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Author Details

Radha Ayyagari
Shiley Eye Institute, University of California San Diego
1993
121
37
PMIDPaper TitleJournal TitlePublished Year
37440053A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.Adv Exp Med Biol2023
37440057Mouse Choroid Proteome Revisited: Focus on Aging.Adv Exp Med Biol2023
36011372A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (<i>Asrgl1</i>) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype.Genes (Basel)2022
36088481Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration.Sci Rep2022
33352318Reticular Pseudodrusen in Late-Onset Retinal Degeneration.Ophthalmol Retina2021
34662339Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS Genet2021
33252167Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.Hum Mutat2021
32165823Novel mutations in <i>LTBP2</i> identified in familial cases of primary congenital glaucoma.Mol Vis2020
31760123Role of sorbitol-mediated cellular stress response in obesity-associated retinal degeneration.Arch Biochem Biophys2020
33149214Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice.Sci Rep2020
32411380Mutations in <i>CERKL</i> and <i>RP1</i> cause retinitis pigmentosa in Pakistani families.Hum Genome Var2020
29361356The African Descent and Glaucoma Evaluation Study (ADAGES) III: Contribution of Genotype to Glaucoma Phenotype in African Americans: Study Design and Baseline Data.Ophthalmology2019
31688885Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.JAMA2019
31385385Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.Aging Cell2019
31523121Association of severity of primary open-angle glaucoma with serum vitamin D levels in patients of African descent.Mol Vis2019
31080113Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci.Stem Cell Reports2019
30499344Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human <i>MFRP</i>-Associated Retinopathy.Hum Gene Ther2019
30352225Genetic Architecture of Primary Open-Angle Glaucoma in Individuals of African Descent: The African Descent and Glaucoma Evaluation Study III.Ophthalmology2019
28945494Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.Ophthalmic Genet2018
30157172Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.PLoS Genet2018
29978320IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.Hum Genet2018
29721948Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees.Adv Exp Med Biol2018
29721947Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.Adv Exp Med Biol2018
29760827Transcriptome Analysis of Orbital Adipose Tissue in Active Thyroid Eye Disease Using Next Generation RNA Sequencing Technology.Open Ophthalmol J2018
29293603Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse.PLoS One2018
28005406A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.Genet Test Mol Biomarkers2017
28130426Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.Physiol Genomics2017
28418496Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Invest Ophthalmol Vis Sci2017
28465658Impact of obesity with impaired glucose tolerance on retinal degeneration in a rat model of metabolic syndrome.Mol Vis2017
28973684A mutation in IFT43 causes non-syndromic recessive retinal degeneration.Hum Mol Genet2017
29065517Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210.Genes (Basel)2017
28837078Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.Genes (Basel)2017
25007332Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.Ophthalmic Genet2016
27764769Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.Physiol Genomics2016
27917291Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.Hum Genome Var2016
27388725LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.Retina2016
27440997Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Mol Vis2016
27307693Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.Mol Vis2016
27106100A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.Hum Mol Genet2016
25439607Phenotypic variability associated with the D226N allele of IMPDH1.Ophthalmology2015
26628857Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.Mol Vis2015
26352687Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.PLoS One2015
26321862Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.Mol Vis2015
25814825Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model.Mol Vis2015
25744975Biogeographic Ancestry in the African Descent and Glaucoma Evaluation Study (ADAGES): Association With Corneal and Optic Nerve Structure.Invest Ophthalmol Vis Sci2015
24644051In vivo effect of mutant ELOVL4 on the expression and function of wild-type ELOVL4.Invest Ophthalmol Vis Sci2014
25082885Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.Invest Ophthalmol Vis Sci2014
25082829Analysis of the ABCA4 genomic locus in Stargardt disease.Hum Mol Genet2014
24603341exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.Genomics2014
23036575Vitamin A supplementation ameliorates obesity-associated retinal degeneration in WNIN/Ob rats.Nutrition2013
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University of California san francisco
Co-authored papers 10
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Shiley Eye Institute, University of California
Co-authored papers 9
Kelly A Frazer
University of California, USA Institute for Genomic Medicine
Co-authored papers 8
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Co-authored papers 6
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Co-authored papers 6
Jeffrey M Liebmann
Edward S. Harkness Eye Institute, Columbia University Medical Center
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Linda M Zangwill
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Co-authored papers 6
Christopher A Girkin
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Co-authored papers 6
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The Scripps Research Institute
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Rando Allikmets
Columbia University Medical Center
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Jerome I Rotter
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Yii-Der Ida Chen
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Amalio Telenti
Vir Biotechnology Inc.
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Xiuqing Guo
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Maggie C Y Ng
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Donald W Bowden
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Robert Ritch
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Kang Zhang
College of Animal Science and Technology, Guangxi University
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Santa J Tumminia
National Eye Institute
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Gerald A Fishman
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Catherine A Cukras
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Brian C Samuels
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Release 1.2