Associated Papers
The potential use of anti-codon engineered tRNAs (ACE-tRNAs) to treat nonsense variants causing inherited retinal diseases.
Sarma AS et al.
Molecular Aspects of Medicine, 2026
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2025
Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal Disorders.
Kong MD et al.
International Journal of Molecular Sciences, 2025
Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation.
Savastano MC et al.
Translational Vision Science & Technology, 2024
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.
D'Esposito F et al.
Medicina (kaunas, Lithuania), 2024
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.
Cristofoli F et al.
Genes, 2023
Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.
Sather R et al.
International Journal of Molecular Sciences, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
Méjécase C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa.
Nishiguchi KM et al.
Japanese Journal of Ophthalmology, 2020
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
Karali M et al.
International Journal of Molecular Sciences, 2019