Associated Papers
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
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
Mutation spectrum in a cohort with familial exudative vitreoretinopathy.
Qu N et al.
Molecular Genetics & Genomic Medicine, 2022
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.
Tao T et al.
Investigative Ophthalmology & Visual Science, 2021
Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.
Sun W et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2021
The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.
Fan F et al.
Bmc Ophthalmology, 2020
Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases.
Li Y et al.
Journal of Ophthalmology, 2020
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.
Li JK et al.
Investigative Ophthalmology & Visual Science, 2018
The characteristics of digenic familial exudative vitreoretinopathy.
Li Y et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2018
Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.
Kondo H et al.
Ophthalmology Science, 0
Select a paper to view details