|A reference panel of 64,976 haplotypes for genotype imputation|
S McCarthy, S Das, W Kretzschmar, O Delaneau, AR Wood, A Teumer, ...
Nature genetics 48 (10), 1279, 2016
|Next-generation genotype imputation service and methods|
S Das, L Forer, S Schönherr, C Sidore, AE Locke, A Kwong, SI Vrieze, ...
Nature genetics 48 (10), 1284-1287, 2016
|Retinal repair by transplantation of photoreceptor precursors|
RE MacLaren, RA Pearson, A MacNeil, RH Douglas, TE Salt, M Akimoto, ...
Nature 444 (7116), 203-207, 2006
|Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region|
CCT Ton, H Hirvonen, H Miwa, MM Weil, P Monaghan, T Jordan, ...
Cell 67 (6), 1059-1074, 1991
|Nrl is required for rod photoreceptor development|
AJ Mears, M Kondo, PK Swain, Y Takada, RA Bush, TL Saunders, ...
Nature genetics 29 (4), 447-452, 2001
|A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants|
LG Fritsche, W Igl, JNC Bailey, F Grassmann, S Sengupta, ...
Nature genetics 48 (2), 134-143, 2016
|Seven new loci associated with age-related macular degeneration|
AMD Gene Consortium
Nature genetics 45 (4), 433, 2013
|The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4|
JA Sayer, EA Otto, JF O'Toole, G Nurnberg, MA Kennedy, C Becker, ...
Nature genetics 38 (6), 674-681, 2006
|Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration|
W Chen, D Stambolian, AO Edwards, KE Branham, M Othman, ...
Proceedings of the National Academy of Sciences 107 (16), 7401-7406, 2010
|Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina|
A Swaroop, D Kim, D Forrest
Nature Reviews Neuroscience 11 (8), 563-576, 2010
|A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration|
A Kanda, W Chen, M Othman, KEH Branham, M Brooks, R Khanna, S He, ...
Proceedings of the National Academy of Sciences 104 (41), 16227-16232, 2007
|Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration|
S Zareparsi, KEH Branham, M Li, S Shah, RJ Klein, J Ott, J Hoh, ...
The American Journal of Human Genetics 77 (1), 149-153, 2005
|Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin|
EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak, S Fan, U Muerb, ...
Nature genetics 37 (3), 282-288, 2005
|Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa|
JD Eudy, MD Weston, SF Yao, DM Hoover, HL Rehm, M Ma-Edmonds, ...
Science 280 (5370), 1753-1757, 1998
|CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration|
M Li, P Atmaca-Sonmez, M Othman, KEH Branham, R Khanna, MS Wade, ...
Nature genetics 38 (9), 1049-1054, 2006
|A conserved retina-specific gene encodes a basic motif/leucine zipper domain|
A Swaroop, JZ Xu, H Pawar, A Jackson, C Skolnick, N Agarwal
Proceedings of the National Academy of Sciences 89 (1), 266-270, 1992
|In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse|
B Chang, H Khanna, N Hawes, D Jimeno, S He, C Lillo, SK Parapuram, ...
Human molecular genetics 15 (11), 1847-1857, 2006
|Age-related macular degeneration: genetics and biology coming together|
LG Fritsche, RN Fariss, D Stambolian, GR Abecasis, CA Curcio, ...
Annual review of genomics and human genetics 15, 151-171, 2014
|Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors|
M Akimoto, H Cheng, D Zhu, JA Brzezinski, R Khanna, E Filippova, ...
Proceedings of the National Academy of Sciences 103 (10), 3890-3895, 2006
|Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration|
A Swaroop, EY Chew, CB Rickman, GR Abecasis
Annual review of genomics and human genetics 10, 2009