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A structural variation reference for medical and population genetics.
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Collins RL, et al. Among authors: gabriel s. Nature. 2020 May;581(7809):444-451. doi: 10.1038/s41586-020-2287-8. Epub 2020 May 27. Nature. 2020. PMID: 32461652 Free PMC article.
Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping.
Sawcer SJ, Maranian M, Singlehurst S, Yeo T, Compston A, Daly MJ, De Jager PL, Gabriel S, Hafler DA, Ivinson AJ, Lander ES, Rioux JD, Walsh E, Gregory SG, Schmidt S, Pericak-Vance MA, Barcellos L, Hauser SL, Oksenberg JR, Kenealy SJ, Haines JL. Sawcer SJ, et al. Among authors: gabriel s. Hum Mol Genet. 2004 Sep 1;13(17):1943-9. doi: 10.1093/hmg/ddh202. Epub 2004 Jul 6. Hum Mol Genet. 2004. PMID: 15238506
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE. Greenway SC, et al. Among authors: gabriel s. Nat Genet. 2009 Aug;41(8):931-5. doi: 10.1038/ng.415. Epub 2009 Jul 13. Nat Genet. 2009. PMID: 19597493 Free PMC article.
The landscape of somatic copy-number alteration across human cancers.
Beroukhim R, Mermel CH, Porter D, Wei G, Raychaudhuri S, Donovan J, Barretina J, Boehm JS, Dobson J, Urashima M, Mc Henry KT, Pinchback RM, Ligon AH, Cho YJ, Haery L, Greulich H, Reich M, Winckler W, Lawrence MS, Weir BA, Tanaka KE, Chiang DY, Bass AJ, Loo A, Hoffman C, Prensner J, Liefeld T, Gao Q, Yecies D, Signoretti S, Maher E, Kaye FJ, Sasaki H, Tepper JE, Fletcher JA, Tabernero J, Baselga J, Tsao MS, Demichelis F, Rubin MA, Janne PA, Daly MJ, Nucera C, Levine RL, Ebert BL, Gabriel S, Rustgi AK, Antonescu CR, Ladanyi M, Letai A, Garraway LA, Loda M, Beer DG, True LD, Okamoto A, Pomeroy SL, Singer S, Golub TR, Lander ES, Getz G, Sellers WR, Meyerson M. Beroukhim R, et al. Among authors: gabriel s. Nature. 2010 Feb 18;463(7283):899-905. doi: 10.1038/nature08822. Nature. 2010. PMID: 20164920 Free PMC article.
A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries.
Fisher S, Barry A, Abreu J, Minie B, Nolan J, Delorey TM, Young G, Fennell TJ, Allen A, Ambrogio L, Berlin AM, Blumenstiel B, Cibulskis K, Friedrich D, Johnson R, Juhn F, Reilly B, Shammas R, Stalker J, Sykes SM, Thompson J, Walsh J, Zimmer A, Zwirko Z, Gabriel S, Nicol R, Nusbaum C. Fisher S, et al. Among authors: gabriel s. Genome Biol. 2011;12(1):R1. doi: 10.1186/gb-2011-12-1-r1. Epub 2011 Jan 4. Genome Biol. 2011. PMID: 21205303 Free PMC article.
Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.
Shea J, Agarwala V, Philippakis AA, Maguire J, Banks E, Depristo M, Thomson B, Guiducci C, Onofrio RC, Kathiresan S, Gabriel S, Burtt NP, Daly MJ, Groop L, Altshuler D; Myocardial Infarction Genetics Consortium. Shea J, et al. Among authors: gabriel s. Nat Genet. 2011 Jul 24;43(8):801-5. doi: 10.1038/ng.871. Nat Genet. 2011. PMID: 21775993 Free PMC article.
1,617 results