Associated Papers
Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.
Perez SM et al.
Journal of Developmental Biology, 2025
Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.
Raghuvanshi R et al.
Genetic Testing and Molecular Biomarkers, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss.
Miyanohara I et al.
Genes, 2024
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.
Frohne A et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2021
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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
Kim BJ et al.
The Journal of Gene Medicine, 2018
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Sampaio-Silva J et al.
Annals of Human Genetics, 2018
Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature.
Talebi F et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics.
Miyagawa M et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.
Kwon TJ et al.
Open Biology, 2014
Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis.
Oonk AM et al.
Hearing Research, 2013
Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.
Topsakal V et al.
Audiology & Neuro-otology, 2010
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Sanggaard KM et al.
American Journal of Medical Genetics. Part A, 2008