Associated Papers
Atypical presentation of Oguchi disease with severe cystoid macular edema and compound heterozygous SAG pathogenic variants.
Mariscal J et al.
Ophthalmic Genetics, 2026
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort.
Sundaramurthy S et al.
Acta Ophthalmologica, 2025
Advancements and future directions in Oguchi disease research.
Fan F et al.
International Ophthalmology, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Genetic analysis and clinical features of three Chinese patients with Oguchi disease.
Wei X et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2023
Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.
Tawfik CA et al.
Bmc Ophthalmology, 2022
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Oguchi's disease: two cases and literature review.
Dai Y et al.
The Journal of International Medical Research, 2021
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.
Huang L et al.
Molecular Vision, 2012
Oguchi disease masked by retinitis pigmentosa.
Sonoyama H et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2011
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
Ávila-Fernández A et al.
Molecular Vision, 2010
Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
Oishi A et al.
American Journal of Ophthalmology, 2007
Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease.
Saga M et al.
Japanese Journal of Ophthalmology, 0