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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 cited by 1 patent
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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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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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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 cited by 2 patents
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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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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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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 cited by 1 patent
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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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CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up2021 British Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 22021 American Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences2022 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Charlotte C. Kruijt, Libe Gradstein, Arthur A B Bergen, Ralph J. Florijn, Benoı̂t Arveiler, Eulalie Lasseaux, +10 more
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Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies2021 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Nicoline Elisabeth Schalij-Delfos, Herman E. Talsma, +8 more
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AAV-CRB2 protects against vision loss in an inducible CRB1 retinitis pigmentosa mouse model2020 Molecular Therapy — Methods & Clinical Development article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Mitochondrial retinopathies and optic neuropathies: The impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management2024 Progress in Retinal and Eye Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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