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21,059 results

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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.
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.
Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China.
Wang Q, Xiang J, Sun J, Yang Y, Guan J, Wang D, Song C, Guo L, Wang H, Chen Y, Leng J, Wang X, Zhang J, Han B, Zou J, Yan C, Zhao L, Luo H, Han Y, Yuan W, Zhang H, Wang W, Wang J, Yang H, Xu X, Yin Y, Morton CC, Zhao L, Zhu S, Shen J, Peng Z. Wang Q, et al. Among authors: shen j. Genet Med. 2019 Oct;21(10):2231-2238. doi: 10.1038/s41436-019-0481-6. Epub 2019 Mar 20. Genet Med. 2019. PMID: 30890784 Free 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.
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Shen J, et al. Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160754 Free PMC article.
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group. Oza AM, et al. Among authors: shen j. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. Hum Mutat. 2018. PMID: 30311386 Free PMC article.
21,059 results
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