Associated Papers
Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.
Rodriguez-Martinez AC et al.
Ophthalmology Science, 2026
Detailed Comparison Between Two Main Phenotypes of CRB1-Related Retinal Dystrophy, Pan-retinopathy and Maculopathy.
Zou X et al.
Investigative Ophthalmology & Visual Science, 2025
Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.
Huang YS et al.
Investigative Ophthalmology & Visual Science, 2025
Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials.
Jin Y et al.
Investigative Ophthalmology & Visual Science, 2024
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC et al.
International Journal of Molecular Sciences, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Daich Varela M et al.
American Journal of Ophthalmology, 2023
A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
Duan W et al.
Bmc Medical Genomics, 2022
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.
Grudzinska Pechhacker MK et al.
Ophthalmic Genetics, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
Guo X et al.
Molecular Medicine Reports, 2019
Retinal miRNAs variations in a large cohort of inherited retinal disease.
Huang XF et al.
Ophthalmic Genetics, 2018
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y et al.
Experimental Eye Research, 2016
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa.
Shen T et al.
Molecular Medicine Reports, 2015
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
Yang L et al.
Molecular Vision, 2014
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K et al.
Human Mutation, 2012
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
Li L et al.
Plos One, 2011