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Page 1
Integrated detection and population-genetic analysis of SNPs and copy number variation.
McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, Elliott AL, Parkin M, Hubbell E, Webster T, Mei R, Veitch J, Collins PJ, Handsaker R, Lincoln S, Nizzari M, Blume J, Jones KW, Rava R, Daly MJ, Gabriel SB, Altshuler D. McCarroll SA, et al. Nat Genet. 2008 Oct;40(10):1166-74. doi: 10.1038/ng.238. Epub 2008 Sep 7. Nat Genet. 2008. PMID: 18776908
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research; Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, Florez JC, Meyer J, Ardlie K, Bengtsson Boström K, Isomaa B, Lettre G, Lindblad U, Lyon HN, Melander O, Newton-Cheh C, Nilsson P, Orho-Melander M, Råstam L, Speliotes EK, Taskinen MR, Tuomi T, Guiducci C, Berglund A, Carlson J, Gianniny L, Hackett R, Hall L, Holmkvist J, Laurila E, Sjögren M, Sterner M, Surti A, Svensson M, Svensson M, Tewhey R, Blumenstiel B, Parkin M, Defelice M, Barry R, Brodeur W, Camarata J, Chia N, Fava M, Gibbons J, Handsaker B, Healy C, Nguyen K, Gates C, Sougnez C, Gage D, Nizzari M, Gabriel SB, Chirn GW, Ma Q, Parikh H, Richardson D, Ricke D, Purcell S. Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research, et al. Science. 2007 Jun 1;316(5829):1331-6. doi: 10.1126/science.1142358. Epub 2007 Apr 26. Science. 2007. PMID: 17463246
Candidate gene association resource (CARe): design, methods, and proof of concept.
Musunuru K, Lettre G, Young T, Farlow DN, Pirruccello JP, Ejebe KG, Keating BJ, Yang Q, Chen MH, Lapchyk N, Crenshaw A, Ziaugra L, Rachupka A, Benjamin EJ, Cupples LA, Fornage M, Fox ER, Heckbert SR, Hirschhorn JN, Newton-Cheh C, Nizzari MM, Paltoo DN, Papanicolaou GJ, Patel SR, Psaty BM, Rader DJ, Redline S, Rich SS, Rotter JI, Taylor HA Jr, Tracy RP, Vasan RS, Wilson JG, Kathiresan S, Fabsitz RR, Boerwinkle E, Gabriel SB; NHLBI Candidate Gene Association Resource. Musunuru K, et al. Among authors: nizzari mm. Circ Cardiovasc Genet. 2010 Jun;3(3):267-75. doi: 10.1161/CIRCGENETICS.109.882696. Epub 2010 Apr 17. Circ Cardiovasc Genet. 2010. PMID: 20400780 Free PMC article.
Next-generation carrier screening.
Umbarger MA, Kennedy CJ, Saunders P, Breton B, Chennagiri N, Emhoff J, Greger V, Hallam S, Maganzini D, Micale C, Nizzari MM, Towne CF, Church GM, Porreca GJ. Umbarger MA, et al. Among authors: nizzari mm. Genet Med. 2014 Feb;16(2):132-40. doi: 10.1038/gim.2013.83. Epub 2013 Jun 13. Genet Med. 2014. PMID: 23765052 Free PMC article.
Orthogonal NGS for High Throughput Clinical Diagnostics.
Chennagiri N, White EJ, Frieden A, Lopez E, Lieber DS, Nikiforov A, Ross T, Batorsky R, Hansen S, Lip V, Luquette LJ, Mauceli E, Margulies D, Milos PM, Napolitano N, Nizzari MM, Yu T, Thompson JF. Chennagiri N, et al. Among authors: nizzari mm. Sci Rep. 2016 Apr 19;6:24650. doi: 10.1038/srep24650. Sci Rep. 2016. PMID: 27090146 Free PMC article.