Articles with public access mandates - Samuel G. JacobsonLearn more
Not available anywhere: 3
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa
S Walia, GA Fishman, SG Jacobson, TS Aleman, RK Koenekoop, ...
Ophthalmology 117 (6), 1190-1198, 2010
Mandates: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …
Leber congenital amaurosis: genotypes and retinal structure phenotypes
SG Jacobson, AV Cideciyan, WC Huang, A Sumaroka, HJ Nam, ...
Retinal Degenerative Diseases: Mechanisms and Experimental Therapy, 169-175, 2016
Mandates: US National Institutes of Health
Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D
ML Stunkel, SE Brodie, AV Cideciyan, WL Pfeifer, EL Kennedy, EM Stone, ...
American journal of ophthalmology 190, 58-68, 2018
Mandates: US National Institutes of Health
Available somewhere: 122
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
H Khanna, EE Davis, CA Murga-Zamalloa, A Estrada-Cuzcano, I Lopez, ...
Nature genetics 41 (6), 739-745, 2009
Mandates: US National Institutes of Health, Howard Hughes Medical Institute, Fonds de …
Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations
S Sakami, T Maeda, G Bereta, K Okano, M Golczak, A Sumaroka, ...
Journal of Biological Chemistry 286 (12), 10551-10567, 2011
Mandates: US National Institutes of Health
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
I Audo, S Kohl, BP Leroy, FL Munier, X Guillonneau, S Mohand-Saïd, ...
The American Journal of Human Genetics 85 (5), 720-729, 2009
Mandates: Swiss National Science Foundation, Research Foundation (Flanders), German …
Vision 1 year after gene therapy for Leber's congenital amaurosis
AV Cideciyan, WW Hauswirth, TS Aleman, S Kaushal, SB Schwartz, ...
New England Journal of Medicine 361 (7), 725-727, 2009
Mandates: US National Institutes of Health
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa
BA Tucker, TE Scheetz, RF Mullins, AP DeLuca, JM Hoffmann, ...
Proceedings of the National Academy of Sciences 108 (34), E569-E576, 2011
Mandates: US National Institutes of Health
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
TA Braun, RF Mullins, AH Wagner, JL Andorf, RM Johnston, BB Bakall, ...
Human molecular genetics 22 (25), 5136-5145, 2013
Mandates: US National Institutes of Health, Howard Hughes Medical Institute
The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders
AN Bramall, AF Wright, SG Jacobson, RR McInnes
Annual review of neuroscience 33 (1), 441-472, 2010
Mandates: Canadian Institutes of Health Research
ABCA4 disease progression and a proposed strategy for gene therapy
AV Cideciyan, M Swider, TS Aleman, Y Tsybovsky, SB Schwartz, ...
Human molecular genetics 18 (5), 931-941, 2009
Mandates: US National Institutes of Health
Progress in treating inherited retinal diseases: early subretinal gene therapy clinical trials and candidates for future initiatives
AV Garafalo, AV Cideciyan, E Héon, R Sheplock, A Pearson, CWY Yu, ...
Progress in retinal and eye research 77, 100827, 2020
Mandates: US National Institutes of Health
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
X Wang, H Wang, V Sun, HF Tuan, V Keser, K Wang, H Ren, I Lopez, ...
Journal of medical genetics 50 (10), 674-688, 2013
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
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