Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies
对 82 个基因的综合基因组分析面板进行临床和分析验证，以识别和解释导致遗传性视网膜营养不良的变异
期刊:PLoS One
影响因子:2.9
doi:10.1371/journal.pone.0305422
Jacqueline Chan, Jolyon Holdstock, John Shovelton, James Reid, Graham Speight, Duarte Molha, Venu Pullabhatla, Stephanie Carpenter, Ezam Uddin, Takanori Washio, Hiroko Sato, Yuuki Izumi, Reiko Watanabe, Hayato Niiro, Yoshiyuki Fukushima, Naoko Ashida, Takashi Hirose, Akiko Maeda
