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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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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

2024

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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

2022

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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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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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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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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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383. Ancestral AAV Demonstrates Unique Transduction Properties in Mouse and Primate

Molecular therapy, 2015-05, Vol.23, p.S152-S153

2015

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Mechanosensitive endothelial gene expression profiles: scripts for the role of hemodynamics in atherogenesis?

Annals of the New York Academy of Sciences, 2001-12, Vol.947 (1), p.1-6

2001

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

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

2022

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Mechanosensitive Endothelial Gene Expression Profiles

Annals of the New York Academy of Sciences, 2001-12, Vol.947 (1), p.1-6

2001

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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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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

2020

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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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High-Resolution Optical Coherence Tomography Findings in Solar Maculopathy and the Differential Diagnosis of Outer Retinal Holes

American journal of ophthalmology, 2011-09, Vol.152 (3), p.413-419.e6

2011

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Characterizing variants of unknown significance in rhodopsin: A functional genomics approach

Human mutation, 2019-08, Vol.40 (8), p.1127-1144

2019

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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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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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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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Outcomes in Autoimmune Retinopathy Patients Treated With Rituximab

American journal of ophthalmology, 2017-08, Vol.180, p.124-132

2017

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Management of Cystoid Macular Edema in Retinitis Pigmentosa

Seminars in ophthalmology, 2017-01, Vol.32 (1), p.43-51

2017

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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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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

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

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

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

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

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

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

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

383. Ancestral AAV Demonstrates Unique Transduction Properties in Mouse and Primate

Mechanosensitive endothelial gene expression profiles: scripts for the role of hemodynamics in atherogenesis?

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

Mechanosensitive Endothelial Gene Expression Profiles

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

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

Visual Function in Carriers of X-Linked Retinitis Pigmentosa

High-Resolution Optical Coherence Tomography Findings in Solar Maculopathy and the Differential Diagnosis of Outer Retinal Holes

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach

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

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

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

Outcomes in Autoimmune Retinopathy Patients Treated With Rituximab

Management of Cystoid Macular Edema in Retinitis Pigmentosa

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

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