Associated Papers
Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss.
Huang Y et al.
Frontiers in Cell and Developmental Biology, 2023
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_MOESM3_ESM.xlsx › gnomAD_with_predictors
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
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL et al.
Journal of Medical Genetics, 2010
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
Seyedahmadi BJ et al.
Experimental Eye Research, 2004
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