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Page 1
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, Raychaudhuri S. Seddon JM, et al. Among authors: katsanis n. Nat Genet. 2013 Nov;45(11):1366-70. doi: 10.1038/ng.2741. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036952 Free PMC article.
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Yu Y, Bhangale TR, Fagerness J, Ripke S, Thorleifsson G, Tan PL, Souied EH, Richardson AJ, Merriam JE, Buitendijk GH, Reynolds R, Raychaudhuri S, Chin KA, Sobrin L, Evangelou E, Lee PH, Lee AY, Leveziel N, Zack DJ, Campochiaro B, Campochiaro P, Smith RT, Barile GR, Guymer RH, Hogg R, Chakravarthy U, Robman LD, Gustafsson O, Sigurdsson H, Ortmann W, Behrens TW, Stefansson K, Uitterlinden AG, van Duijn CM, Vingerling JR, Klaver CC, Allikmets R, Brantley MA Jr, Baird PN, Katsanis N, Thorsteinsdottir U, Ioannidis JP, Daly MJ, Graham RR, Seddon JM. Yu Y, et al. Among authors: katsanis n. Hum Mol Genet. 2011 Sep 15;20(18):3699-709. doi: 10.1093/hmg/ddr270. Epub 2011 Jun 10. Hum Mol Genet. 2011. PMID: 21665990 Free PMC article.
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
Raychaudhuri S, Iartchouk O, Chin K, Tan PL, Tai AK, Ripke S, Gowrisankar S, Vemuri S, Montgomery K, Yu Y, Reynolds R, Zack DJ, Campochiaro B, Campochiaro P, Katsanis N, Daly MJ, Seddon JM. Raychaudhuri S, et al. Among authors: katsanis n. Nat Genet. 2011 Oct 23;43(12):1232-6. doi: 10.1038/ng.976. Nat Genet. 2011. PMID: 22019782 Free PMC article.
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
Sobrin L, Ripke S, Yu Y, Fagerness J, Bhangale TR, Tan PL, Souied EH, Buitendijk GH, Merriam JE, Richardson AJ, Raychaudhuri S, Reynolds R, Chin KA, Lee AY, Leveziel N, Zack DJ, Campochiaro P, Smith RT, Barile GR, Hogg RE, Chakravarthy U, Behrens TW, Uitterlinden AG, van Duijn CM, Vingerling JR, Brantley MA Jr, Baird PN, Klaver CC, Allikmets R, Katsanis N, Graham RR, Ioannidis JP, Daly MJ, Seddon JM. Sobrin L, et al. Among authors: katsanis n. Ophthalmology. 2012 Sep;119(9):1874-85. doi: 10.1016/j.ophtha.2012.03.014. Epub 2012 Jun 15. Ophthalmology. 2012. PMID: 22705344 Free PMC article.
Seven new loci associated with age-related macular degeneration.
Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP Jr, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, N Keilhauer C, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G,… See abstract for full author list ➔ Fritsche LG, et al. Among authors: katsanis n, n keilhauer c. Nat Genet. 2013 Apr;45(4):433-9, 439e1-2. doi: 10.1038/ng.2578. Epub 2013 Mar 3. Nat Genet. 2013. PMID: 23455636 Free PMC article.
A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
van de Ven JP, Nilsson SC, Tan PL, Buitendijk GH, Ristau T, Mohlin FC, Nabuurs SB, Schoenmaker-Koller FE, Smailhodzic D, Campochiaro PA, Zack DJ, Duvvari MR, Bakker B, Paun CC, Boon CJ, Uitterlinden AG, Liakopoulos S, Klevering BJ, Fauser S, Daha MR, Katsanis N, Klaver CC, Blom AM, Hoyng CB, den Hollander AI. van de Ven JP, et al. Among authors: katsanis n. Nat Genet. 2013 Jul;45(7):813-7. doi: 10.1038/ng.2640. Epub 2013 May 19. Nat Genet. 2013. PMID: 23685748
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: katsanis n. 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.
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: katsanis n. 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.
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
Neale BM, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, Tan PL, Oh EC, Merriam JE, Souied E, Bernstein PS, Li B, Frederick JM, Zhang K, Brantley MA Jr, Lee AY, Zack DJ, Campochiaro B, Campochiaro P, Ripke S, Smith RT, Barile GR, Katsanis N, Allikmets R, Daly MJ, Seddon JM. Neale BM, et al. Among authors: katsanis n. Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7395-400. doi: 10.1073/pnas.0912019107. Epub 2010 Apr 12. Proc Natl Acad Sci U S A. 2010. PMID: 20385826 Free PMC article.
308 results