Samuel G. Jacobson
University of Pennsylvania
H-index: 113
North America-United States
Top articles of Samuel G. Jacobson
Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation–Effect of an ALG6 Modifier Variant
International Journal of Molecular Sciences
2024/1/13
Characterization of five potential phenotype-modifying variants in DHDDS K42E patients
Investigative Ophthalmology & Visual Science
2023/6/1
Long durability of foveal cone vision improvement after single injections of sepofarsen confirmed in a second CEP290-LCA eye
Investigative Ophthalmology & Visual Science
2023/6/1
Six-month safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D (LCA1)
Investigative Ophthalmology & Visual Science
2023/6/1
Drug screening in iPSC-derived retinal organoids identifies reserpine to maintain photoreceptor survival through restoration of proteostasis
Investigative Ophthalmology & Visual Science
2023/6/1
Treating autosomal dominant bestrophinopathies and methods for evaluating same
2023/5/4
Treating autosomal recessive bestrophinopathies and methods for evaluating same
2023/4/13
Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects
elife
2023/3/28
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations
Vision research
2023/2/1
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial
Translational Vision Science & Technology
2023/1/3
Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes
American Journal of Ophthalmology Case Reports
2023/12/1
Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations
Investigative Ophthalmology & Visual Science
2022/12/1
Night vision restored in days after decades of congenital blindness
Iscience
2022/10/21
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Proceedings of the National Academy of Sciences
2022/7/5
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
2022/7
Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis
BMC ophthalmology
2022/6/14
Long-term safety and efficacy of sepofarsen in a Ph1b/2 INSIGHT extension trial in CEP290-associated Leber congenital amaurosis (LCA10)
Investigative Ophthalmology & Visual Science
2022/6/1
Long-term follow up of gene therapy for NPHP5-LCA in a canine model shows restoration of photoreceptor function and vision for> 5 years
Investigative Ophthalmology & Visual Science
2022/6/1
Restoration of cone sensitivity to individuals with congenital photoreceptor blindness within the phase 1/2 sepofarsen trial
Ophthalmology science
2022/6/1
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial
Nature medicine
2022/5
