Michael B Gorin
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Explore the profile of Michael B Gorin including associated specialties, affiliations and a list of published articles.
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104
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4010
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Recent Articles
11.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, et al.
Brain
. 2022 Jul;
145(9):3308-3327.
PMID: 35851598
Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural...
12.
Chew L, Mohammadzadeh V, Mohammadi M, Toriz V, Rosa N, Gorin M, et al.
Ophthalmol Glaucoma
. 2022 Jun;
6(1):68-77.
PMID: 35750324
Objective: To investigate the confounding effect of nonexudative age-related macular degeneration (AMD), specifically drusen and outer retinal atrophy, on the architecture and automated segmentation of the inner retinal layers as...
13.
Matynia A, Wang J, Kim S, Li Y, Dimashkie A, Jiang Z, et al.
Transl Vis Sci Technol
. 2022 Mar;
11(3):33.
PMID: 35348597
Purpose: Modern molecular genetics has revolutionized gene discovery, genetic diagnoses, and precision medicine yet many patients remain unable to benefit from these advances as disease-causing variants remain elusive for up...
14.
Jiang Y, Chiu C, Yan Q, Chen W, Gorin M, Conley Y, et al.
J Am Stat Assoc
. 2021 Jul;
116(534):531-545.
PMID: 34321704
Genetics plays a role in age-related macular degeneration (AMD), a common cause of blindness in the elderly. There is a need for powerful methods for carrying out region-based association tests...
15.
Igelman A, Ku C, Palma M, Georgiou M, Schiff E, Lam B, et al.
Ophthalmic Genet
. 2021 Jul;
42(6):664-673.
PMID: 34223797
Atypical Usher syndrome (USH) is poorly defined with a broad clinical spectrum. Here, we characterize the clinical phenotype of disease caused by variants in , and .Chart review evaluating demographic,...
16.
Palma M, Igelman A, Ku C, Burr A, You J, Place E, et al.
Invest Ophthalmol Vis Sci
. 2021 Jun;
62(7):27.
PMID: 34185059
Purpose: The purpose of this study was to characterize the phenotypic spectrum of ophthalmic findings in patients with Alagille syndrome. Methods: We conducted a retrospective, observational, multicenter, study on 46...
17.
Lin A, Lee C, Blazes M, Lee A, Gorin M
Transl Vis Sci Technol
. 2021 May;
10(6):32.
PMID: 34038502
Purpose: Optical coherence tomography (OCT) is widely used in the management of retinal pathologies, including age-related macular degeneration (AMD), diabetic macular edema (DME), and primary open-angle glaucoma (POAG). We used...
18.
Ahn J, Chiang J, Gorin M
Ophthalmic Genet
. 2020 Jun;
41(4):386-389.
PMID: 32594822
Background: Recent advances in genetic sequencing techniques have improved the overall diagnostic yield for finding genetic causes for inherited retinal dystrophies (IRD). Rod-cone dystrophy is the most common IRD and...
19.
Khan M, Cornelis S, Del Pozo-Valero M, Whelan L, Runhart E, Mishra K, et al.
Genet Med
. 2020 Apr;
22(7):1235-1246.
PMID: 32307445
Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in...
20.
Gorin M, daSilva M
Exp Eye Res
. 2019 Dec;
191:107894.
PMID: 31862397
Age-related macular degeneration (AMD) is a complex disease with multiple genetic and environmental risk factors. In the age of molecular genetics, many investigators have established a link between genes and...