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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: kovach jl. 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.
Inverse association of female hormone replacement therapy with age-related macular degeneration and interactions with ARMS2 polymorphisms.
Edwards DR, Gallins P, Polk M, Ayala-Haedo J, Schwartz SG, Kovach JL, Spencer K, Wang G, Agarwal A, Postel EA, Haines JL, Pericak-Vance M, Scott WK. Edwards DR, et al. Among authors: kovach jl. Invest Ophthalmol Vis Sci. 2010 Apr;51(4):1873-9. doi: 10.1167/iovs.09-4000. Epub 2009 Nov 20. Invest Ophthalmol Vis Sci. 2010. PMID: 19933179 Free PMC article.
Analysis of the indel at the ARMS2 3'UTR in age-related macular degeneration.
Wang G, Spencer KL, Scott WK, Whitehead P, Court BL, Ayala-Haedo J, Mayo P, Schwartz SG, Kovach JL, Gallins P, Polk M, Agarwal A, Postel EA, Haines JL, Pericak-Vance MA. Wang G, et al. Among authors: kovach jl. Hum Genet. 2010 Mar;127(5):595-602. doi: 10.1007/s00439-010-0805-8. Epub 2010 Feb 25. Hum Genet. 2010. PMID: 20182747 Free PMC article.
Analysis of single nucleotide polymorphisms in the NOS2A gene and interaction with smoking in age-related macular degeneration.
Ayala-Haedo JA, Gallins PJ, Whitehead PL, Schwartz SG, Kovach JL, Postel EA, Agarwal A, Wang G, Haines JL, Pericak-Vance MA, Scott WK. Ayala-Haedo JA, et al. Among authors: kovach jl. Ann Hum Genet. 2010 May;74(3):195-201. doi: 10.1111/j.1469-1809.2010.00570.x. Epub 2010 Mar 31. Ann Hum Genet. 2010. PMID: 20374233 Free PMC article.
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, Tan PL, Conley YP, Kanda A, Kopplin L, Li Y, Augustaitis KJ, Karoukis AJ, Scott WK, Agarwal A, Kovach JL, Schwartz SG, Postel EA, Brooks M, Baratz KH, Brown WL; Complications of Age-Related Macular Degeneration Prevention Trial Research Group; Brucker AJ, Orlin A, Brown G, Ho A, Regillo C, Donoso L, Tian L, Kaderli B, Hadley D, Hagstrom SA, Peachey NS, Klein R, Klein BE, Gotoh N, Yamashiro K, Ferris Iii F, Fagerness JA, Reynolds R, Farrer LA, Kim IK, Miller JW, Cortón M, Carracedo A, Sanchez-Salorio M, Pugh EW, Doheny KF, Brion M, Deangelis MM, Weeks DE, Zack DJ, Chew EY, Heckenlively JR, Yoshimura N, Iyengar SK, Francis PJ, Katsanis N, Seddon JM, Haines JL, Gorin MB, Abecasis GR, Swaroop A. Chen W, et al. Among authors: kovach jl. Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7401-6. doi: 10.1073/pnas.0912702107. Epub 2010 Apr 12. Proc Natl Acad Sci U S A. 2010. PMID: 20385819 Free PMC article.
A novel ARMS2 splice variant is identified in human retina.
Wang G, Scott WK, Whitehead P, Court BL, Kovach JL, Schwartz SG, Agarwal A, Dubovy S, Haines JL, Pericak-Vance MA. Wang G, et al. Among authors: kovach jl. Exp Eye Res. 2012 Jan;94(1):187-91. doi: 10.1016/j.exer.2011.11.005. Epub 2011 Nov 22. Exp Eye Res. 2012. PMID: 22138417 Free PMC article. No abstract available.
The ARMS2 A69S variant and bilateral advanced age-related macular degeneration.
Schwartz SG, Agarwal A, Kovach JL, Gallins PJ, Cade W, Postel EA, Wang G, Ayala-Haedo J, Spencer KM, Haines JL, Pericak-Vance MA, Scott WK. Schwartz SG, et al. Among authors: kovach jl. Retina. 2012 Sep;32(8):1486-91. doi: 10.1097/IAE.0b013e318240a540. Retina. 2012. PMID: 22481475 Free PMC article.
67 results