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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
Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Mauricio E. Vargas, +31 more
29citations -
The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene2022 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel Ramos de Carvalho, Nieneke L. Wesseling, +23 more
22citations -
QR‐421a RNA therapy in retinitis pigmentosa due to mutations in USH2A: Stellar trial Phase[AP1] 1b/2 interim results2022 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders
Isabelle S. Audo, David G. Birch, Thiran Jayasundera, Isabelle Meunier, Rachel M. Huckfeldt, Robert K. Koenekoop, +6 more
12citations -
Retinitis Pigmentosa GTPase regulator–Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers2025 Ophthalmology Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nuno Gouveia, Jessica S. Karuntu, Hind Almushattat, Rufino Martins da Silva, Camiel J. F. Boon, João Pedro Marques
4citations -
CRB1 ‐Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow‐Up2026 Clinical and Experimental Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jessica S. Karuntu, Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, +10 more
0citations -
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)2024 Graefe s Archive for Clinical and Experimental Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Berith M. Balfoort, Filip Van den Broeck, Marion M. M. G. Brands, Clara D. van Karnebeek, Arthur A B Bergen, L. Ingeborgh van den Born, +6 more
10citations -
KCNV2-associated retinopathy: genotype–phenotype correlations –KCNV2study group report 32023 British Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Thales A. C. de Guimarães, Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, +30 more
6citations
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