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Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant 多中心临床和功能证据重新分类了复发性非规范丝状蛋白C剪接改变变体 O'Neill, Matthew J.; Chen, Suet Nee; Rumping, Lynne; Johnson, Renee; van Slegtenhorst, Marjon; Glazer, Andrew M.; Yang, Tao; Solus, Joseph F.; Laudeman, Julie; Mitchell, Devyn W.; Vanags, Loren R.; Kroncke, Brett M.; Anderson, Katherine; Gao, Shanshan; Verdonschot, Job A. J.; Brunner, Han; Hellebrekers, Debby; Taylor, Matthew R. G.; Roden, Dan M.; Wessels, Marja W.; Deprez, Ronald H. Lekanne Dit; Fatkin, Diane; Mestroni, Luisa; Shoemaker, M. Benjamin 分享 收藏
Cochlear transcript diversity and its role in auditory functions implied by an otoferlin short isoform Liu, Huihui; Liu, Hongchao; Wang, Longhao; Song, Lei; Jiang, Guixian; Lu, Qing; Yang, Tao; Peng, Hu; Cai, Ruijie; Zhao, Xingle; Zhao, Ting; Wu, Hao 分享 收藏
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel 使用下一代测序面板对中国听力损失儿童进行遗传筛查 Ma, Jing; Ma, Xiuli; Lin, Ken; Huang, Rui; Bi, Xianyun; Ming, Cheng; Li, Li; Li, Xia; Li, Guo; Zhao, Liping; Yang, Tao; Gao, Yingqin; Zhang, Tiesong 分享 收藏
Biallelic p.V37I variant in GJB2 is associated with increasing incidence of hearing loss with age GJB2中的双等位基因p.V37I变体与随着年龄的增长而增加的听力损失发生率相关 Chen, Ying; Wang, Zhili; Jiang, Yi; Lin, Yun; Wang, Xueling; Wang, Zhentao; Tang, Zheng; Wang, Yi; Wang, Jimei; Gao, Yunge; Shi, Wentao; Huang, Zhiwu; Li, Yun; Shi, Junbo; Wang, Xue; Yu, Qiongfei; Ma, Yunqian; Zhou, Jin; Yang, Tao; Wu, Hao 分享 收藏
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study Glazer, Andrew M.; Davogustto, Giovanni; Shaffer, Christian M.; Vanoye, Carlos G.; Desai, Reshma R.; Farber-Eger, Eric H.; Dikilitas, Ozan; Shang, Ning; Pacheco, Jennifer A.; Yang, Tao; Muhammad, Ayesha; Mosley, Jonathan D.; Van Driest, Sara L.; Wells, Quinn S.; Shaffer, Lauren Lee; Kalash, Olivia R.; Wada, Yuko; Bland, Sarah; Yoneda, Zachary T.; Mitchell, Devyn W.; Kroncke, Brett M.; Kullo, Iftikhar J.; Jarvik, Gail P.; Gordon, Adam S.; Larson, Eric B.; Manolio, Teri A.; Mirshahi, Tooraj; Luo, Jonathan Z.; Schaid, Daniel; Namjou, Bahram; Alsaied, Tarek; Singh, Rajbir; Singhal, Ashutosh; Liu, Cong; Weng, Chunhua; Hripcsak, George; Ralston, James D.; McNally, Elizabeth M.; Chung, Wendy K.; Carrell, David S.; Leppig, Kathleen A.; Hakonarson, Hakon; Sleiman, Patrick; Sohn, Sunghwan; Glessner, Joseph; Denny, Joshua; Wei, Wei-Qi; George, Alfred L., Jr.; Shoemaker, M. Benjamin; Roden, Dan M. 分享 收藏
Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice Xu, Pengcheng; Wang, Longhao; Peng, Hu; Liu, Huihui; Liu, Hongchao; Yuan, Qingyue; Lin, Yun; Xu, Jun; Pang, Xiuhong; Wu, Hao; Yang, Tao 分享 收藏
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The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study OTOF相关听神经病谱系障碍的自然史: 一项多中心研究 Thorpe, Ryan K.; Azaiez, Hela; Wu, Peina; Wang, Qiuju; Xu, Lei; Dai, Pu; Yang, Tao; Schaefer, G. Bradley; Peters, B. Robert; Chan, Kenny H.; Schatz, Krista S.; Bodurtha, Joann; Robin, Nathaniel H.; Hirsch, Yoel; Rahbeeni, Zuhair Abdalla; Yuan, Huijun; Smith, Richard J. H. 分享 收藏
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Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families Mei, Xueshuang; Zhou, Yaqi; Amjad, Muhammad; Yang, Weiqiang; Zhu, Rufei; Asif, Muhammad; Hussain, Hafiz Muhammad Jafar; Yang, Tao; Iqbal, Furhan; Hu, Hongyi 分享 收藏
KCNQ1 and Long QT Syndrome in 1/45 Amish The Road From Identification to Implementation of Culturally Appropriate Precision Medicine Streeten, Elizabeth A.; See, Vincent Y.; Jeng, Linda B. J.; Maloney, Kristin A.; Lynch, Megan; Glazer, Andrew M.; Yang, Tao; Roden, Dan; Pollin, Toni I.; Daue, Melanie; Ryan, Kathleen A.; Van Hout, Cristopher; Gosalia, Nehal; Gonzaga-Jauregui, Claudia; Economides, Aris; Perry, James A.; O'Connell, Jeffrey; Beitelshees, Amber; Palmer, Kathleen; Mitchell, Braxton D.; Shuldiner, Alan R. 分享 收藏
THOC1deficiency leads to late-onset nonsyndromic hearing loss throughp53-mediated hair cell apoptosis Zhang, Luping; Gao, Yu; Zhang, Ru; Sun, Feifei; Cheng, Cheng; Qian, Fuping; Duan, Xuchu; Wei, Guanyun; Sun, Cheng; Pang, Xiuhong; Chen, Penghui; Chai, Renjie; Yang, Tao; Wu, Hao; Liu, Dong 分享 收藏
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