Associated Papers
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.
Young SL et al.
Bmc Ophthalmology, 2022
35346118 (PubMed )
Supplement: 12886_2022_2353_MOESM2_ESM.xlsx › ClinVar_results_with_predictors
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L et al.
International Journal of Molecular Sciences, 2021
34948090 (PubMed )
Supplement: ijms-22-13294-s001.zip › supplementary_tables › TableS2.xlsx › Feuil1
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Fakin A et al.
International Journal of Molecular Sciences, 2021
34638692 (PubMed )
Supplement: ijms-22-10352-s001.zip › ijms-1381333-supplementary.pdf
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
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Neuhaus C et al.
Molecular Genetics & Genomic Medicine, 2017
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
Krawitz PM et al.
Molecular Genetics & Genomic Medicine, 2014
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.
Sodi A et al.
Molecular Vision, 2014
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