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), 92-95, 2001 | 1548 | 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 | 1200 | 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 | 825 | 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), 270-271, 2000 | 816 | 2000 |
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 | 781 | 2012 |
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 | 673 | 1997 |
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 | 575 | 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 | 531 | 1991 |
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 | 529 | 2013 |
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), 127-131, 2000 | 528 | 2000 |
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), 435-438, 2002 | 428 | 2002 |
Improvement and decline in vision with gene therapy in childhood blindness SG Jacobson, AV Cideciyan, AJ Roman, A Sumaroka, SB Schwartz, ... New England Journal of Medicine 372 (20), 1920-1926, 2015 | 427 | 2015 |
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 | 427 | 2009 |
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), 319-323, 2000 | 422 | 2000 |
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), 257-259, 1998 | 419 | 1998 |
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 | 366 | 2001 |
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), 311-312, 1998 | 344 | 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), 965-970, 1997 | 344 | 1997 |
Psychophysical evidence for rod vulnerability in age-related macular degeneration C Owsley, GR Jackson, AV Cideciyan, Y Huang, SL Fine, AC Ho, ... Investigative ophthalmology & visual science 41 (1), 267-273, 2000 | 336 | 2000 |
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa WA Beltran, AV Cideciyan, AS Lewin, S Iwabe, H Khanna, A Sumaroka, ... Proceedings of the National Academy of Sciences 109 (6), 2132-2137, 2012 | 323 | 2012 |