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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. Among authors: shen j. 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.
Gene editing in a Myo6 semi-dominant mouse model rescues auditory function.
Xue Y, Hu X, Wang D, Li D, Li Y, Wang F, Huang M, Gu X, Xu Z, Zhou J, Wang J, Chai R, Shen J, Chen ZY, Li GL, Yang H, Li H, Zuo E, Shu Y. Xue Y, et al. Among authors: shen j. Mol Ther. 2022 Jan 5;30(1):105-118. doi: 10.1016/j.ymthe.2021.06.015. Epub 2021 Jun 24. Mol Ther. 2022. PMID: 34174443 Free PMC article.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA; ClinGen Hearing Loss Clinical Domain Working Group. Patel MJ, et al. Among authors: shen j. Genet Med. 2021 Nov;23(11):2208-2212. doi: 10.1038/s41436-021-01254-2. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230634 Free PMC article.
Concurrent hearing and genetic screening in a general newborn population.
Guo L, Xiang J, Sun L, Yan X, Yang J, Wu H, Guo K, Peng J, Xie X, Yin Y, Wang J, Yang H, Shen J, Zhao L, Peng Z. Guo L, et al. Among authors: shen j. Hum Genet. 2020 Apr;139(4):521-530. doi: 10.1007/s00439-020-02118-6. Epub 2020 Jan 30. Hum Genet. 2020. PMID: 32002660 Clinical Trial.
A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.
Shearer AE, Shen J, Amr S, Morton CC, Smith RJ; Newborn Hearing Screening Working Group of the National Coordinating Center for the Regional Genetics Networks. Shearer AE, et al. Among authors: shen j. Genet Med. 2019 Nov;21(11):2614-2630. doi: 10.1038/s41436-019-0563-5. Epub 2019 Jun 7. Genet Med. 2019. PMID: 31171844 Free PMC article.
Loss of LDAH associated with prostate cancer and hearing loss.
Currall BB, Chen M, Sallari RC, Cotter M, Wong KE, Robertson NG, Penney KL, Lunardi A, Reschke M, Hickox AE, Yin Y, Wong GT, Fung J, Brown KK, Williamson RE, Sinnott-Armstrong NA, Kammin T, Ivanov A, Zepeda-Mendoza CJ, Shen J, Quade BJ, Signoretti S, Arnos KS, Banks AS, Patsopoulos N, Liberman MC, Kellis M, Pandolfi PP, Morton CC. Currall BB, et al. Among authors: shen j. Hum Mol Genet. 2018 Dec 15;27(24):4194-4203. doi: 10.1093/hmg/ddy310. Hum Mol Genet. 2018. PMID: 30169630 Free PMC article.
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