Associated Papers
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.
Kraatari-Tiri M et al.
International Journal of Audiology, 2025
NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.
Niepokój K et al.
Journal of Applied Genetics, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.
Zhuri D et al.
The Journal of International Advanced Otology, 2024
Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.
Sansović I et al.
Croatian Medical Journal, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
Ramzan M et al.
Journal of Human Genetics, 2023
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Pál M et al.
International Journal of Molecular Sciences, 2023
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY 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
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Hirsch Y et al.
European Journal of Human Genetics : Ejhg, 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
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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Recessive gene disruptions in autism spectrum disorder.
Doan RN et al.
Nature 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
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
Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing.
Zarepour N et al.
Audiology & Neuro-otology, 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
Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
Zhang F et al.
Neural Plasticity, 2018
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Rehman AU et al.
Human Mutation, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
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
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
Brownstein Z et al.
Genome Biology, 2011
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A et al.
Ear and Hearing, 0
Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.
Tropitzsch A et al.
Ear and Hearing, 0