Associated Papers
Establishment of an induced pluripotent stem cell line from a patient with Leber Congenital Amaurosis.
Zhang ZH et al.
Stem Cell Research, 2026
Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.
Hong YJ et al.
Annals of Laboratory Medicine, 2025
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.
Kuo CY et al.
Journal of Medical Genetics, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
Jin J et al.
Brain Topography, 2022
RDH12 retinopathy: clinical features, biology, genetics and future directions.
Daich Varela M et al.
Ophthalmic Genetics, 2022
Generation of a human induced pluripotent stem cell line (PUMCHi018-A) from an early-onset severe retinal dystrophy patient with RDH12 mutations.
Zou X et al.
Stem Cell Research, 2022
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Zhu L et al.
Ophthalmic Genetics, 2021
Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.
Shen RJ et al.
Orphanet Journal of Rare Diseases, 2021
Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.
Hu B et al.
Frontiers in Oncology, 2021
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K et al.
The British Journal of Ophthalmology, 2020
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X et al.
Retina (philadelphia, Pa.), 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
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
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
Huang L et al.
Scientific Reports, 2017
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
Wang S et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2016
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
Gong B et al.
Journal of Ophthalmology, 2015
Abstracts of the 52nd ISCEV International Symposium, July 10-15, 2014, Boston, MA.
Unknown Author
Documenta Ophthalmologica. Advances in Ophthalmology, 2014
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.
Fu Q et al.
Investigative Ophthalmology & Visual Science, 2013