK Gonder, BM Henn, H Mortensen, N Fernandopulle, C Gignoux, A Knight, PA Underhill, U Ramakrishnan, FA Reed, and JL Mountain (2007) History of click-speaking populations of Africa inferred from mtDNA and Y chromosome genetic variation. Molecular Biology and Evolution 24(10):2180-2195.
    PMID: 17656633
  117. Tishkoff, SA and MK Gonder (2006) Human origins within and out of Africa. Anthropological Genetics. M Crawford (Eds.) Cambridge University Press.
  118. Reed, FA and SA Tishkoff (2006) African human diversity, origins, and migrations. Current Opinion in Genetics and Development 16(6):597-605.
    PMID: 17056248
  119. Wang, J, L Song, MK Gonder, S Azrak, DA Ray, MA Batzer, SA Tishkoff, and P Liang (2006) Whole genome computational comparative genomics: A fruitful approach for ascertaining Alu insertion polymorphisms. Gene 365:11-20.
    PMID: 16376498
  120. Verrelli, BC, SA Tishkoff, AC Stone, and JW Touchman (2006) Contrasting histories of G6PD molecular evolution and malarial resistance in humans and chimpanzees. Molecular Biology and Evolution 23(8):1592-1601.
    PMID: 16751255
  121. Reed FA, and SA Tishkoff (2006) Positive selection can create false hotspots of recombination. Genetics 172(3):2011-2014.
    PMID: 16387873
  122. Awomoyi A, G Sirugo, MJ Newport, and SA Tishkoff (2006) Global distribution of a novel trinucleotide microsatellite polymorphism (ATA)n in intron 8 of the SLC11A1 gene and susceptibility to pulmonary Tuberculosis. European Journal of Immunogenetics 33(1):11-15.
    PMID: 16426236
  123. Tarazona-Santos, E, and SA Tishkoff (2005) Divergent patterns of linkage disequilibrium and haplotype structure across global populations at the interleukin-13 (IL13) locus. Genes and Immunity 6(1):53-65.
    PMID: 15602587
  124. Shriver MD, R Mei, EJ Parra, V Sonpar, I Halder, SA Tishkoff, TG Schurr, SI Zhadanov, LP Osipova, T Brutsaert, J Friedlaender, LB Jorde, WS Watkins, MJ Bamshad, G Gutierez, H Loi, H Matsuzaki, G Argyropoulos, J Fernandez, RA Kittles, JM Akey, and K Jones (2005) Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation. Human Genomics 2(81):81-89.
    PMID: 16004724
  125. Mekel-Bobrov N, SL Gilbert, PD Evans, EJ Vallender, JR Anderson, RR Hudson, SA Tishkoff, and BT Lahn (2005) Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science 309:1720-1722.
    PMID: 16151010
  126. Evans PD, SL Gilbert, N Mekel-Bobrov, EJ Vallender, JR Anderson, LM Vaez-Azizi, SA Tishkoff, RR Hudson, BT Lahn (2005) Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science 309: 1717-1720.
    PMID: 16151009
  127. Tishkoff, SA and BJ Verrelli (2004) G6PD deficiency and malarial resistance in humans: insights from evolutionary genetic analyses   Evolutionary Aspects of Infectious Disease K. Dronamraju (Eds.) Cambridge University Press.
  128. Verrelli, BJ and SA Tishkoff (2004) Signatures of selection and gene conversion associated with human color vision variation. American Journal of Human Genetics 75(3):363-375.
    PMID: 15252758 / Supplemental files
  129. Tishkoff, SA and KK Kidd (2004) Implications of biogeography of human populations for ''race'' and medicine. Nature Genetics 36(11): S21-27.
    PMID: 15507999
  130. Smith MW, NJ Patterson, JA Lautenberger, AL Truelove, GJ McDonald, BD Kessing, Z Yi, G deThe, M Essex, PJ Kanki, JP Phair, JJ Goedert, D Vlahov, RE Ferrell, SM Williams, SA Tishkoff, CA Winkler, FM DeLaVega, T Woodage, D Altshuler, JJ Sninsky, DA Gilbert, DA Hafler, SJ O'Brien, and DE Reich (2004) A high density ancestry map for disease gene discovery in African Americans. American Journal of Human Genetics 74(5):1001-1013.
    PMID: 15088270
  131. Drousiotou, A,  E Touma, N Andreou, J Loiselet, M Angastiniotis, B Verrelli, S Tishkoff (2004) Molecular characterization of G6PD deficiency in Cyprus. Blood Cells Molecular Disease 33:25-30.
    PMID: 15223006
  132. Tishkoff, SA and BJ Verrrelli (2003) Role of evolutionary history on haplotype block structure in the human genome: implications for disease mapping. Current Opinion in Genetics and Development 13(6): 569-575.
    PMID: 14638316
  133. Tishkoff, SA and BJ Verrelli (2003) Patterns of human genetic diversity: Implications for human evolutionary history and human disease. Annual Review Genomics and Human Genetics 4:293-340.
    PMID: 14527305
  134. Tishkoff, SA and SM Williams (2002) Genetic analysis of African populations: Human evolution and complex disease.  Nature Reviews Genetics 3(8):611-621.
    PMID: 12154384
  135. Verrelli, BC,  JH McDonald, G Argyropoulos, G Destro-Bisol, A Froment, A Drousiotou, G Lefranc, AN Helal, J Loiselet, and SA Tishkoff (2002) Evidence for balancing selection from nucleotide sequence analyses of human G6PD. American Journal of Human Genetics 71(5): 1112-1128.
    PMID: 12378426 / Supplemental files
  136. Tishkoff, SA, R Varkonyi, N Cahinhinan, S Abbes, G Argyropoulos, G Destro-Bisol, A Drousiotou, B Dangerfield, G Lefranc, J Loiselet, A Piro, M Stoneking, A Tagarelli, G Tagarelli, EH Touma, SM Williams, and AG Clark (2001) Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance. Science 293(5529):455-462.
    PMID: 11423617
  137. Tishkoff, SA, AJ Pakstis, G Ruano, and KK Kidd (2000) The accuracy of statistical methods for estimation of haplotype frequencies: an example from the CD4 locus. American Journal of Human Genetics 67(2):518-522.
    PMID: 10859209
  138. Tishkoff SA, AJ Pakstis, M Stoneking, JR Kidd, G Destro-Bisol, A Sanjantila, R Lu, AS Deinard, G Sirugo, T Jenkins, KK Kidd, and AG Clark (2000) Short tandem-repeat polymorphism/Alu haplotype variation at the PLAT locus: implications for modern human origins. American Journal of Human Genetics 67(4): 901-925.
    PMID: 10986042
  139. Tishkoff, SA, AJ Pakstis, S Michalatos-Beloin, G Ruano, and KK Kidd (2000) A comparison of molecular and statistical methods for estimating haplotype frequencies as illustrated by highly polymorphic STRP data. American Journal of Human Genetics 67(2):518-522.
    PMID: PMC1287198
  140. Destro-Bisol, G, R Maviglia, A Caglia, I Boschi, G Spedini, V Pascali, A Clark, and S Tishkoff (1999) Estimating European admixture in African Americans by using microsatellites and a microsatellite haplotype (CD4/Alu). Human Genetics 104(2):149-157.
    PMID: 10190326
  141. Tishkoff, SA, KK Kidd, and AG Clark (1998) Inferences of modern human origins from variation in CD4 haplotypes. In Proceedings of the Trinational Workshop on Molecular Evolution. MK Uyenoyama and A von Haeseler (Eds.) Duke University Publications Group, Pages:181-198.
  142. Zietkiweicz, E, V Yotova, M Jarnik, M Korab-Laskowska, KK Kidd, D Modiano, R Scozzari, M Stoneking, SA Tishkoff, M Batzer, and D Labuda (1998) Genetic structure of the ancestral population of modern humans. Journal of Molecular Evolution 47:146-155.
    PMID: 9694663
  143. Tishkoff, SA, A Goldman, F Calafell, WC Speed, AS Deinard, B Bonne-Tamir, JR  Kidd, AJ Pakstis, T Jenkins, and KK Kidd (1998) A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. American Journal of Human Genetics 62(6):1389-1402.
    PMID: 9585589
  144. Zietkiewicz, E, V Yotova, M Jarnik, M Korab-Laskowska, KK Kidd, D Modiano, R Scozzari, M Stoneking, SA Tishkoff, M Batzer, and D Labuda (1997) Nuclear DNA diversity in worldwide distributed human populations. Gene 205(1-2): 161-171.
    PMID: 9461390
  145. Tishkoff, SA, E Dietzsch, W Speed, AJ Pakstis, K Cheung, JR Kidd, B Bonné-Tamir, AS Santachiara-Benerecetti, P Moral, E Watson, M Krings, S Pääbo, N Risch, T Jenkins, and KK Kidd (1996) Global patterns of linkage disequilibrium at the CD4 locus and modern human origins. Science 271(5254):1380-1387.
    PMID: 8596909
  146. Tishkoff, SA, G Ruano, JR Kidd, and KK Kidd (1996) Distribution and frequency of a polymorphic Alu insertion at the plasminogen activator locus in humans. Human Genetics 97(6):759-764.
    PMID: 8641693
  147. Michalatos-Beloin*, S, SA Tishkoff*, KL Bentley, KK Kidd, and G Ruano (1996) Molecular haplotyping of genetic markers 10 kb apart by allele-specific long-range PCR. Nucleic Acids Research 24(23):4841-4843.
    Notes: *These authors contributed equally.
    PMID: 8972876
  148. Tishkoff, SA, KK Kidd, and N Risch (1996) Interpretations of multiregional evolution. Science [Letter to the Editor] 274.
    PMID: 17735319
  149. Risch, N, KK Kidd, and SA Tishkoff (1996) Genetic data and the African origin of humans. Science 274:1548-1549.
    PMID: 17816998
  150. Ruano, G, AS Deinard, S Tishkoff, and KK Kidd (1994) Detection of DNA sequence variation via deliberate heteroduplex formation from genomic DNAs amplified en masse in "population tubes". PCR Methods and Applications 3(4):225-231.
    PMID: 8173512