Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
700 例临床外显子组测序的分子诊断结果:我们能从回顾性分析中学到什么?
期刊:Journal of Molecular Diagnostics
影响因子:3.4
doi:10.1016/j.jmoldx.2021.12.002
Murrell, Jill R; Nesbitt, Addie May I; Baker, Samuel W; Pechter, Kieran B; Balciuniene, Jorune; Zhao, Xiaonan; Denenberg, Elizabeth H; DeChene, Elizabeth T; Wu, Chao; Jayaraman, Pushkala; Cao, Kajia; Gonzalez, Michael; Devoto, Marcella; Testori, Alessandro; Monos, John D; Dulik, Matthew C; Conlin, Laura K; Luo, Minjie; McDonald Gibson, Kristin; Guan, Qiaoning; Sarmady, Mahdi; Bhoj, Elizabeth; Helbig, Ingo; Zackai, Elaine H; Bedoukian, Emma C; Wilkens, Alisha; Tarpinian, Jennifer; Izumi, Kosuke; Skraban, Cara M; Deardorff, Matthew A; Medne, Livija; Krantz, Ian D; Krock, Bryan L; Santani, Avni B