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Using population admixture to help complete maps of the human genome.
Genovese G, Handsaker RE, Li H, Altemose N, Lindgren AM, Chambert K, Pasaniuc B, Price AL, Reich D, Morton CC, Pollak MR, Wilson JG, McCarroll SA. Genovese G, et al. Among authors: pollak mr. Nat Genet. 2013 Apr;45(4):406-14, 414e1-2. doi: 10.1038/ng.2565. Epub 2013 Feb 24. Nat Genet. 2013. PMID: 23435088 Free PMC article.
Population-based risk assessment of APOL1 on renal disease.
Friedman DJ, Kozlitina J, Genovese G, Jog P, Pollak MR. Friedman DJ, et al. Among authors: pollak mr. J Am Soc Nephrol. 2011 Nov;22(11):2098-105. doi: 10.1681/ASN.2011050519. Epub 2011 Oct 13. J Am Soc Nephrol. 2011. PMID: 21997396 Free PMC article.
APOL1 and kidney disease.
Pollak MR, Genovese G, Friedman DJ. Pollak MR, et al. Curr Opin Nephrol Hypertens. 2012 Mar;21(2):179-82. doi: 10.1097/MNH.0b013e32835012ab. Curr Opin Nephrol Hypertens. 2012. PMID: 22257798 Review.
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Kirby A, et al. Among authors: pollak mr. Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10. Nat Genet. 2013. PMID: 23396133 Free PMC article.
224 results