|Gene therapy restores vision in a canine model of childhood blindness|
GM Acland, GD Aguirre, J Ray, Q Zhang, TS Aleman, AV Cideciyan, ...
Nature genetics 28 (1), 92, 2001
|Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial|
WW Hauswirth, TS Aleman, S Kaushal, AV Cideciyan, SB Schwartz, ...
Human gene therapy 19 (10), 979-990, 2008
|Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics|
AV Cideciyan, TS Aleman, SL Boye, SB Schwartz, S Kaushal, AJ Roman, ...
Proceedings of the National Academy of Sciences 105 (39), 15112-15117, 2008
|Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa|
A Gal, Y Li, DA Thompson, J Weir, U Orth, SG Jacobson, ...
Nature genetics 26 (3), 270, 2000
|Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor|
CL Freund, CY Gregory-Evans, T Furukawa, M Papaioannou, J Looser, ...
Cell 91 (4), 543-553, 1997
|Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa|
CH Sung, BG Schneider, N Agarwal, DS Papermaster, J Nathans
Proceedings of the National Academy of Sciences 88 (19), 8840-8844, 1991
|Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years|
SG Jacobson, AV Cideciyan, R Ratnakaram, E Heon, SB Schwartz, ...
Archives of ophthalmology 130 (1), 9-24, 2012
|Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness|
GM Acland, GD Aguirre, J Bennett, TS Aleman, AV Cideciyan, J Bennicelli, ...
Molecular Therapy 12 (6), 1072-1082, 2005
|Rhodopsin mutations in autosomal dominant retinitis pigmentosa.|
CH Sung, CM Davenport, JC Hennessey, IH Maumenee, SG Jacobson, ...
Proceedings of the National Academy of Sciences 88 (15), 6481-6485, 1991
|Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate|
NB Haider, SG Jacobson, AV Cideciyan, R Swiderski, LM Streb, C Searby, ...
Nature genetics 24 (2), 127, 2000
|Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year|
AV Cideciyan, WW Hauswirth, TS Aleman, S Kaushal, SB Schwartz, ...
Human gene therapy 20 (9), 999-1004, 2009
|Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome|
K Mykytyn, DY Nishimura, CC Searby, M Shastri, H Yen, JS Beck, T Braun, ...
Nature genetics 31 (4), 435, 2002
|Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement|
AV Cideciyan, SG Jacobson, WA Beltran, A Sumaroka, M Swider, S Iwabe, ...
Proceedings of the National Academy of Sciences 110 (6), E517-E525, 2013
|Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel|
S Kohl, T Marx, I Giddings, H Jägle, SG Jacobson, E Apfelstedt-Sylla, ...
Nature genetics 19 (3), 257, 1998
|Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness|
NT Bech-Hansen, MJ Naylor, TA Maybaum, RL Sparkes, B Koop, ...
Nature genetics 26 (3), 319, 2000
|De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis|
CL Freund, QL Wang, S Chen, BL Muskat, CD Wiles, VC Sheffield, ...
Nature genetics 18 (4), 311, 1998
|Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa|
RM Petters, CA Alexander, KD Wells, EB Collins, JR Sommer, ...
Nature biotechnology 15 (10), 965, 1997
|Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina|
J Bennett, AM Maguire, AV Cideciyan, M Schnell, E Glover, V Anand, ...
Proceedings of the National Academy of Sciences 96 (17), 9920-9925, 1999
|Identification of the gene that, when mutated, causes the human obesity syndrome BBS4|
K Mykytyn, T Braun, R Carmi, NB Haider, CC Searby, M Shastri, G Beck, ...
Nature genetics 28 (2), 188, 2001
|CNGA3 mutations in hereditary cone photoreceptor disorders|
B Wissinger, D Gamer, H Jägle, R Giorda, T Marx, S Mayer, S Tippmann, ...
The American Journal of Human Genetics 69 (4), 722-737, 2001