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Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations2021 Molecular Therapy article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies2023 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report2021 Nature Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED2021 Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype2023 Stem Cell Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials2021 American Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Advantages of robotic assistance over a manual approach in simulated subretinal injections and its relevance for gene therapy2021 Gene Therapy article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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The Role of Small Molecules and Their Effect on the Molecular Mechanisms of Early Retinal Organoid Development2021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C2023 Molecular Therapy — Nucleic Acids article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features2020 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA2020 Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Syndromic retinitis pigmentosa2024 Progress in Retinal and Eye Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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RNA-based therapies in inherited retinal diseases2022 Therapeutic Advances in Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry2021 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Noninvasive Electrical Stimulation Improves Photoreceptor Survival and Retinal Function in Mice with Inherited Photoreceptor Degeneration2020 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 12020 American Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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