Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
CRISPR-free RNA base editing mediated PTC-readthrough restores hearing in mice with Otof nonsense mutation.
Sun H et al.
Nature Communications, 2025
Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.
Damrongchietanon T et al.
Scientific Reports, 2025
Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.
Li J et al.
Heliyon, 2024
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Wang H et al.
Human Genetics, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.
Ford CL et al.
Human Genetics, 2023
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
Thorpe RK et al.
Human Genetics, 2022
Targeted next-generation sequencing of deaf patients from Southwestern China.
Li Y et al.
Molecular Genetics & Genomic Medicine, 2021
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.
Vona B et al.
Genes, 2020
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
Iwasa YI et al.
Plos One, 2019
A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss.
Tabatabaiefar MA et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2018
Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.
He L et al.
Scientific Reports, 2017
Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.
Tang F et al.
Bmc Medical Genetics, 2017
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
Wu H et al.
Plos One, 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
Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.
Chiu YH et al.
Audiology & Neuro-otology, 2010
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
Choi BY et al.
Clinical Genetics, 2009