Associated Papers
Clinical utility of exome sequencing in hearing loss: a retrospective cohort study.
Liu C et al.
Frontiers in Genetics, 2025
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_S9
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Hirsch Y et al.
European Journal of Human Genetics : Ejhg, 2021
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