Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Baker, Samuel W.; Murrell, Jill R.; Nesbitt, Addie I.; Pechter, Kieran B.; Balciuniene, Jorune; Zhao, Xiaonan; Yu, Zhenming; Denenberg, Elizabeth H.; DeChene, Elizabeth T.; Wilkens, Alisha B.; Bhoj, Elizabeth J.; Guan, Qiaoning; Dulik, Matthew C.; Conlin, Laura K.; Abou Tayoun, Ahmad N.; Luo, Minjie; Wu, Chao; Cao, Kajia; Sarmady, Mahdi; Bedoukian, Emma C.; Tarpinian, Jennifer; Medne, Livija; Skraban, Cara M.; Deardorff, Matthew A.; Krantz, Ian D.; Krock, Bryan L.; Santani, Avni B.

期刊名称The Journal of Molecular Diagnostics
作者Baker, Samuel W.; Murrell, Jill R.; Nesbitt, Addie I.; Pechter, Kieran B.; Balciuniene, Jorune; Zhao, Xiaonan; Yu, Zhenming; Denenberg, Elizabeth H.; DeChene, Elizabeth T.; Wilkens, Alisha B.; Bhoj, Elizabeth J.; Guan, Qiaoning; Dulik, Matthew C.; Conlin, Laura K.; Abou Tayoun, Ahmad N.; Luo, Minjie; Wu, Chao; Cao, Kajia; Sarmady, Mahdi; Bedoukian, Emma C.; Tarpinian, Jennifer; Medne, Livija; Skraban, Cara M.; Deardorff, Matthew A.; Krantz, Ian D.; Krock, Bryan L.; Santani, Avni B.
卷第21卷
期第1期
印刷ISSN1525-1578
文件大小520.75KB
发表时间2019-01
DOI10.1016/j.jmoldx.2018.07.008
页码38-48

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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses