The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics
超深度RNA测序在孟德尔遗传病诊断中的应用
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.09.013
Zhao, Sen; Sinson, Jefferson C; Li, Shenglan; Rosenfeld, Jill A; Zapata, Gladys; Macakova, Kristina; Pena, Mezthly; Maywald, Becky; Worley, Kim C; Burrage, Lindsay C; Weisz-Hubshman, Monika; Ketkar, Shamika; Craigen, William; Emrick, Lisa; Clark, Tyson; Lithwick, Gila Yanai; Shipony, Zohar; Eng, Christine; Lee, Brendan; Liu, Pengfei