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
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
García-Bohórquez B et al.
Molecular Therapy. Nucleic Acids, 2024
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G et al.
Genes, 2020
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
Pérez-Carro R et al.
Plos One, 2018
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