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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK. Calvo SE, et al. Among authors: altshuler d. Nat Genet. 2010 Oct;42(10):851-8. doi: 10.1038/ng.659. Epub 2010 Sep 5. Nat Genet. 2010. PMID: 20818383 Free PMC article.
Detection of regulatory variation in mouse genes.
Cowles CR, Hirschhorn JN, Altshuler D, Lander ES. Cowles CR, et al. Among authors: altshuler d. Nat Genet. 2002 Nov;32(3):432-7. doi: 10.1038/ng992. Epub 2002 Oct 15. Nat Genet. 2002. PMID: 12410233
Quality and completeness of SNP databases.
Reich DE, Gabriel SB, Altshuler D. Reich DE, et al. Among authors: altshuler d. Nat Genet. 2003 Apr;33(4):457-8. doi: 10.1038/ng1133. Epub 2003 Mar 24. Nat Genet. 2003. PMID: 12652301
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes.
Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstråle M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, Tamayo P, Spiegelman B, Lander ES, Hirschhorn JN, Altshuler D, Groop LC. Mootha VK, et al. Among authors: altshuler d. Nat Genet. 2003 Jul;34(3):267-73. doi: 10.1038/ng1180. Nat Genet. 2003. PMID: 12808457
Assessing the impact of population stratification on genetic association studies.
Freedman ML, Reich D, Penney KL, McDonald GJ, Mignault AA, Patterson N, Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander ES, Sklar P, Henderson B, Hirschhorn JN, Altshuler D. Freedman ML, et al. Among authors: altshuler d. Nat Genet. 2004 Apr;36(4):388-93. doi: 10.1038/ng1333. Epub 2004 Mar 28. Nat Genet. 2004. PMID: 15052270
Methods for high-density admixture mapping of disease genes.
Patterson N, Hattangadi N, Lane B, Lohmueller KE, Hafler DA, Oksenberg JR, Hauser SL, Smith MW, O'Brien SJ, Altshuler D, Daly MJ, Reich D. Patterson N, et al. Among authors: altshuler d. Am J Hum Genet. 2004 May;74(5):979-1000. doi: 10.1086/420871. Epub 2004 Apr 14. Am J Hum Genet. 2004. PMID: 15088269 Free PMC article.
Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle.
Mootha VK, Handschin C, Arlow D, Xie X, St Pierre J, Sihag S, Yang W, Altshuler D, Puigserver P, Patterson N, Willy PJ, Schulman IG, Heyman RA, Lander ES, Spiegelman BM. Mootha VK, et al. Among authors: altshuler d. Proc Natl Acad Sci U S A. 2004 Apr 27;101(17):6570-5. doi: 10.1073/pnas.0401401101. Epub 2004 Apr 20. Proc Natl Acad Sci U S A. 2004. PMID: 15100410 Free PMC article.
Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids.
Tantisira KG, Lake S, Silverman ES, Palmer LJ, Lazarus R, Silverman EK, Liggett SB, Gelfand EW, Rosenwasser LJ, Richter B, Israel E, Wechsler M, Gabriel S, Altshuler D, Lander E, Drazen J, Weiss ST. Tantisira KG, et al. Among authors: altshuler d. Hum Mol Genet. 2004 Jul 1;13(13):1353-9. doi: 10.1093/hmg/ddh149. Epub 2004 May 5. Hum Mol Genet. 2004. PMID: 15128701
490 results