Associated Papers
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Zhu L et al.
Ophthalmic Genetics, 2021
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.
Beryozkin A et al.
Frontiers in Cell and Developmental Biology, 2021
34722527 (PubMed )
Supplement: Table_2.XLSX › ______1
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.
Jamshidi F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.
Rim JH et al.
Jama Ophthalmology, 2017
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Ge Z et al.
Scientific Reports, 2015
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
Li L et al.
Plos One, 2011
21602930 (PubMed )
Supplement: pone.0019458.s003.xls › Sheet1
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
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