Associated Papers
Structure and function of otoferlin, a synaptic protein of sensory hair cells essential for hearing.
Chen H et al.
Science Advances, 2025
41091875 (PubMed )
Supplement: sciadv.ady8532_sm.pdf
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.
Vona B et al.
Genes, 2020
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Novel OTOF gene mutations identified using a massively parallel DNA sequencing technique in DFNB9 deafness.
Wang Y et al.
Acta Oto-laryngologica, 2018
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