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A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, K… See abstract for full author list ➔ Fritsche LG, et al. Among authors: courtenay md. Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691988 Free PMC article.
Whole exome sequencing of extreme age-related macular degeneration phenotypes.
Sardell RJ, Bailey JN, Courtenay MD, Whitehead P, Laux RA, Adams LD, Fortun JA, Brantley MA Jr, Kovach JL, Schwartz SG, Agarwal A, Scott WK, Haines JL, Pericak-Vance MA. Sardell RJ, et al. Among authors: courtenay md. Mol Vis. 2016 Aug 29;22:1062-76. eCollection 2016. Mol Vis. 2016. PMID: 27625572 Free PMC article.
Mitochondrial haplogroup X is associated with successful aging in the Amish.
Courtenay MD, Gilbert JR, Jiang L, Cummings AC, Gallins PJ, Caywood L, Reinhart-Mercer L, Fuzzell D, Knebusch C, Laux R, McCauley JL, Jackson CE, Pericak-Vance MA, Haines JL, Scott WK. Courtenay MD, et al. Hum Genet. 2012 Feb;131(2):201-8. doi: 10.1007/s00439-011-1060-3. Epub 2011 Jul 13. Hum Genet. 2012. PMID: 21750925 Free PMC article.