Associated Papers
Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays.
Rosso LE et al.
Biomedicines, 2025
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Wang H et al.
Human Genetics, 2024
38456936 (PubMed )
Supplement: 439_2024_2652_MOESM1_ESM.xlsx › Supplementary_Data_4
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
Yamamoto N et al.
The Journal of Pediatrics, 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 Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Spedicati B et al.
Biomedicines, 2023
Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
Clabout T et al.
Genes, 2022
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.
Vona B et al.
Genes, 2020
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
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.
Zhang QJ et al.
Clinical Genetics, 2016
Novel OTOF mutations in Brazilian patients with auditory neuropathy.
Romanos J et al.
Journal of Human Genetics, 2009
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