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
A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF.
Brownstein Z et al.
Human Genomics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.
Lin PH et al.
Molecular Medicine (cambridge, Mass.), 2025
Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.
Perez SM et al.
Journal of Developmental Biology, 2025
A base editor for the long-term restoration of auditory function in mice with recessive profound deafness.
Cui C et al.
Nature Biomedical Engineering, 2025
Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort.
Yan D et al.
Audiology & Neuro-otology, 2025
Pathogenesis and research progress of OTOF gene related auditory neuropathy: a retrospective review.
Yang JH et al.
American Journal of Translational Research, 2025
AAV-mediated Gene Therapy for Hereditary Deafness: Progress and Perspectives.
Zhang L et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
Hearing loss secondary to variants in the OTOF gene.
Morales-Angulo C et al.
International Journal of Pediatric Otorhinolaryngology, 2024
RNA base editing therapy cures hearing loss induced by OTOF gene mutation.
Xue Y et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L et al.
Human Genomics, 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
Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.
Aliazami F et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
Next-generation sequencing improves precision medicine in hearing loss.
Imizcoz T et al.
Frontiers in Genetics, 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
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I et al.
Human Genetics, 2022
Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients.
Liu M et al.
Molecular Genetics & Genomic Medicine, 2022
Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation.
Wang K et al.
Chinese Neurosurgical Journal, 2022
Case report: Clinical and genetic analysis of a family with nonsyndromic auditory neuropathy.
Jiang L et al.
Frontiers in Pediatrics, 2022
Congenital Deafness and Recent Advances Towards Restoring Hearing Loss.
Renauld JM et al.
Current Protocols, 2021
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G et al.
Genes, 2020
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.
Vona B et al.
Genes, 2020
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
Cochlear Implantation Outcomes in Patients With OTOF Mutations.
Zheng D et al.
Frontiers in Neuroscience, 2020
Auditory Neuropathy Spectrum Disorder (ANSD)-Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families.
Zhai R et al.
Biomed Research International, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
Iwasa YI et al.
Plos One, 2019
Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families.
Qiu Y et al.
Neural Plasticity, 2019
An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder.
Xia H et al.
Current Genomics, 2018
Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.
Mittal R et al.
Gene, 2018
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D et al.
Scientific Reports, 2017
Molecular diagnostics for hereditary hearing loss in children.
Sommen M et al.
Expert Review of Molecular Diagnostics, 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
A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.
Al-Wardy NM et al.
Saudi Medical Journal, 2016
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.
Zhang QJ et al.
Clinical Genetics, 2016
Molecular study of patients with auditory neuropathy.
Carvalho GM et al.
Molecular Medicine Reports, 2016
Auditory neuropathy--neural and synaptic mechanisms.
Moser T et al.
Nature Reviews. Neurology, 2016
Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.
Fedick AM et al.
The Application of Clinical Genetics, 2016
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.
Ammar-Khodja F et al.
Molecular Genetics & Genomic Medicine, 2015
Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.
Jin YJ et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Evidence for genotype-phenotype correlation for OTOF mutations.
Yildirim-Baylan M et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform.
Martins FT et al.
Bmc Medical Genetics, 2013