Samuel G. Jacobson

Penn Presbyterian Medical Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

109h-index36.7kcitations524works1.72yr avg
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Research Topics

Retinal Development and Disorders(389), Retinal Diseases and Treatments(212), Photoreceptor and optogenetics research(101), Glaucoma and retinal disorders(43), RNA regulation and disease(31)

Publications524 total

Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations
iScience·2024· 1 citedOpen Access
Abstract TP179: Reversible Cerebral Vasoconstriction Syndrome (RCVS): A Retrospective Analysis of 79 Cases
Stroke·2024
Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation–Effect of an ALG6 Modifier Variant
International Journal of Molecular Sciences·2024· 4 citedOpen Access
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· 14 citedOpen Access
Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects
eLife·2023· 31 citedOpen Access
Author response: Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects
2023Open Access
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial
Translational Vision Science & Technology·2023· 3 citedOpen Access
Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by <i>BEST1</i> Mutations
Investigative Ophthalmology & Visual Science·2022· 2 citedOpen Access
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations
Vision Research·2022· 7 citedOpen Access
Night vision restored in days after decades of congenital blindness
iScience·2022· 34 citedOpen Access
Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects
2022· 2 citedOpen Access
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacy
Proceedings of the National Academy of Sciences·2022· 12 citedOpen Access
Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis
BMC Ophthalmology·2022· 9 citedOpen Access
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial
Nature Medicine·2022· 121 citedOpen Access
Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia
Human Mutation·2022· 19 citedOpen Access
Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial
Ophthalmology Science·2022· 16 citedOpen Access
Comparative Natural History of Visual Function From Patients With Biallelic Variants in<i>BBS1</i>and<i>BBS10</i>
Investigative Ophthalmology & Visual Science·2021· 23 citedOpen Access
Cone Deactivation Kinetics and GRK1/GRK7 Expression in Enhanced S Cone Syndrome Caused by Mutations in NR2E3
UNC Libraries·2021· 2 citedOpen Access
Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis
Molecular Therapy·2021· 4 citedOpen Access
Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry
Translational Vision Science & Technology·2021· 7 citedOpen Access
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Frequent Co-authors

Artur V. Cideciyan(26), Tomás S. Alemán(16), Edwin M. Stone(14), Alexander Sumaroka(11), William W. Hauswirth(10), Jean Bennett(9), Sharon Schwartz(9), Alejandro J. Román(9), Albert M. Maguire(8), Val C. Sheffield(8), Sanford L. Boye(6), Gerald A. Fishman(6), Richard G. Weleber(6), Ann H. Milam(6), Shalesh Kaushal(5), Elizabeth A. M. Windsor(5), Susanne Kohl(5), Eberhart Zrenner(5), Bernd Wissinger(5), Ulrich Kellner(5)