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252 results

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Page 1
A systematic survey of loss-of-function variants in human protein-coding genes.
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IH, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue Y, Romero IG; 1000 Genomes Project Consortium; Wang J, Li Y, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C. MacArthur DG, et al. Among authors: dermitzakis et. Science. 2012 Feb 17;335(6070):823-8. doi: 10.1126/science.1215040. Science. 2012. PMID: 22344438 Free PMC article.
The genetics of regulatory variation in the human genome.
Stranger BE, Dermitzakis ET. Stranger BE, et al. Among authors: dermitzakis et. Hum Genomics. 2005 Jun;2(2):126-31. doi: 10.1186/1479-7364-2-2-126. Hum Genomics. 2005. PMID: 16004727 Free PMC article. Review.
Genome-wide associations of gene expression variation in humans.
Stranger BE, Forrest MS, Clark AG, Minichiello MJ, Deutsch S, Lyle R, Hunt S, Kahl B, Antonarakis SE, Tavaré S, Deloukas P, Dermitzakis ET. Stranger BE, et al. Among authors: dermitzakis et. PLoS Genet. 2005 Dec;1(6):e78. doi: 10.1371/journal.pgen.0010078. Epub 2005 Dec 16. PLoS Genet. 2005. PMID: 16362079 Free PMC article.
Functional variation and evolution of non-coding DNA.
Bird CP, Stranger BE, Dermitzakis ET. Bird CP, et al. Among authors: dermitzakis et. Curr Opin Genet Dev. 2006 Dec;16(6):559-64. doi: 10.1016/j.gde.2006.10.003. Epub 2006 Oct 19. Curr Opin Genet Dev. 2006. PMID: 17055246 Review.
Genome variation and evolution of the malaria parasite Plasmodium falciparum.
Jeffares DC, Pain A, Berry A, Cox AV, Stalker J, Ingle CE, Thomas A, Quail MA, Siebenthall K, Uhlemann AC, Kyes S, Krishna S, Newbold C, Dermitzakis ET, Berriman M. Jeffares DC, et al. Among authors: dermitzakis et. Nat Genet. 2007 Jan;39(1):120-5. doi: 10.1038/ng1931. Epub 2006 Dec 10. Nat Genet. 2007. PMID: 17159978 Free PMC article.
Relative impact of nucleotide and copy number variation on gene expression phenotypes.
Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, Redon R, Bird CP, de Grassi A, Lee C, Tyler-Smith C, Carter N, Scherer SW, Tavaré S, Deloukas P, Hurles ME, Dermitzakis ET. Stranger BE, et al. Among authors: dermitzakis et. Science. 2007 Feb 9;315(5813):848-53. doi: 10.1126/science.1136678. Science. 2007. PMID: 17289997 Free PMC article.
Fast-evolving noncoding sequences in the human genome.
Bird CP, Stranger BE, Liu M, Thomas DJ, Ingle CE, Beazley C, Miller W, Hurles ME, Dermitzakis ET. Bird CP, et al. Among authors: dermitzakis et. Genome Biol. 2007;8(6):R118. doi: 10.1186/gb-2007-8-6-r118. Genome Biol. 2007. PMID: 17578567 Free PMC article.
Population genomics of human gene expression.
Stranger BE, Nica AC, Forrest MS, Dimas A, Bird CP, Beazley C, Ingle CE, Dunning M, Flicek P, Koller D, Montgomery S, Tavaré S, Deloukas P, Dermitzakis ET. Stranger BE, et al. Among authors: dermitzakis et. Nat Genet. 2007 Oct;39(10):1217-24. doi: 10.1038/ng2142. Epub 2007 Sep 16. Nat Genet. 2007. PMID: 17873874 Free PMC article.
Genome-wide detection and characterization of positive selection in human populations.
Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES; International HapMap Consortium; Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallée C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado … See abstract for full author list ➔ Sabeti PC, et al. Among authors: dermitzakis et. Nature. 2007 Oct 18;449(7164):913-8. doi: 10.1038/nature06250. Nature. 2007. PMID: 17943131 Free PMC article.
The functional impact of structural variation in humans.
Hurles ME, Dermitzakis ET, Tyler-Smith C. Hurles ME, et al. Among authors: dermitzakis et. Trends Genet. 2008 May;24(5):238-45. doi: 10.1016/j.tig.2008.03.001. Epub 2008 Apr 2. Trends Genet. 2008. PMID: 18378036 Free PMC article. Review.
252 results