Associated Papers
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.
Kim YS et al.
Scientific Reports, 2022
Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.
Fu Y et al.
Bmc Medical Genomics, 2022
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Adeyemo A et al.
European Journal of Human Genetics : Ejhg, 2022
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss.
Wang XH et al.
Neural Plasticity, 2021
The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis.
Farjami M et al.
Iranian Journal of Basic Medical Sciences, 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
Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.
Wu D et al.
Molecular Genetics & Genomic Medicine, 2020
Cochlear Implantation From the Perspective of Genetic Background.
Usami SI et al.
Anatomical Record (hoboken, N.j. : 2007), 2020
Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family.
Wang L et al.
Neural Plasticity, 2020
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.
Zhang J et al.
Bmc Medical Genetics, 2019
Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.
Mehregan H et al.
Archives of Iranian Medicine, 2019
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss.
Mehregan H et al.
International Journal of Pediatric Otorhinolaryngology, 2019
Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A Mutations.
Akbariazar E et al.
Clinical Medicine Insights. Case Reports, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
Zhang F et al.
Neural Plasticity, 2018
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Rehman AU et al.
Human Mutation, 2016
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
Mori K et al.
Plos One, 2016
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 2015
Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.
Chang MY et al.
Molecules and Cells, 2015
Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis.
Miyagawa M et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
Xia H et al.
Plos One, 2015
Experience of targeted Usher exome sequencing as a clinical test.
Besnard T et al.
Molecular Genetics & Genomic Medicine, 2014
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.
Woo HM et al.
Bmc Medical Genetics, 2013
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M et al.
Plos One, 2013
Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.
Miyagawa M et al.
Plos One, 2013
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.
Fattahi Z et al.
American Journal of Medical Genetics. Part A, 2012
Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss.
Bashir R et al.
European Journal of Medical Genetics, 2012
A mutation in Myo15 leads to Usher-like symptoms in LEW/Ztm-ci2 rats.
Held N et al.
Plos One, 2011
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
Ebermann I et al.
The Journal of Clinical Investigation, 2010
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
Shearer AE et al.
The Laryngoscope, 2009
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.
Nal N et al.
Human Mutation, 2007