Associated Papers
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.
Basdemirci M et al.
Molecular Syndromology, 2024
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.
Zhang X et al.
Ebiomedicine, 2022
35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2b
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM et al.
Human Molecular Genetics, 2022
Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
Qian T et al.
Bmc Ophthalmology, 2022
RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.
Katagiri S et al.
Investigative Ophthalmology & Visual Science, 2020
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Skorczyk-Werner A et al.
Journal of Applied Genetics, 2015
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
Ajmal M et al.
Molecular Vision, 2012
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