Yasunaga, S. et al. identified a mutation in OTOF, which encodes otoferlin, leading to DFNB9, a non-syndromic form of deafness, in their 1999 study published in Nature Genetics.
In a 2024 article in The Lancet, Lv, J. et al. discussed a single-arm trial on AAV1-hOTOF gene therapy targeting autosomal recessive deafness 9.
A study by Wang, H. et al. in Nature Medicine (2024) presents results from a single-arm trial involving bilateral gene therapy in children affected by autosomal recessive deafness 9.
Cheng, X. et al. compared gene therapy to cochlear implants for restoring hearing and speech perception in individuals with congenital deafness in a 2025 JAMA Neurology study.
Qi, J. et al. conducted a single-arm trial on AAV gene therapy for autosomal recessive deafness 9, published in Nature Medicine in 2025.
Morton, C. C. & Nance, W. E. highlighted newborn hearing screening as a significant advancement in their 2006 article in the New England Journal of Medicine.
Lieu, J. E. C. et al. reviewed hearing loss in children in a 2020 JAMA publication.
Sloan-Heggen, C. M. et al. analyzed comprehensive genetic testing in a study of 1119 patients with hearing loss published in Human Genetics in 2016.
Rodríguez-Ballesteros, M. et al. investigated mutations in the otoferlin gene (OTOF) among those with nonsyndromic hearing impairment in a multicenter study published in 2008.
In 2019, Iwasa, Y. I. et al. conducted a mutation analysis of OTOF using massively parallel DNA sequencing in a cohort of 2,265 patients with sensorineural hearing loss, showcased in PLoS ONE.
Choi, B. Y. et al. focused on the identities and mutation frequencies of the otoferlin gene causing DFNB9 deafness in Pakistan in a 2009 Clinical Genetics article.
Akil, O. et al. studied dual AAV-mediated gene therapy to restore hearing in a mouse model of DFNB9, published in Proceedings of the National Academy of Sciences USA in 2019.
Zhang, Q. J. et al. noted a high prevalence of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder in their 2016 Clinical Genetics study.
Roux, I. et al. emphasized the role of otoferlin in exocytosis at the auditory ribbon synapse in a 2006 article in Cell.
Zhang, L. et al. evaluated the efficacy and safety of AAV1-hOTOF in both mice and nonhuman primates in their 2023 publication in Molecular Therapy: Methods & Clinical Development.
Reisinger, E. & Trapani, I. reported successful outcomes of gene therapy for hereditary deafness in a 2024 The Lancet article.
Necula, V. et al. reviewed vertigo related to otosclerosis and stapes surgery in a 2023 narrative review in Medicina.
Quatre, R. et al. analyzed long-term hearing outcomes from cochlear implantation in severe otosclerosis in a 2025 study in Otolaryngology Head and Neck Surgery.
Terry, B. et al. addressed delayed complications following cochlear implantation in a 2015 article in JAMA Otolaryngology: Head & Neck Surgery.
Keithley, E. M. reported on cochlear aging mechanisms in her 2020 publication in Journal of Neuroscience Research.
Ford, C. L. et al. conducted a systematic review on otoferlin-related hearing loss, exploring natural history and clinical outcomes in 2023 Human Genetics.
Paping, D. E. et al. examined distortion product otoacoustic emissions for detecting early high-frequency hearing loss stages in adolescents, in a 2022 article in Noise Health.
Goutman, J. D. et al. discussed cochlear hair cells and their functions in a 2015 article in FEBS Letters.
Farinetti, A. et al. presented international consensus guidelines for audiological hearing loss assessment in children in 2018 Eur. Ann. Otorhinolaryngol. Head Neck Dis..
Maddox, R. K. et al. evaluated auditory brainstem responses to natural speech in human listeners, published in eNeuro in 2018.
Gransier, R. et al. studied phase-locked activity along the human auditory pathway and its individual variability in a 2021 Scientific Reports article.
Abdala, C. & Visser-Dumont, L. discussed the use of distortion product otoacoustic emissions for hearing assessment since 2001 in Volta Review.
The World Health Organization released the World Report on Hearing in 2021.
Robbins, A. M. et al. focused on evaluating meaningful auditory integration in profoundly hearing-impaired children in a 1991 American Journal of Otology study.
Robbins, A. M. & Osberger, M. J. produced the Meaningful Use of Speech Scale (MUSS) in 1990.
Pennini, P. T. M. & Almeida, K. assessed hearing aid benefits using the Speech, Spatial and Qualities of Hearing Scale in a 2021 article in Codas.
Galvin, K. L. & Noble, W. adapted the speech, spatial, and qualities of hearing scale for use with children in a 2013 publication in Cochlear Implants International.
Archbold, S. et al. studied the inter-user reliability of auditory performance categories in their 1998 article in British Journal of Audiology.
McDaniel, D. M. & Cox, R. M. evaluated the Speech Intelligibility Rating test for hearing aid comparisons in a 1992 Journal of Speech and Hearing Research article.
Fu, Q. J. et al. developed and validated a Mandarin speech perception test in a 2011 Journal of Acoustical Society of America study.
Cheng, X. et al. found that music training can enhance music and speech perception in pediatric Mandarin-speaking cochlear implant users in a 2018 article in Trends in Hearing.
Multi-center gene treatment for OTOF-related hearing loss observed for 2.5 years

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