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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

Genetics in medicine, 2020-06, Vol.22 (6), p.1079-1087

2020

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Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses

Nature biomedical engineering, 2020-01, Vol.4 (1), p.97-110

2020

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Repair of Rhegmatogenous Retinal Detachment in Choroideremia Secondary to Posterior Extramacular Retinal Hole

Ophthalmic surgery, lasers & imaging retina, 2022-04, Vol.53 (4), p.182-184

2022

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Visual Function in Carriers of X-Linked Retinitis Pigmentosa

Ophthalmology (Rochester, Minn.), 2015-09, Vol.122 (9), p.1899-1906

2015

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Synthetic Adeno-Associated Viral Vector Efficiently Targets Mouse and Nonhuman Primate Retina In Vivo

Human gene therapy, 2018-07, Vol.29 (7), p.771-784

2018

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Repair of Rhegmatogenous Retinal Detachment in Choroideremia Secondary to Posterior Extramacular Retinal Hole

Ophthalmic surgery, lasers & imaging retina, 2024-01, Vol.55 (1), p.9-11

2024

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Gene Editing for CEP290 -Associated Retinal Degeneration

The New England journal of medicine, 2024-06, Vol.390 (21), p.1972

2024

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Biallelic RP1 -associated retinal dystrophies: Expanding the mutational and clinical spectrum

Molecular vision, 2020, Vol.26, p.423-433

2020

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Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa

Genes, 2021-11, Vol.12 (12), p.1853

2021

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Tauroursodeoxycholic acid (TUDCA) protects photoreceptors from cell death after experimental retinal detachment

PloS one, 2011-09, Vol.6 (9), p.e24245

2011

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Peripheral Leakage on Ultra-Widefield Fluorescein Angiography in Patients With Inherited Retinal Degeneration

Journal of vitreoretinal diseases (Print), 2021-03, Vol.5 (2), p.147-156

2021

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Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

PloS one, 2015-11, Vol.10 (11), p.e0142614

2015

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Retinal pigmentary changes in chronic uveitis mimicking retinitis pigmentosa

Graefe's archive for clinical and experimental ophthalmology, 2017-09, Vol.255 (9), p.1801-1810

2017

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Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results

Ophthalmology retina, 2022-12, Vol.6 (12), p.1130

2022

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Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis

Ophthalmology retina, 2022-12, Vol.6 (12), p.1130-1144

2022

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P259: The impact of no-cost testing programs for inherited retinal degeneration on post-testing follow-up genetic services

Genetics in Medicine Open, 2023, Vol.1 (1), p.100287, Article 100287

2023

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Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker

JCI insight, 2023-08, Vol.8 (15)

2023

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Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy

Ophthalmic genetics, 2022-06, Vol.43 (3), p.332-339

2022

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Biomechanical Activation of Vascular Endothelium as a Determinant of Its Functional Phenotype

Proceedings of the National Academy of Sciences - PNAS, 2001-04, Vol.98 (8), p.4478-4485

2001

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Prostaglandin E2 Suppresses Chemokine Production in Human Macrophages through the EP4 Receptor

The Journal of biological chemistry, 2002-11, Vol.277 (46), p.44147-44154

2002

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Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease

Npj genomic medicine, 2024-05, Vol.9 (1), p.31-31, Article 31

2024

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Current Stem-Cell Approaches for the Treatment of Inherited Retinal Degenerations

Seminars in ophthalmology, 2019-05, Vol.34 (4), p.287-292

2019

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P408: Perspectives of rare disease experts on sequencing newborns for treatable genetic conditions

Genetics in Medicine Open, 2023, Vol.1 (1), p.100444, Article 100444

2023

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Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy

American journal of ophthalmology case reports, 2019-09, Vol.15, p.100461-100461, Article 100461

2019

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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses

Repair of Rhegmatogenous Retinal Detachment in Choroideremia Secondary to Posterior Extramacular Retinal Hole

Visual Function in Carriers of X-Linked Retinitis Pigmentosa

Synthetic Adeno-Associated Viral Vector Efficiently Targets Mouse and Nonhuman Primate Retina In Vivo

Repair of Rhegmatogenous Retinal Detachment in Choroideremia Secondary to Posterior Extramacular Retinal Hole

Gene Editing for CEP290 -Associated Retinal Degeneration

Biallelic RP1 -associated retinal dystrophies: Expanding the mutational and clinical spectrum

Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa

Tauroursodeoxycholic acid (TUDCA) protects photoreceptors from cell death after experimental retinal detachment

Peripheral Leakage on Ultra-Widefield Fluorescein Angiography in Patients With Inherited Retinal Degeneration

Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

Retinal pigmentary changes in chronic uveitis mimicking retinitis pigmentosa

Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results

Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis

P259: The impact of no-cost testing programs for inherited retinal degeneration on post-testing follow-up genetic services

Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy

Biomechanical Activation of Vascular Endothelium as a Determinant of Its Functional Phenotype

Prostaglandin E2 Suppresses Chemokine Production in Human Macrophages through the EP4 Receptor

Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease

Current Stem-Cell Approaches for the Treatment of Inherited Retinal Degenerations

P408: Perspectives of rare disease experts on sequencing newborns for treatable genetic conditions

Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy

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