Samuel G Jacobson
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Explore the profile of Samuel G Jacobson including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Roman A, Cideciyan A, Wu V, Mascio A, Krishnan A, Garafalo A, et al.
BMC Ophthalmol
. 2022 Jun;
22(1):266.
PMID: 35701753
Background: Inherited retinal degenerations (IRDs) affect daylight and night vision to different degrees. In the current work, we devise a method to quantify mobility under dark-adapted conditions in patients with...
12.
Russell S, Drack A, Cideciyan A, Jacobson S, Leroy B, Van Cauwenbergh C, et al.
Nat Med
. 2022 Apr;
28(5):1014-1021.
PMID: 35379979
CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindness. Sepofarsen is an RNA antisense oligonucleotide targeting the c.2991+1655A>G variant in the CEP290 gene to...
13.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, et al.
Hum Mutat
. 2022 Mar;
43(7):832-858.
PMID: 35332618
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3,...
14.
Grudzinska Pechhacker M, Jacobson S, Drack A, Di Scipio M, Strubbe I, Pfeifer W, et al.
Invest Ophthalmol Vis Sci
. 2021 Dec;
62(15):26.
PMID: 34940782
Purpose: The purpose of this study was to compare the natural history of visual function change in cohorts of patients affected with retinal degeneration due to biallelic variants in Bardet-Biedl...
15.
Aguirre G, Cideciyan A, Dufour V, Ripolles-Garcia A, Sudharsan R, Swider M, et al.
Mol Ther
. 2021 Oct;
29(12):3528.
PMID: 34715016
No abstract available.
16.
Ratnapriya R, Jacobson S, Cideciyan A, English M, Roman A, Sumaroka A, et al.
Front Cell Dev Biol
. 2021 Sep;
9:720782.
PMID: 34485303
Despite major progress in the discovery of causative genes, many individuals and families with inherited retinal degenerations (IRDs) remain without a molecular diagnosis. We applied whole exome sequencing to identify...
17.
Krishnan A, Roman A, Swider M, Jacobson S, Cideciyan A
Transl Vis Sci Technol
. 2021 Sep;
10(11):3.
PMID: 34473224
Purpose: To investigate the validity and reliability of macular rod photoreceptor function measurement with a microperimeter. Methods: Macular sensitivity in dark-adapted retinitis pigmentosa (RP) patients (22 eyes; 9-67 years of...
18.
Roman A, Cideciyan A, Wu V, Garafalo A, Jacobson S
Prog Retin Eye Res
. 2021 Aug;
87:101000.
PMID: 34464742
Disease mechanisms have become better understood in previously incurable forms of early-onset severe retinal dystrophy, such as Leber congenital amaurosis (LCA). This has led to novel treatments and clinical trials...
19.
Cideciyan A, Krishnan A, Roman A, Sumaroka A, Swider M, Jacobson S
Annu Rev Vis Sci
. 2021 Jul;
7:747-772.
PMID: 34255540
Inherited retinal diseases (IRDs) are at the forefront of innovative gene-specific treatments because of the causation by single genes, the availability of microsurgical access for treatment delivery, and the relative...
20.
Jacobson S, Cideciyan A, Ho A, Peshenko I, Garafalo A, Roman A, et al.
iScience
. 2021 May;
24(5):102409.
PMID: 33997691
A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the gene is underway, and early results are summarized. A recombinant adeno-associated virus serotype 5...