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Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration

Scientific reports, 2022-09, Vol.12 (1), p.15273-15273, Article 15273

2022

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Analysis of the ABCA4 genomic locus in Stargardt disease

Human molecular genetics, 2014-12, Vol.23 (25), p.6797-6806

2014

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Genetics and molecular pathology of Stargardt-like macular degeneration

Progress in retinal and eye research, 2010-05, Vol.29 (3), p.191-207

2010

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Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice

Scientific reports, 2020-11, Vol.10 (1), p.19013, Article 19013

2020

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Status of B-vitamins and homocysteine in diabetic retinopathy: association with vitamin-B12 deficiency and hyperhomocysteinemia

PloS one, 2011-11, Vol.6 (11), p.e26747

2011

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Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse

PloS one, 2018-01, Vol.13 (1), p.e0190514

2018

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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Investigative ophthalmology & visual science, 2017-04, Vol.58 (4), p.2218-2238

2017

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Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci

Stem cell reports, 2019-06, Vol.12 (6), p.1342-1353

2019

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Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

PloS one, 2015-09, Vol.10 (9), p.e0136561-e0136561

2015

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An Update on the Genetics of Usher Syndrome

Journal of ophthalmology, 2011-01, Vol.2011 (2011), p.1-8

2011

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Rescue of photoreceptor degeneration by curcumin in transgenic rats with P23H rhodopsin mutation

PloS one, 2011-06, Vol.6 (6), p.e21193

2011

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A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration

Human molecular genetics, 2011-05, Vol.20 (10), p.2000-2014

2011

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Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities

PloS one, 2012-11, Vol.7 (11), p.e50205-e50205

2012

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Complement Factor H: Spatial and Temporal Expression and Localization in the Eye

Investigative ophthalmology & visual science, 2006-09, Vol.47 (9), p.4091-4097

2006

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A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 ( Asrgl1 ) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype

Genes, 2022-08, Vol.13 (8), p.1461

2022

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High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy

Investigative ophthalmology & visual science, 2011-11, Vol.52 (12), p.9053-9060

2011

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A degenerative retinal process in HIV-associated non-infectious retinopathy

PloS one, 2013-09, Vol.8 (9), p.e74712-e74712

2013

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A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

American journal of human genetics, 2010-10, Vol.87 (4), p.523-531

2010

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Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

Human genome variation, 2020, Vol.7 (1), p.14-14, Article 14

2020

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Phenotypic Variability Associated with the D226N Allele of IMPDH1

Ophthalmology (Rochester, Minn.), 2015-02, Vol.122 (2), p.429-431

2015

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Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree

Genes, 2017-08, Vol.8 (9), p.210

2017

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Mouse Model Resources for Vision Research

Journal of ophthalmology, 2011-01, Vol.2011 (2011), p.1-12

2011

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Vitamin A supplementation ameliorates obesity-associated retinal degeneration in WNIN/Ob rats

Nutrition (Burbank, Los Angeles County, Calif.), 2013, Vol.29 (1), p.298-304

2013

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Mouse Choroid Proteome Revisited: Focus on Aging

Advances in experimental medicine and biology, 2023, Vol.1415, p.359-363

2023

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Leber's Hereditary Optic Neuropathy-Gene Therapy : From Benchtop to Bedside

Journal of ophthalmology, 2011-01, Vol.2011 (2011), p.1-16

2011

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Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration

Analysis of the ABCA4 genomic locus in Stargardt disease

Genetics and molecular pathology of Stargardt-like macular degeneration

Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice

Status of B-vitamins and homocysteine in diabetic retinopathy: association with vitamin-B12 deficiency and hyperhomocysteinemia

Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

An Update on the Genetics of Usher Syndrome

Rescue of photoreceptor degeneration by curcumin in transgenic rats with P23H rhodopsin mutation

A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities

Complement Factor H: Spatial and Temporal Expression and Localization in the Eye

A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 ( Asrgl1 ) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy

A degenerative retinal process in HIV-associated non-infectious retinopathy

A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

Phenotypic Variability Associated with the D226N Allele of IMPDH1

Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree

Mouse Model Resources for Vision Research

Vitamin A supplementation ameliorates obesity-associated retinal degeneration in WNIN/Ob rats

Mouse Choroid Proteome Revisited: Focus on Aging

Leber's Hereditary Optic Neuropathy-Gene Therapy : From Benchtop to Bedside

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