Associated Papers
Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.
Valenzano R et al.
International Journal of Molecular Sciences, 2026
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J et al.
Hgg Advances, 2023
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Reurink J et al.
Npj Genomic Medicine, 2022
35672333 (PubMed )
Supplement: 41525_2022_306_MOESM1_ESM.pdf
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.
Nishio SY et al.
Human Mutation, 2017
28008688 (PubMed )
Supplement: HUMU-38-252-s001.pdf
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
Yoshimura H et al.
Plos One, 2014
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