Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Therapeutic potential of allogeneic iPS cell-derived RPE transplantation for RPE65-LCA.
Maeda A et al.
American Journal of Ophthalmology Case Reports, 2025
Bystander editing by adenine base editors impairs vision restoration in a mouse model of Leber congenital amaurosis.
Lee SH et al.
Molecular Therapy. Methods & Clinical Development, 2025
Bystander base editing interferes with visual function restoration in Leber congenital amaurosis.
Lee SH et al.
Biorxiv : the Preprint Server for Biology, 2024
A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan.
Higa N et al.
Frontiers in Medicine, 2024
In vivo application of base and prime editing to treat inherited retinal diseases.
Jo DH et al.
Progress in Retinal and Eye Research, 2023
Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.
Han J et al.
Korean Journal of Ophthalmology : Kjo, 2023
Visual function restoration in a mouse model of Leber congenital amaurosis via therapeutic base editing.
Jo DH et al.
Molecular Therapy. Nucleic Acids, 2023
Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Wu J et al.
Peerj, 2023
37547722 (PubMed )
Supplement: peerj-11-15702-s004.xlsx › Table_S2
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