Genetic Testing for Hearing Loss and Social Implementation
Author:
Affiliation:
1. Department of Hearing Implant Sciences Shinshu University School of Medicine
Publisher
Japan Audiological Society
Link
https://www.jstage.jst.go.jp/article/audiology/67/1/67_43/_pdf
Reference20 articles.
1. 1) Abe S, Yamaguchi T, Usami S: Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay. Genet Test 11: 333-340, 2007
2. 2) Usami S, Nishio SY, Nagano M, et al: Deafness Gene Study Consortium. Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. PLoS One 7: e31276, 2012
3. 3) Mori K, Moteki H, Miyagawa M, et al: Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients. PLoS One 11: e0162230, 2016
4. 4) Usami SI, Nishio SY: The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients. Hum Genet 141: 665-681, 2022
5. 5) Nishio SY, Usami SI: The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification. Hum Mutat 38: 252-259, 2017
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