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
1.
Jacobson S, Cideciyan A, Ho A, Peshenko I, Garafalo A, Roman A, et al.
iScience
. 2024 Nov;
27(11):111048.
PMID: 39540020
[This corrects the article DOI: 10.1016/j.isci.2021.102409.].
2.
Monson E, Cideciyan A, Roman A, Sumaroka A, Swider M, Wu V, et al.
Int J Mol Sci
. 2024 Jan;
25(2).
PMID: 38256083
Modern advances in disease genetics have uncovered numerous modifier genes that play a role in the severity of disease expression. One such class of genetic conditions is known as inherited...
3.
Cideciyan A, Jacobson S, Ho A, Swider M, Sumaroka A, Roman A, et al.
Am J Ophthalmol Case Rep
. 2023 Jun;
32:101873.
PMID: 37388818
Purpose: An intravitreally injected antisense oligonucleotide, sepofarsen, was designed to modulate splicing within retinas of patients with severe vision loss due to deep intronic c.2991 + 1655A > G variant...
4.
Chen H, Swaroop M, Papal S, Mondal A, Song H, Campello L, et al.
Elife
. 2023 Mar;
12.
PMID: 36975211
Ciliopathies manifest from sensory abnormalities to syndromic disorders with multi-organ pathologies, with retinal degeneration a highly penetrant phenotype. Photoreceptor cell death is a major cause of incurable blindness in retinal...
5.
Mascio A, Roman A, Cideciyan A, Sheplock R, Wu V, Garafalo A, et al.
Transl Vis Sci Technol
. 2023 Jan;
12(1):25.
PMID: 36692456
Purpose: Blue cone monochromacy (BCM) is an X-linked retinopathy due to mutations in the OPN1LW/OPN1MW gene cluster. Symptoms include reduced visual acuity and disturbed color vision. We studied BCM color...
6.
Cideciyan A, Jacobson S, Swider M, Sumaroka A, Sheplock R, Krishnan A, et al.
Invest Ophthalmol Vis Sci
. 2022 Dec;
63(13):12.
PMID: 36512348
Purpose: The purpose of this study was to evaluate rod and cone function and outer retinal structure within macular lesions, and surrounding extralesional areas of patients with autosomal dominant Best...
7.
Cideciyan A, Jacobson S, Sumaroka A, Swider M, Krishnan A, Sheplock R, et al.
Vision Res
. 2022 Nov;
203:108157.
PMID: 36450205
The only approved retinal gene therapy is for biallelic RPE65 mutations which cause a recessive retinopathy with a primary molecular defect located at the retinal pigment epithelium (RPE). For a...
8.
Jacobson S, Cideciyan A, Ho A, Roman A, Wu V, Garafalo A, et al.
iScience
. 2022 Oct;
25(10):105274.
PMID: 36274938
Signaling of vision to the brain starts with the retinal phototransduction cascade which converts visible light from the environment into chemical changes. Vision impairment results when mutations inactivate proteins of...
9.
Cideciyan A, Jacobson S, Ho A, Krishnan A, Roman A, Garafalo A, et al.
Ophthalmol Sci
. 2022 Oct;
2(2):100133.
PMID: 36249682
Purpose: To understand consequences of reconstituting cone photoreceptor function in congenital binocular blindness resulting from mutations in the () gene. Design: Phase 1b/2 open-label, multicenter, multiple-dose, dose-escalation trial. Participants: A...
10.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan A, Stingl K, et al.
Proc Natl Acad Sci U S A
. 2022 Jun;
119(27):e2115538119.
PMID: 35759666
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor...