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Author Details

Samuel G Jacobson
Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania
1975
362
94
PMIDPaper TitleJournal TitlePublished Year
36450205Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.Vision Res2023
37388818Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in <i>CEP2</i>90-LCA: Replication in two eyes.Am J Ophthalmol Case Rep2023
36975211Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects.Elife2023
36692456Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.Transl Vis Sci Technol2023
34464742Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease.Prog Retin Eye Res2022
35379979Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.Nat Med2022
35701753Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis.BMC Ophthalmol2022
35759666The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacy.Proc Natl Acad Sci U S A2022
36512348Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations.Invest Ophthalmol Vis Sci2022
36249682Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial.Ophthalmol Sci2022
36274938Night vision restored in days after decades of congenital blindness.iScience2022
35332618Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.Hum Mutat2022
33355362RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).Hum Mol Genet2021
33795869Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report.Nat Med2021
33670772Leber Congenital Amaurosis Due to <i>GUCY2D</i> Mutations: Longitudinal Analysis of Retinal Structure and Visual Function.Int J Mol Sci2021
33781914Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis.Mol Ther2021
34940782Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.Invest Ophthalmol Vis Sci2021
34473224Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry.Transl Vis Sci Technol2021
34485303A Novel <i>ARL3</i> Gene Mutation Associated With Autosomal Dominant Retinal Degeneration.Front Cell Dev Biol2021
34715016Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis.Mol Ther2021
34255540Measures of Function and Structure to Determine Phenotypic Features, Natural History, and Treatment Outcomes in Inherited Retinal Diseases.Annu Rev Vis Sci2021
33997691Safety and improved efficacy signals following gene therapy in childhood blindness caused by <i>GUCY2D</i> mutations.iScience2021
33421946Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology.EBioMedicine2021
31544997Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.Hum Mutat2020
31910043Toxicity and Efficacy Evaluation of an Adeno-Associated Virus Vector Expressing Codon-Optimized <i>RPGR</i> Delivered by Subretinal Injection in a Canine Model of X-linked Retinitis Pigmentosa.Hum Gene Ther2020
32088401Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function.Vision Res2020
31899291Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.Prog Retin Eye Res2020
33344057Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial.Transl Vis Sci Technol2020
32848570Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence.Front Neurosci2020
32724127Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations.Sci Rep2020
32414297Dose Range Finding Studies with Two <i>RPGR</i> Transgenes in a Canine Model of X-Linked Retinitis Pigmentosa Treated with Subretinal Gene Therapy.Hum Gene Ther2020
31604676Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy.Mol Ther2020
30559420Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.Nat Med2019
31717845Autosomal Dominant Retinitis Pigmentosa Due to Class B <i>Rhodopsin</i> Mutations: An Objective Outcome for Future Treatment Trials.Int J Mol Sci2019
31212307Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence.Invest Ophthalmol Vis Sci2019
31009524Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision.Invest Ophthalmol Vis Sci2019
31117170Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for <i>NR2E3</i> Clinical Treatment Trials.Int J Mol Sci2019
31058429Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.Hum Mutat2019
30622141A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.J Biol Chem2019
30285110Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.Hum Mol Genet2019
29276052Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.Ophthalmology2018
29971438Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.Invest Ophthalmol Vis Sci2018
30127005Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector.Proc Natl Acad Sci U S A2018
30208424Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years.Invest Ophthalmol Vis Sci2018
30225158Translational Retinal Research and Therapies.Transl Vis Sci Technol2018
29953849Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation.Am J Ophthalmol2018
30516820Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations.Invest Ophthalmol Vis Sci2018
29559409Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.Am J Ophthalmol2018
29507198<i>BEST1</i> gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.Proc Natl Acad Sci U S A2018
28025326Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.Hum Mol Genet2017
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Collaborators

Artur V Cideciyan
Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania
Co-authored papers 210
Edwin M Stone
Carver College of Medicine, University of Iowa, USA Institute for Vision Research
Co-authored papers 77
Anand Swaroop
National Eye Institute, National Institutes of Health
Co-authored papers 35
Gerald A Fishman
University of Illinois at Chicago
Co-authored papers 29
Val C Sheffield
Carver College of Medicine, University of Iowa
Co-authored papers 25
Richard G Weleber
Casey Eye Institute, Oregon Health & Science University
Co-authored papers 23
Alan F Wright
Co-authored papers 22
Jason Charng
University of Western Australia
Co-authored papers 13
David G Birch
Retina Foundation of the Southwest
Co-authored papers 11
Yijun Huang
University of Wisconsin, Wisconsin EyeKor Inc.
Co-authored papers 9
Byron L Lam
Bascom Palmer Eye Institute
Co-authored papers 9
Allen C Ho
Wills Eye Hospital/Mid Atlantic Retina
Co-authored papers 8
Arlene V Drack
University of Iowa Carver College of Medicine
Co-authored papers 8
Donald J Zack
Johns Hopkins University School of Medicine
Co-authored papers 7
Andrew J Lotery
University of Southampton
Co-authored papers 6
Maureen G Maguire
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 6
H??l??ne Dollfus
Institut de Genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg
Co-authored papers 6
William J Feuer
From the Bascom Palmer Eye Institute, University of Miami Miller School of Medicine
Co-authored papers 5
Katarina Stingl
University Eye Hospital, University of Tubingen
Co-authored papers 5
Rinki Ratnapriya
National Eye Institute, National Institutes of Health
Co-authored papers 5
Michael B Gorin
Jules Stein Eye Institute
Co-authored papers 5
James A Knowles
Co-authored papers 5
Jacque L Duncan
University of California san francisco
Co-authored papers 5
Martin McKibbin
Leeds Teaching Hospitals NHS Trust
Co-authored papers 4
Terence R Flotte
Co-authored papers 4
Robert F Mullins
the University of Iowa Carver College of Medicine
Co-authored papers 4
Carel B Hoyng
Radboud University Medical Center
Co-authored papers 4
Budd A Tucker
the University of Iowa Carver College of Medicine
Co-authored papers 3
Jane Hu
Co-authored papers 3
Terry A Braun
University of Iowa
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Release 1.2