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Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases.
Weeks EM, Ulirsch JC, Cheng NY, Trippe BL, Fine RS, Miao J, Patwardhan TA, Kanai M, Nasser J, Fulco CP, Tashman KC, Aguet F, Li T, Ordovas-Montanes J, Smillie CS, Biton M, Shalek AK, Ananthakrishnan AN, Xavier RJ, Regev A, Gupta RM, Lage K, Ardlie KG, Hirschhorn JN, Lander ES, Engreitz JM, Finucane HK. Weeks EM, et al. Among authors: hirschhorn jn. Nat Genet. 2023 Aug;55(8):1267-1276. doi: 10.1038/s41588-023-01443-6. Epub 2023 Jul 13. Nat Genet. 2023. PMID: 37443254 Free PMC article.
Detection of regulatory variation in mouse genes.
Cowles CR, Hirschhorn JN, Altshuler D, Lander ES. Cowles CR, et al. Among authors: hirschhorn jn. Nat Genet. 2002 Nov;32(3):432-7. doi: 10.1038/ng992. Epub 2002 Oct 15. Nat Genet. 2002. PMID: 12410233
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: hirschhorn jn. 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: hirschhorn jn. Nat Genet. 2004 Apr;36(4):388-93. doi: 10.1038/ng1333. Epub 2004 Mar 28. Nat Genet. 2004. PMID: 15052270
Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes.
Florez JC, Sjögren M, Burtt N, Orho-Melander M, Schayer S, Sun M, Almgren P, Lindblad U, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, Groop L. Florez JC, et al. Among authors: hirschhorn jn. Diabetes. 2004 Dec;53(12):3313-8. doi: 10.2337/diabetes.53.12.3313. Diabetes. 2004. PMID: 15561965
Demonstrating stratification in a European American population.
Campbell CD, Ogburn EL, Lunetta KL, Lyon HN, Freedman ML, Groop LC, Altshuler D, Ardlie KG, Hirschhorn JN. Campbell CD, et al. Among authors: hirschhorn jn. Nat Genet. 2005 Aug;37(8):868-72. doi: 10.1038/ng1607. Epub 2005 Jul 24. Nat Genet. 2005. PMID: 16041375
368 results