Associated Papers
Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.
Perez SM et al.
Journal of Developmental Biology, 2025
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Wang H et al.
Human Genetics, 2024
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Alkhidir S et al.
Scientific Reports, 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
Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature.
Forli F et al.
Medicina (kaunas, Lithuania), 2023
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
Thorpe RK et al.
Human Genetics, 2022
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Iwasa YI et al.
Human Genetics, 2022
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.
Vona B et al.
Genes, 2020
Cochlear Implantation Outcomes in Patients With OTOF Mutations.
Zheng D et al.
Frontiers in Neuroscience, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants.
Strenzke N et al.
The Embo Journal, 2016
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.
Zhang QJ et al.
Clinical 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
Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations.
Santarelli R et al.
Hearing Research, 2015
Evidence for genotype-phenotype correlation for OTOF mutations.
Yildirim-Baylan M et al.
International Journal of Pediatric Otorhinolaryngology, 2014
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.
Matsunaga T et al.
Clinical Genetics, 2012
Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds.
Kitao K et al.
Ear and Hearing, 0
Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.
Santarelli R et al.
Ear and Hearing, 0
Genetic diagnosis of childhood sensorineural hearing loss.
Reda Del Barrio S et al.
Acta Otorrinolaringologica Espanola, 0