Associated Papers
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
Select autosomal dominant DFNA11 deafness variants activate Myo7A targeting in epithelial cells.
Acharya P et al.
Journal of Cell Science, 2025
Select autosomal dominant DFNA11 deafness mutations activate Myo7A in epithelial cells.
Acharya P et al.
Biorxiv : the Preprint Server for Biology, 2024
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Watanabe K et al.
Scientific Reports, 2024
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Redfield SE et al.
Human Genetics, 2024
PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss.
Redfield SE et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature.
Xia CF et al.
World Journal of Clinical Cases, 2023
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
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
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains.
Joo SY et al.
Biomedicines, 2022
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis.
Yamamoto N et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.
Kim BJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11.
Li L et al.
Acta Oto-laryngologica, 2018
The first sporadic case of DFNA11 identified by next-generation sequencing.
Kaneko Y et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Eisenberger T et al.
Human Mutation, 2014
Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
Sang Q et al.
Plos One, 2013
A DNA variant within the MYO7A promoter regulates YY1 transcription factor binding and gene expression serving as a potential dominant DFNA11 auditory genetic modifier.
Street VA et al.
The Journal of Biological Chemistry, 2011
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.
Sun Y et al.
Journal of Human Genetics, 2011
In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier.
Kallman JC et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2008
Vestibular function in families with inherited autosomal dominant hearing loss.
Street VA et al.
Journal of Vestibular Research : Equilibrium & Orientation, 2008
Cochleovestibular and ocular features in a Dutch DFNA11 family.
Bischoff AM et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2006
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).
Di Leva F et al.
Audiology & Neuro-otology, 2006