-
1
-
-
82255162545
-
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. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet 2011;43:1232-6.
-
(2011)
Nat Genet
, vol.43
, pp. 1232-1236
-
-
Raychaudhuri, S.1
Iartchouk, O.2
Chin, K.3
Tan, P.L.4
Tai, A.K.5
Ripke, S.6
Gowrisankar, S.7
Vemuri, S.8
Montgomery, K.9
Yu, Y.10
Reynolds, R.11
Zack, D.J.12
Campochiaro, B.13
Campochiaro, P.14
Katsanis, N.15
Daly, M.J.16
Seddon, J.M.17
-
2
-
-
84865593375
-
Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene
-
van de Ven JP, Boon CJ, Fauser S, Hoefsloot LH, Smailhodzic D, Schoenmaker-Koller F, Klevering J, Klaver CC, den Hollander AI, Hoyng CB. Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene. Arch Ophthalmol 2012;130:1038-47.
-
(2012)
Arch Ophthalmol
, vol.130
, pp. 1038-1047
-
-
van de Ven, J.P.1
Boon, C.J.2
Fauser, S.3
Hoefsloot, L.H.4
Smailhodzic, D.5
Schoenmaker-Koller, F.6
Klevering, J.7
Klaver, C.C.8
den Hollander, A.I.9
Hoyng, C.B.10
-
3
-
-
40749109434
-
Basal laminar drusen caused by compound heterozygous variants in the CFH gene
-
Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI. Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Am J Hum Genet 2008;82:516-23.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 516-523
-
-
Boon, C.J.1
Klevering, B.J.2
Hoyng, C.B.3
Zonneveld-Vrieling, M.N.4
Nabuurs, S.B.5
Blokland, E.6
Cremers, F.P.7
den Hollander, A.I.8
-
4
-
-
11144354339
-
Prevalence of age-related macular degeneration in the United States
-
Friedman DS, O'Colmain BJ, Muñoz B, Tomany SC, McCarty C, de Jong PT, Nemesure B, Mitchell P, Kempen J, Eye Diseases Prevalence Research Group. Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol 2004;122:564-72.
-
(2004)
Arch Ophthalmol
, vol.122
, pp. 564-572
-
-
Friedman, D.S.1
O'Colmain, B.J.2
Muñoz, B.3
Tomany, S.C.4
McCarty, C.5
de Jong, P.T.6
Nemesure, B.7
Mitchell, P.8
Kempen, J.9
-
5
-
-
1442306414
-
Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26
-
Kenealy SJ, Schmidt S, Agarwal A, Postel EA, De La Paz MA, Pericak-Vance MA, Haines JL. Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. Mol Vis 2004;10:57-61.
-
(2004)
Mol Vis
, vol.10
, pp. 57-61
-
-
Kenealy, S.J.1
Schmidt, S.2
Agarwal, A.3
Postel, E.A.4
De La Paz, M.A.5
Pericak-Vance, M.A.6
Haines, J.L.7
-
6
-
-
0041886495
-
Age-related macular degeneration-a genome scan in extended families
-
Majewski J, Schultz DW, Weleber RG, Schain MB, Edwards AO, Matise TC, Acott TS, Ott J, Klein ML. Age-related macular degeneration-a genome scan in extended families. Am J Hum Genet 2003;73:540-50.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 540-550
-
-
Majewski, J.1
Schultz, D.W.2
Weleber, R.G.3
Schain, M.B.4
Edwards, A.O.5
Matise, T.C.6
Acott, T.S.7
Ott, J.8
Klein, M.L.9
-
7
-
-
0032468842
-
Clinical features in a large family and linkage to chromosome 1q
-
Klein ML, Schultz DW, Edwards A, Matise TC, Rust K, Berselli CB, Trzupek K, Weleber RG, Ott J, Wirtz MK, Acott TS, Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol 1998;116:1082-8.
-
(1998)
Arch Ophthalmol
, vol.116
, pp. 1082-1088
-
-
Klein, M.L.1
Schultz, D.W.2
Edwards, A.3
Matise, T.C.4
Rust, K.5
Berselli, C.B.6
Trzupek, K.7
Weleber, R.G.8
Ott, J.9
Wirtz, M.K.10
Acott, T.S.11
-
8
-
-
0348013124
-
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family
-
Schultz DW, Klein ML, Humpert AJ, Luzier CW, Persun V, Schain M, Mahan A, Runckel C, Cassera M, Vittal V, Doyle TM, Martin TM, Weleber RG, Francis PJ, Acott TS. Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. Hum Mol Genet 2003;12:3315-23.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3315-3323
-
-
Schultz, D.W.1
Klein, M.L.2
Humpert, A.J.3
Luzier, C.W.4
Persun, V.5
Schain, M.6
Mahan, A.7
Runckel, C.8
Cassera, M.9
Vittal, V.10
Doyle, T.M.11
Martin, T.M.12
Weleber, R.G.13
Francis, P.J.14
Acott, T.S.15
-
9
-
-
17244379811
-
Complement factor H polymorphism and age-related macular degeneration
-
Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science 2005;308:421-4.
-
(2005)
Science
, vol.308
, pp. 421-424
-
-
Edwards, A.O.1
Ritter, R.2
Abel, K.J.3
Manning, A.4
Panhuysen, C.5
Farrer, L.A.6
-
10
-
-
20244380171
-
Complement factor H polymorphism in age-related macular degeneration
-
Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J. Complement factor H polymorphism in age-related macular degeneration. Science 2005;308:385-9.
-
(2005)
Science
, vol.308
, pp. 385-389
-
-
Klein, R.J.1
Zeiss, C.2
Chew, E.Y.3
Tsai, J.Y.4
Sackler, R.S.5
Haynes, C.6
Henning, A.K.7
SanGiovanni, J.P.8
Mane, S.M.9
Mayne, S.T.10
Bracken, M.B.11
Ferris, F.L.12
Ott, J.13
Barnstable, C.14
Hoh, J.15
-
11
-
-
20244388812
-
Complement factor H variant increases the risk of age-related macular degeneration
-
Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, Schnetz-Boutaud N, Agarwal A, Postel EA, Pericak-Vance MA. Complement factor H variant increases the risk of age-related macular degeneration. Science 2005;308:419-21.
-
(2005)
Science
, vol.308
, pp. 419-421
-
-
Haines, J.L.1
Hauser, M.A.2
Schmidt, S.3
Scott, W.K.4
Olson, L.M.5
Gallins, P.6
Spencer, K.L.7
Kwan, S.Y.8
Noureddine, M.9
Gilbert, J.R.10
Schnetz-Boutaud, N.11
Agarwal, A.12
Postel, E.A.13
Pericak-Vance, M.A.14
-
12
-
-
34547764305
-
Complement C3 variant and the risk of age-related macular degeneration
-
Yates JR, Sepp T, Matharu BK, Khan JC, Thurlby DA, Shahid H, Clayton DG, Hayward C, Morgan J, Wright AF, Armbrecht AM, Dhillon B, Deary IJ, Redmond E, Bird AC, Moore AT, Genetic Factors in AMD Study Group. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med 2007;357:553-61.
-
(2007)
N Engl J Med
, vol.357
, pp. 553-561
-
-
Yates, J.R.1
Sepp, T.2
Matharu, B.K.3
Khan, J.C.4
Thurlby, D.A.5
Shahid, H.6
Clayton, D.G.7
Hayward, C.8
Morgan, J.9
Wright, A.F.10
Armbrecht, A.M.11
Dhillon, B.12
Deary, I.J.13
Redmond, E.14
Bird, A.C.15
Moore, A.T.16
-
13
-
-
57649215855
-
Variation near complement factor I is associated with risk of advanced AMD
-
Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet 2009;17:100-4.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 100-104
-
-
Fagerness, J.A.1
Maller, J.B.2
Neale, B.M.3
Reynolds, R.C.4
Daly, M.J.5
Seddon, J.M.6
-
14
-
-
34748819371
-
Variation in complement factor 3 is associated with risk of age-related macular degeneration
-
Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, Seddon JM. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet 2007;39:1200-1.
-
(2007)
Nat Genet
, vol.39
, pp. 1200-1201
-
-
Maller, J.B.1
Fagerness, J.A.2
Reynolds, R.C.3
Neale, B.M.4
Daly, M.J.5
Seddon, J.M.6
-
15
-
-
33645419787
-
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration
-
Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, Gehrs K, Cramer K, Neel J, Bergeron J, Barile GR, Smith RT, AMD Genetics Clinical Study Group, Hageman GS, Dean M, Allikmets R. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 2006;38:458-62.
-
(2006)
Nat Genet
, vol.38
, pp. 458-462
-
-
Gold, B.1
Merriam, J.E.2
Zernant, J.3
Hancox, L.S.4
Taiber, A.J.5
Gehrs, K.6
Cramer, K.7
Neel, J.8
Bergeron, J.9
Barile, G.R.10
Smith, R.T.11
Hageman, G.S.12
Dean, M.13
Allikmets, R.14
-
16
-
-
34548406001
-
Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration
-
Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, Gallins P, Agarwal A, Postel EA, Pericak-Vance MA, Haines JL. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet 2007;16:1986-92.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1986-1992
-
-
Spencer, K.L.1
Hauser, M.A.2
Olson, L.M.3
Schmidt, S.4
Scott, W.K.5
Gallins, P.6
Agarwal, A.7
Postel, E.A.8
Pericak-Vance, M.A.9
Haines, J.L.10
-
17
-
-
23944465880
-
Susceptibility genes for age-related maculopathy on chromosome 10q26
-
Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet 2005;77:389-407.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 389-407
-
-
Jakobsdottir, J.1
Conley, Y.P.2
Weeks, D.E.3
Mah, T.S.4
Ferrell, R.E.5
Gorin, M.B.6
-
18
-
-
36049042661
-
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration
-
Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna R, He S, Lyons R, Abecasis GR, Swaroop A. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci USA 2007;104:16227-32.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 16227-16232
-
-
Kanda, A.1
Chen, W.2
Othman, M.3
Branham, K.E.4
Brooks, M.5
Khanna, R.6
He, S.7
Lyons, R.8
Abecasis, G.R.9
Swaroop, A.10
-
19
-
-
80052196120
-
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. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet 2011;20:3699-709.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3699-3709
-
-
Yu, Y.1
Bhangale, T.R.2
Fagerness, J.3
Ripke, S.4
Thorleifsson, G.5
Tan, P.L.6
Souied, E.H.7
Richardson, A.J.8
Merriam, J.E.9
Buitendijk, G.H.10
Reynolds, R.11
Raychaudhuri, S.12
Chin, K.A.13
Sobrin, L.14
Evangelou, E.15
Lee, P.H.16
Lee, A.Y.17
Leveziel, N.18
Zack, D.J.19
Campochiaro, B.20
Campochiaro, P.21
Smith, R.T.22
Barile, G.R.23
Guymer, R.H.24
Hogg, R.25
Chakravarthy, U.26
Robman, L.D.27
Gustafsson, O.28
Sigurdsson, H.29
Ortmann, W.30
Behrens, T.W.31
Stefansson, K.32
Uitterlinden, A.G.33
van Duijn, C.M.34
Vingerling, J.R.35
Klaver, C.C.36
Allikmets, R.37
Brantley Jr, M.A.38
Baird, P.N.39
Katsanis, N.40
Thorsteinsdottir, U.41
Ioannidis, J.P.42
Daly, M.J.43
Graham, R.R.44
Seddon, J.M.45
more..
-
20
-
-
0032014838
-
The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration
-
Souied EH, Benlian P, Amouyel P, Feingold J, Lagarde JP, Munnich A, Kaplan J, Coscas G, Soubrane G. The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol 1998;125:353-9.
-
(1998)
Am J Ophthalmol
, vol.125
, pp. 353-359
-
-
Souied, E.H.1
Benlian, P.2
Amouyel, P.3
Feingold, J.4
Lagarde, J.P.5
Munnich, A.6
Kaplan, J.7
Coscas, G.8
Soubrane, G.9
-
21
-
-
0032231956
-
Genetic association of apolipoprotein E with age-related macular degeneration
-
Klaver CC, Kliffen M, van Duijn CM, Hofman A, Cruts M, Grobbee DE, van Broeckhoven C, de Jong PT. Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet 1998;63:200-6.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 200-206
-
-
Klaver, C.C.1
Kliffen, M.2
van Duijn, C.M.3
Hofman, A.4
Cruts, M.5
Grobbee, D.E.6
van Broeckhoven, C.7
de Jong, P.T.8
-
22
-
-
77952147434
-
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. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci USA 2010;107:7401-6.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 7401-7406
-
-
Chen, W.1
Stambolian, D.2
Edwards, A.O.3
Branham, K.E.4
Othman, M.5
Jakobsdottir, J.6
Tosakulwong, N.7
Pericak-Vance, M.A.8
Campochiaro, P.A.9
Klein, M.L.10
Tan, P.L.11
Conley, Y.P.12
Kanda, A.13
Kopplin, L.14
Li, Y.15
Augustaitis, K.J.16
Karoukis, A.J.17
Scott, W.K.18
Agarwal, A.19
Kovach, J.L.20
Schwartz, S.G.21
Postel, E.A.22
Brooks, M.23
Baratz, K.H.24
Brown, W.L.25
Brucker, A.J.26
Orlin, A.27
Brown, G.28
Ho, A.29
Regillo, C.30
Donoso, L.31
Tian, L.32
Kaderli, B.33
Hadley, D.34
Hagstrom, S.A.35
Peachey, N.S.36
Klein, R.37
Klein, B.E.38
Gotoh, N.39
Yamashiro, K.40
Ferris Iii, F.41
Fagerness, J.A.42
Reynolds, R.43
Farrer, L.A.44
Kim, I.K.45
Miller, J.W.46
Cortón, M.47
Carracedo, A.48
Sanchez-Salorio, M.49
Pugh, E.W.50
Doheny, K.F.51
Brion, M.52
Deangelis, M.M.53
Weeks, D.E.54
Zack, D.J.55
Chew, E.Y.56
Heckenlively, J.R.57
Yoshimura, N.58
Iyengar, S.K.59
Francis, P.J.60
Katsanis, N.61
Seddon, J.M.62
Haines, J.L.63
Gorin, M.B.64
Abecasis, G.R.65
Swaroop, A.66
more..
-
23
-
-
84875706378
-
Seven new loci associated with age-related macular degeneration
-
9e1-9e2
-
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, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Léveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, Abecasis GR, AMD Gene Consortium. Seven new loci associated with age-related macular degeneration. Nat Genet 2013;45:433-9, 9e1-2.
-
(2013)
Nat Genet
, vol.45
, pp. 433-439
-
-
Fritsche, L.G.1
Chen, W.2
Schu, M.3
Yaspan, B.L.4
Yu, Y.5
Thorleifsson, G.6
Zack, D.J.7
Arakawa, S.8
Cipriani, V.9
Ripke, S.10
Igo Jr, R.P.11
Buitendijk, G.H.12
Sim, X.13
Weeks, D.E.14
Guymer, R.H.15
Merriam, J.E.16
Francis, P.J.17
Hannum, G.18
Agarwal, A.19
Armbrecht, A.M.20
Audo, I.21
Aung, T.22
Barile, G.R.23
Benchaboune, M.24
Bird, A.C.25
Bishop, P.N.26
Branham, K.E.27
Brooks, M.28
Brucker, A.J.29
Cade, W.H.30
Cain, M.S.31
Campochiaro, P.A.32
Chan, C.C.33
Cheng, C.Y.34
Chew, E.Y.35
Chin, K.A.36
Chowers, I.37
Clayton, D.G.38
Cojocaru, R.39
Conley, Y.P.40
Cornes, B.K.41
Daly, M.J.42
Dhillon, B.43
Edwards, A.O.44
Evangelou, E.45
Fagerness, J.46
Ferreyra, H.A.47
Friedman, J.S.48
Geirsdottir, A.49
George, R.J.50
Gieger, C.51
Gupta, N.52
Hagstrom, S.A.53
Harding, S.P.54
Haritoglou, C.55
Heckenlively, J.R.56
Holz, F.G.57
Hughes, G.58
Ioannidis, J.P.59
Ishibashi, T.60
Joseph, P.61
Jun, G.62
Kamatani, Y.63
Katsanis, N.64
Keilhauer, C.N.65
Khan, J.C.66
Kim, I.K.67
Kiyohara, Y.68
Klein, B.E.69
Klein, R.70
Kovach, J.L.71
Kozak, I.72
Lee, C.J.73
Lee, K.E.74
Lichtner, P.75
Lotery, A.J.76
Meitinger, T.77
Mitchell, P.78
Mohand-Saïd, S.79
Moore, A.T.80
Morgan, D.J.81
Morrison, M.A.82
Myers, C.E.83
Naj, A.C.84
Nakamura, Y.85
Okada, Y.86
Orlin, A.87
Ortube, M.C.88
Othman, M.I.89
Pappas, C.90
Park, K.H.91
Pauer, G.J.92
Peachey, N.S.93
Poch, O.94
Priya, R.R.95
Reynolds, R.96
Richardson, A.J.97
Ripp, R.98
Rudolph, G.99
Ryu, E.100
Sahel, J.A.101
Schaumberg, D.A.102
Scholl, H.P.103
Schwartz, S.G.104
Scott, W.K.105
Shahid, H.106
Sigurdsson, H.107
Silvestri, G.108
Sivakumaran, T.A.109
Smith, R.T.110
Sobrin, L.111
Souied, E.H.112
Stambolian, D.E.113
Stefansson, H.114
Sturgill-Short, G.M.115
Takahashi, A.116
Tosakulwong, N.117
Truitt, B.J.118
Tsironi, E.E.119
Uitterlinden, A.G.120
van Duijn, C.M.121
Vijaya, L.122
Vingerling, J.R.123
Vithana, E.N.124
Webster, A.R.125
Wichmann, H.E.126
Winkler, T.W.127
Wong, T.Y.128
Wright, A.F.129
Zelenika, D.130
Zhang, M.131
Zhao, L.132
Zhang, K.133
Klein, M.L.134
Hageman, G.S.135
Lathrop, G.M.136
Stefansson, K.137
Allikmets, R.138
Baird, P.N.139
Gorin, M.B.140
Wang, J.J.141
Klaver, C.C.142
Seddon, J.M.143
Pericak-Vance, M.A.144
Iyengar, S.K.145
Yates, J.R.146
Swaroop, A.147
Weber, B.H.148
Kubo, M.149
Deangelis, M.M.150
Léveillard, T.151
Thorsteinsdottir, U.152
Haines, J.L.153
Farrer, L.A.154
Heid, I.M.155
Abecasis, G.R.156
more..
-
24
-
-
84870723784
-
Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management
-
Priya RR, Chew EY, Swaroop A. Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management. Ophthalmology 2012;119:2526-36.
-
(2012)
Ophthalmology
, vol.119
, pp. 2526-2536
-
-
Priya, R.R.1
Chew, E.Y.2
Swaroop, A.3
-
25
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM. Finding the missing heritability of complex diseases. Nature 2009;461:747-53.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
McCarthy, M.I.7
Ramos, E.M.8
Cardon, L.R.9
Chakravarti, A.10
Cho, J.H.11
Guttmacher, A.E.12
Kong, A.13
Kruglyak, L.14
Mardis, E.15
Rotimi, C.N.16
Slatkin, M.17
Valle, D.18
Whittemore, A.S.19
Boehnke, M.20
Clark, A.G.21
Eichler, E.E.22
Gibson, G.23
Haines, J.L.24
Mackay, T.F.25
McCarroll, S.A.26
Visscher, P.M.27
more..
-
26
-
-
84879692071
-
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. A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nat Genet 2013;45:813-17.
-
(2013)
Nat Genet
, vol.45
, pp. 813-817
-
-
van de Ven, J.P.1
Nilsson, S.C.2
Tan, P.L.3
Buitendijk, G.H.4
Ristau, T.5
Mohlin, F.C.6
Nabuurs, S.B.7
Schoenmaker-Koller, F.E.8
Smailhodzic, D.9
Campochiaro, P.A.10
Zack, D.J.11
Duvvari, M.R.12
Bakker, B.13
Paun, C.C.14
Boon, C.J.15
Uitterlinden, A.G.16
Liakopoulos, S.17
Klevering, B.J.18
Fauser, S.19
Daha, M.R.20
Katsanis, N.21
Klaver, C.C.22
Blom, A.M.23
Hoyng, C.B.24
den Hollander, A.I.25
more..
-
27
-
-
84887080613
-
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. Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat Genet 2013;45:1366-70.
-
(2013)
Nat Genet
, vol.45
, pp. 1366-1370
-
-
Seddon, J.M.1
Yu, Y.2
Miller, E.C.3
Reynolds, R.4
Tan, P.L.5
Gowrisankar, S.6
Goldstein, J.I.7
Triebwasser, M.8
Anderson, H.E.9
Zerbib, J.10
Kavanagh, D.11
Souied, E.12
Katsanis, N.13
Daly, M.J.14
Atkinson, J.P.15
Raychaudhuri, S.16
-
28
-
-
84887043851
-
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration
-
Helgason H, Sulem P, Duvvari MR, Luo H, Thorleifsson G, Stefansson H, Jonsdottir I, Masson G, Gudbjartsson DF, Walters GB, Magnusson OT, Kong A, Rafnar T, Kiemeney LA, Schoenmaker-Koller FE, Zhao L, Boon CJ, Song Y, Fauser S, Pei M, Ristau T, Patel S, Liakopoulos S, van de Ven JP, Hoyng CB, Ferreyra H, Duan Y, Bernstein PS, Geirsdottir A, Helgadottir G, Stefansson E, den Hollander AI, Zhang K, Jonasson F, Sigurdsson H, Thorsteinsdottir U, Stefansson K. A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration. Nat Genet 2013;45:1371-4.
-
(2013)
Nat Genet
, vol.45
, pp. 1371-1374
-
-
Helgason, H.1
Sulem, P.2
Duvvari, M.R.3
Luo, H.4
Thorleifsson, G.5
Stefansson, H.6
Jonsdottir, I.7
Masson, G.8
Gudbjartsson, D.F.9
Walters, G.B.10
Magnusson, O.T.11
Kong, A.12
Rafnar, T.13
Kiemeney, L.A.14
Schoenmaker-Koller, F.E.15
Zhao, L.16
Boon, C.J.17
Song, Y.18
Fauser, S.19
Pei, M.20
Ristau, T.21
Patel, S.22
Liakopoulos, S.23
van de Ven, J.P.24
Hoyng, C.B.25
Ferreyra, H.26
Duan, Y.27
Bernstein, P.S.28
Geirsdottir, A.29
Helgadottir, G.30
Stefansson, E.31
den Hollander, A.I.32
Zhang, K.33
Jonasson, F.34
Sigurdsson, H.35
Thorsteinsdottir, U.36
Stefansson, K.37
more..
-
29
-
-
84911391197
-
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
-
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A. Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Hum Mol Genet 2014;23:5827-37.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 5827-5837
-
-
Ratnapriya, R.1
Zhan, X.2
Fariss, R.N.3
Branham, K.E.4
Zipprer, D.5
Chakarova, C.F.6
Sergeev, Y.V.7
Campos, M.M.8
Othman, M.9
Friedman, J.S.10
Maminishkis, A.11
Waseem, N.H.12
Brooks, M.13
Rajasimha, H.K.14
Edwards, A.O.15
Lotery, A.16
Klein, B.E.17
Truitt, B.J.18
Li, B.19
Schaumberg, D.A.20
Morgan, D.J.21
Morrison, M.A.22
Souied, E.23
Tsironi, E.E.24
Grassmann, F.25
Fishman, G.A.26
Silvestri, G.27
Scholl, H.P.28
Kim, I.K.29
Ramke, J.30
Tuo, J.31
Merriam, J.E.32
Merriam, J.C.33
Park, K.H.34
Olson, L.M.35
Farrer, L.A.36
Johnson, M.P.37
Peachey, N.S.38
Lathrop, M.39
Baron, R.V.40
Igo R.P, Jr.41
Klein, R.42
Hagstrom, S.A.43
Kamatani, Y.44
Martin, T.M.45
Jiang, Y.46
Conley, Y.47
Sahel, J.A.48
Zack, D.J.49
Chan, C.C.50
Pericak-Vance, M.A.51
Jacobson, S.G.52
Gorin, M.B.53
Klein, M.L.54
Allikmets, R.55
Iyengar, S.K.56
Weber, B.H.57
Haines, J.L.58
Léveillard, T.59
Deangelis, M.M.60
Stambolian, D.61
Weeks, D.E.62
Bhattacharya, S.S.63
Chew, E.Y.64
Heckenlively, J.R.65
Abecasis, G.R.66
Swaroop, A.67
more..
-
30
-
-
84904658762
-
Rare complement factor H variant associated with age-related macular degeneration in the Amish
-
Hoffman JD, Cooke Bailey JN, D'Aoust L, Cade W, Ayala-Haedo J, Fuzzell D, Laux R, Adams LD, Reinhart-Mercer L, Caywood L, Whitehead-Gay P, Agarwal A, Wang G, Scott WK, Pericak-Vance MA, Haines JL. Rare complement factor H variant associated with age-related macular degeneration in the Amish. Invest Ophthalmol Vis Sci 2014;55:4455-60.
-
(2014)
Invest Ophthalmol Vis Sci
, vol.55
, pp. 4455-4460
-
-
Hoffman, J.D.1
Cooke Bailey, J.N.2
D'Aoust, L.3
Cade, W.4
Ayala-Haedo, J.5
Fuzzell, D.6
Laux, R.7
Adams, L.D.8
Reinhart-Mercer, L.9
Caywood, L.10
Whitehead-Gay, P.11
Agarwal, A.12
Wang, G.13
Scott, W.K.14
Pericak-Vance, M.A.15
Haines, J.L.16
-
31
-
-
84964316011
-
Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration
-
Yu Y, Triebwasser MP, Wong EK, Schramm EC, Thomas B, Reynolds R, Mardis ER, Atkinson JP, Daly M, Raychaudhuri S, Kavanagh D, Seddon JM. Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. Hum Mol Genet 2014;23:5283-93.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 5283-5293
-
-
Yu, Y.1
Triebwasser, M.P.2
Wong, E.K.3
Schramm, E.C.4
Thomas, B.5
Reynolds, R.6
Mardis, E.R.7
Atkinson, J.P.8
Daly, M.9
Raychaudhuri, S.10
Kavanagh, D.11
Seddon, J.M.12
-
32
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25:1754-60.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
33
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010;20:1297-303.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
DePristo, M.A.11
-
34
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
35
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-81.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
36
-
-
77956534324
-
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38:e164.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
37
-
-
84881613239
-
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations
-
Liu X, Jian X, Boerwinkle E. dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat 2013;34: E2393-402.
-
(2013)
Hum Mutat
, vol.34
, pp. E2393-E2402
-
-
Liu, X.1
Jian, X.2
Boerwinkle, E.3
-
38
-
-
42149139456
-
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
-
Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE, Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med 2008;10:294-300.
-
(2008)
Genet Med
, vol.10
, pp. 294-300
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
Das, S.4
Grody, W.W.5
Hegde, M.R.6
Lyon, E.7
Ward, B.E.8
-
39
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984;36:460-5.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
40
-
-
84902276365
-
Risk factors for exudative age-related macular degeneration in a large French case-control study
-
Zerbib J, Delcourt C, Puche N, Querques G, Cohen SY, Sahel J, Korobelnik JF, Le Goff M, Souied EH. Risk factors for exudative age-related macular degeneration in a large French case-control study. Graefes Arch Clin Exp Ophthalmol 2014;252:899-907.
-
(2014)
Graefes Arch Clin Exp Ophthalmol
, vol.252
, pp. 899-907
-
-
Zerbib, J.1
Delcourt, C.2
Puche, N.3
Querques, G.4
Cohen, S.Y.5
Sahel, J.6
Korobelnik, J.F.7
Le Goff, M.8
Souied, E.H.9
-
41
-
-
84865808440
-
Association of ARMS2 genotype with bilateral involvement of exudative age-related macular degeneration
-
Tamura H, Tsujikawa A, Yamashiro K, Akagi-Kurashige Y, Nakata I, Nakanishi H, Hayashi H, Ooto S, Otani A, Yoshimura N. Association of ARMS2 genotype with bilateral involvement of exudative age-related macular degeneration. Am J Ophthalmol 2012;154:542-8 e1.
-
(2012)
Am J Ophthalmol
, vol.154
, pp. 542-548
-
-
Tamura, H.1
Tsujikawa, A.2
Yamashiro, K.3
Akagi-Kurashige, Y.4
Nakata, I.5
Nakanishi, H.6
Hayashi, H.7
Ooto, S.8
Otani, A.9
Yoshimura, N.10
-
42
-
-
0033525169
-
A perfect message: RNA surveillance and nonsensemediated decay
-
Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsensemediated decay. Cell 1999;96:307-10.
-
(1999)
Cell
, vol.96
, pp. 307-310
-
-
Hentze, M.W.1
Kulozik, A.E.2
-
43
-
-
24644512332
-
HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective
-
Schultz DW, Weleber RG, Lawrence G, Barral S, Majewski J, Acott TS, Klein ML. HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective. Ophthalmic Genet 2005;26:101-5.
-
(2005)
Ophthalmic Genet
, vol.26
, pp. 101-105
-
-
Schultz, D.W.1
Weleber, R.G.2
Lawrence, G.3
Barral, S.4
Majewski, J.5
Acott, T.S.6
Klein, M.L.7
-
44
-
-
34047195173
-
Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)
-
Fisher SA, Rivera A, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Rudolph G, Weber BH. Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). Hum Mutat 2007;28:406-13.
-
(2007)
Hum Mutat
, vol.28
, pp. 406-413
-
-
Fisher, S.A.1
Rivera, A.2
Fritsche, L.G.3
Keilhauer, C.N.4
Lichtner, P.5
Meitinger, T.6
Rudolph, G.7
Weber, B.H.8
-
45
-
-
79961235437
-
Structural basis for complement factor I control and its disease-associated sequence polymorphisms
-
Roversi P, Johnson S, Caesar JJ, McLean F, Leath KJ, Tsiftsoglou SA, Morgan BP, Harris CL, Sim RB, Lea SM. Structural basis for complement factor I control and its disease-associated sequence polymorphisms. Proc Natl Acad Sci USA 2011;108:12839-44.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 12839-12844
-
-
Roversi, P.1
Johnson, S.2
Caesar, J.J.3
McLean, F.4
Leath, K.J.5
Tsiftsoglou, S.A.6
Morgan, B.P.7
Harris, C.L.8
Sim, R.B.9
Lea, S.M.10
|