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Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.
PLoS One. 2012;7(2):e31276. doi: 10.1371/journal.pone.0031276. Epub 2012 Feb 24.
PLoS One. 2012.
PMID: 22384008
Free PMC article.
A large cohort study of GJB2 mutations in Japanese hearing loss patients.
Tsukada K, Nishio S, Usami S; Deafness Gene Study Consortium.
Tsukada K, et al.
Clin Genet. 2010 Nov;78(5):464-70. doi: 10.1111/j.1399-0004.2010.01407.x.
Clin Genet. 2010.
PMID: 20497192
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The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Watanabe K, Nishio SY, Usami SI; Deafness Gene Study Consortium.
Watanabe K, et al.
Sci Rep. 2024 Apr 9;14(1):8326. doi: 10.1038/s41598-024-57415-1.
Sci Rep. 2024.
PMID: 38594301
Free PMC article.
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Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.
Miyagawa M, Nishio SY, Usami S; Deafness Gene Study Consortium.
Miyagawa M, et al.
J Hum Genet. 2014 May;59(5):262-8. doi: 10.1038/jhg.2014.12. Epub 2014 Mar 6.
J Hum Genet. 2014.
PMID: 24599119
Free PMC article.
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Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening.
Yano T, Nishio SY, Usami S; Deafness Gene Study Consortium.
Yano T, et al.
J Hum Genet. 2014 Feb;59(2):100-6. doi: 10.1038/jhg.2013.128. Epub 2014 Jan 9.
J Hum Genet. 2014.
PMID: 24401907
Free PMC article.
Clinical Trial.
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