Associated Papers
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
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S8_USH2A_variants
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
A genetic basis for mechanosensory traits in humans.
Frenzel H et al.
Plos Biology, 2012
22563300 (PubMed )
Supplement: pbio.1001318.s011.pdf
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Jaijo T et al.
Investigative Ophthalmology & Visual Science, 2010
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.
Bernal S et al.
Clinical Genetics, 2005
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
Nájera C et al.
Human Mutation, 2002
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