Associated Papers
Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care.
Colbert BM et al.
The Laryngoscope, 2025
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.
Villafuerte-de la Cruz RA et al.
Bmc Ophthalmology, 2024
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.
Ordoñez-Labastida V et al.
Molecular Vision, 2023
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J et al.
Genes, 2022
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 2022
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.
Young SL et al.
Bmc Ophthalmology, 2022
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P et al.
Plos Genetics, 2021
Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
Lee SY et al.
Experimental & Molecular Medicine, 2021
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
Wafa TT et al.
Clinical Genetics, 2021
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
Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss.
Yu D et al.
Computational and Structural Biotechnology Journal, 2020
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Hypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.
Sarikaya E et al.
Balkan Journal of Medical Genetics : Bjmg, 2011
Mutational spectrum in Usher syndrome type II.
Ouyang XM et al.
Clinical Genetics, 2004
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
Weston MD et al.
American Journal of Human Genetics, 2000
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.
Adato A et al.
Human Mutation, 2000