Associated Papers
Aqueous Humor Exosomal Membrane Proteins: Decoding Pathogenic Molecular Signatures in Retinitis Pigmentosa.
Zhu Q et al.
Translational Vision Science & Technology, 2025
41384798 (PubMed )
Supplement: tvst-14-12-15_s008.xlsx › Sheet1
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.
Huang YS et al.
Investigative Ophthalmology & Visual Science, 2025
41060150 (PubMed )
Supplement: iovs-66-13-12_s002.xlsx › Table_S4-diagnosed_cases
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population.
Wang DD et al.
Current Eye Research, 2022
Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.
Li Y et al.
Bmc Ophthalmology, 2022
Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.
Dawood M et al.
International Journal of Ophthalmology, 2021
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.
Kim MS et al.
Journal of Korean Medical Science, 2019
Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.
Zhang S et al.
Ophthalmic Genetics, 2018
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
Wang L et al.
Genes, 2018
30029497 (PubMed )
Supplement: genes-09-00360-s001.zip › TableS1.xlsx › Sheet1
[A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].
Cui Y et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2003
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