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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J. Hirsch Y, et al. Eur J Hum Genet. 2021 Jun;29(6):988-997. doi: 10.1038/s41431-020-00790-w. Epub 2021 Jan 4. Eur J Hum Genet. 2021. PMID: 33398081 Free PMC article.
Clinical Interpretation of Sequence Variants.
Zhang J, Yao Y, He H, Shen J. Zhang J, et al. Curr Protoc Hum Genet. 2020 Jun;106(1):e98. doi: 10.1002/cphg.98. Curr Protoc Hum Genet. 2020. PMID: 32176464 Free PMC article.
Diagnosing and Preventing Hearing Loss in the Genomic Age.
McDermott JH, Molina-Ramírez LP, Bruce IA, Mahaveer A, Turner M, Miele G, Body R, Mahood R, Ulph F, MacLeod R, Harvey K, Booth N, Demain LAM, Wilson P, Black GC, Morton CC, Newman WG. McDermott JH, et al. Trends Hear. 2019 Jan-Dec;23:2331216519878983. doi: 10.1177/2331216519878983. Trends Hear. 2019. PMID: 31621509 Free PMC article. Review.
Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.
Dai P, Huang LH, Wang GJ, Gao X, Qu CY, Chen XW, Ma FR, Zhang J, Xing WL, Xi SY, Ma BR, Pan Y, Cheng XH, Duan H, Yuan YY, Zhao LP, Chang L, Gao RZ, Liu HH, Zhang W, Huang SS, Kang DY, Liang W, Zhang K, Jiang H, Guo YL, Zhou Y, Zhang WX, Lyu F, Jin YN, Zhou Z, Lu HL, Zhang X, Liu P, Ke J, Hao JS, Huang HM, Jiang D, Ni X, Long M, Zhang L, Qiao J, Morton CC, Liu XZ, Cheng J, Han DM. Dai P, et al. Am J Hum Genet. 2019 Oct 3;105(4):803-812. doi: 10.1016/j.ajhg.2019.09.003. Epub 2019 Sep 26. Am J Hum Genet. 2019. PMID: 31564438 Free PMC article.
Gene therapy for hearing loss.
Omichi R, Shibata SB, Morton CC, Smith RJH. Omichi R, et al. Hum Mol Genet. 2019 Oct 1;28(R1):R65-R79. doi: 10.1093/hmg/ddz129. Hum Mol Genet. 2019. PMID: 31227837 Free PMC article. Review.
13 results