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Page 1
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES. Mootha VK, et al. Among authors: sladek r. Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):605-10. doi: 10.1073/pnas.242716699. Epub 2003 Jan 14. Proc Natl Acad Sci U S A. 2003. PMID: 12529507 Free PMC article.
A survey of genetic and epigenetic variation affecting human gene expression.
Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brändström H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl MC, Naumova AK, Sinnett D, Hudson TJ. Pastinen T, et al. Among authors: sladek r. Physiol Genomics. 2004 Jan 15;16(2):184-93. doi: 10.1152/physiolgenomics.00163.2003. Physiol Genomics. 2004. PMID: 14583597
Mapping cis-acting regulatory variation in recombinant congenic strains.
Lee PD, Ge B, Greenwood CM, Sinnett D, Fortin Y, Brunet S, Fortin A, Takane M, Skamene E, Pastinen T, Hallett M, Hudson TJ, Sladek R. Lee PD, et al. Among authors: sladek r. Physiol Genomics. 2006 Apr 13;25(2):294-302. doi: 10.1152/physiolgenomics.00168.2005. Epub 2006 Jan 31. Physiol Genomics. 2006. PMID: 16449383
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium; Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ. Rivas MA, et al. PLoS Genet. 2018 May 24;14(5):e1007329. doi: 10.1371/journal.pgen.1007329. eCollection 2018 May. PLoS Genet. 2018. PMID: 29795570 Free PMC article.
217 results