Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
拓展RNA测序作为罕见孟德尔疾病诊断工具的应用范围
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.04.004
Gonorazky, Hernan D; Naumenko, Sergey; Ramani, Arun K; Nelakuditi, Viswateja; Mashouri, Pouria; Wang, Peiqui; Kao, Dennis; Ohri, Krish; Viththiyapaskaran, Senthuri; Tarnopolsky, Mark A; Mathews, Katherine D; Moore, Steven A; Osorio, Andres N; Villanova, David; Kemaladewi, Dwi U; Cohn, Ronald D; Brudno, Michael; Dowling, James J
