Recent Publications
*Cargill, M., *Altshuler, D, et. al. (1999) ÒCharacterization of Single Nucleotide Polymorphisms in Coding Regions of Human Genes." Nature Genetics 22, 231-238. (*These authors contributed equally to this work).
*Altshuler, D., *Hirschhorn, J., et al. (2000)ÒThe common PPAR gamma Pro12Ala polymorphism is associated with decreased risk of type II diabetes." Nature Genetics 26:76-80. (*These authors contributed equally to this work.)
Altshuler, D., et al. (2000)ÒAn SNP map of the human genome generated by reduced representation shotgun sequencing.Ó Nature 407:513-516
The International SNP Map Working Group: Sachidanandam, R, Weissman, D, Schmidt, SC, Kakol, JK, Stein, LD, Marth G Sherry, D, Mullikin, JC, Mortimore, BJ, Willey, D, Hunt, SE, Cole, CG, Coggill, PC, Rice, CM, Ning, Z, Rogers, J, Bentley, DR, Kwok, P-Y, Mardis, ER, Yeh, RT, Schultz, B, Cook, L, Davenport, R, Dante, R, Fulton, L, Waterston, RH, McPherson, JD, Gilman, B, Schaffner, SF, Van Etten, WJ, Reich, DE, Higgins, J, Blumenstiel, B, Baldwin, J, Stange-Thomann, N, Zody, MC, Linton, LM, Lander, ES, and Altshuler, D, (2001)ÒA map of human genome sequence variation containing 1.4 million SNPs,Ó Nature 409:928-933.
Hirschhorn, J.N., Lindgren, C.M., Daly, M.J., Kirby, A., Schaffner, S.F., Burtt, N.P., Altshuler, D., Parker, A., Rioux, J.D., Platko, J., Gaudet, D., Hudson, T.J., Groop, L.C., Lander, E.S. (2001). Genome-wide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Am. J. Hum. Genet. 16:106-16.
Gabriel1 SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel1 B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, and Altshuler, D. (2002) ÒThe structure of haplotypes in the human genome,Ó Science 296, 2225-2229 (Published online doi;10.1126/science.1069424)
Sabeti,P., Reich,D., Higgins,J., Levine,H., Richter,D., Schaffner,S., Gabriel,S., Platko,J., Patterson,N., McDonald,G., Ackerman,H., Campbell,S., Altshuler,D., Cooper,R., Kwiatkowski,D., Ward,R. and Lander,E.S. ÒDetecting recent positive selection in the human genome from haplotype structureÓ Nature 419:832–837 (Published online doi:10.1038/nature01140)
Cowles,C., Hirschhorn,J.N., Altshuler,D., and Lander,E.S. ÒDetection of regulatory polymorphism in mouse genesÓ. Nature Genetics 32:432–437 (Published online doi:10.1038/ng992).
Schaffner, S.F., Daly, M.J., McVean, G., Mullikin, J.C., Higgins, J.M, Richter, D.J., Lander, E.S., Altshuler, D. (2002) ÒHuman genome sequence variation and the influence of gene history, mutation and recombination.Ó Nature Genetics 32(1),135-42.
Reich, DE, Gabriel, SB, and Altshuler, D, ÒQuality and Completeness of SNP DatabasesÓ, Nat Genet. 2003 Apr;33(4):457-8 (Published online: doi:10.1038/ng1133)
Reviews, Chapters, and Editorials:
Altshuler, D., Kruglyak, L., and Lander, E. "Genetic Polymorphisms and Disease." New England Journal of Medicine 1998; 338 (22):1626
Altshuler, D. and Hirschhorn, J. ÒUpsetting the balance: Vgf and the control of energy expenditure," Neuron 1999;22:415-517.
Altshuler, D., Daly, M and Kruglyak, L. ÒGuilt by Association." Nature Genetics 2000;26:135-137.
Hirschhorn, J.N. and Altshuler,D. (2002)ÒEditorial: Once and Again - Issues Surrounding Replication in Genetic Association StudiesÓ. Journal of Endocrinology & Metabolism 87(10), 4438-4441.
Florez, J. and Altshuler, D., (2002) "The Inherited Basis of Type 2 Diabetes: Current Knowledge and Future Prospects", Endocrine Rounds, 1 (9), 1-6
Hirschhorn, J.N, Pearce, C.L., and Altshuler, D (2003) "Genomic approaches to the genetics of hormone-responsive cancers", Hormones and Cancer, Henderson, Ponder and Ross, eds, in press at Oxford University Press.
Florez, J, Hirschhorn, JN, and Altshuler, D (2003) ÒThe inherited basis of diabetes mellitus: general lessons for the genetic analysis of complex traitsÓ, in press at Annual Reviews of Human Genetics and Genomics.
Altshuler, D (2003) ÒThe Inherited Basis of Common DiseaseÓ, in press at CecilÕs Textbook of Medicine.
