Publications

  1. 1000 Genomes Project Consortium (2015) A global reference for human genetic variation. Nature 526(7571):68-74.
    PMID: 26432245
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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.
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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.
  17. 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.
  18. Scheinfeldt, LB, and SA Tishkoff (2013) Recent human adaptation: genomic approaches, interpretation and insights. Nature Reviews Genetics 14(10):692-702.
    Med PMID: 24052086
  19. 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
  20. Lachance, J, and SA Tishkoff (2013) Population genomics of human adaptation. Annual Review of Ecology, Evolution, and Systematics 44:123-143.
    Link to article
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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.
  30. 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.
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. Williams, SM and SA Tishkoff (2011) Exploring genomic studies in Africa. Genome Medicine 3(7):45.
    PMID: 21745422
  42. 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
  43. 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
  44. 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
  45. 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
  46. 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
  47. 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
  48. 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
  49. Scheinfeldt, LB and SA Tishkoff (2010) Living the high life: high-altitude adaptation. Genome Biology 11(9):133.
    PMID: PMC2965377
  50. Campbell, MC and SA Tishkoff (2010) The evolution of human genetic and phenotypic variation in Africa. Current Biology 20(4): R166-173.
    PMID: PMC2945812
  51. 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
  52. 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
  53. 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
  54. 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
  55. Simpson, K, and SA Tishkoff (2008) Genetics: from DNA to designer dogs. Textbook National Geographic
  56. 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
  57. 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
  58. 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
  59. 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
  60. 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
  61. 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
  62. 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
  63. Tishkoff, SA and MK Gonder (2006) Human origins within and out of Africa. Anthropological Genetics. M Crawford (Eds.) Cambridge University Press.
  64. Reed, FA and SA Tishkoff (2006) African human diversity, origins, and migrations. Current Opinion in Genetics and Development 16(6):597-605.
    PMID: 17056248
  65. 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
  66. 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
  67. Reed FA, and SA Tishkoff (2006) Positive selection can create false hotspots of recombination. Genetics 172(3):2011-2014.
    PMID: 16387873
  68. 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
  69. 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
  70. 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
  71. 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
  72. 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
  73. 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.
  74. 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
  75. Tishkoff, SA and KK Kidd (2004) Implications of biogeography of human populations for ''race'' and medicine. Nature Genetics 36(11): S21-27.
    PMID: 15507999
  76. 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
  77. 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
  78. 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
  79. 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
  80. 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
  81. 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
  82. 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
  83. 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
  84. 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
  85. 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
  86. 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
  87. 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.
  88. 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
  89. 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
  90. 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
  91. 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
  92. 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
  93. 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
  94. Tishkoff, SA, KK Kidd, and N Risch (1996) Interpretations of multiregional evolution. Science [Letter to the Editor] 274.
    PMID: 17735319
  95. Risch, N, KK Kidd, and SA Tishkoff (1996) Genetic data and the African origin of humans. Science 274:1548-1549.
    PMID: 17816998
  96. 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