Associated Papers
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
CRISPR-free RNA base editing mediated PTC-readthrough restores hearing in mice with Otof nonsense mutation.
Sun H et al.
Nature Communications, 2025
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2025
Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort.
Yan D et al.
Audiology & Neuro-otology, 2025
Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.
Shadab M et al.
Journal of Cellular and Molecular Medicine, 2024
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
Molecular genetic landscape of hereditary hearing loss in Pakistan.
Naz S
Human Genetics, 2022
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity.
Fareed M et al.
Frontiers in Genetics, 2021
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.
Vona B et al.
Genes, 2020
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Yu X et al.
Orphanet Journal of Rare Diseases, 2020
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Angural A et al.
Frontiers in Genetics, 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
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 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
Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India.
Pandey N et al.
The Indian Journal of Medical Research, 2017
Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.
Svidnicki MC et al.
Bmc Medical Genetics, 2015
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 2015
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
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
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Rodríguez-Ballesteros M et al.
Human Mutation, 2008
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
Varga R et al.
Journal of Medical Genetics, 2006
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
Rodríguez-Ballesteros M et al.
Human Mutation, 2003
Association of R1939W and P1987R variants of Otoferlin (OTOF) gene with severe to profound nonsyndromic sensorineural hearing loss in Pakistani subjects.
Naseer H et al.
Pakistan Journal of Medical Sciences, 0