Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
RNA测序在罕见病队列中的临床应用及分子层面的见解
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-025-01494-w
Stark, Jamie C; Pipko, Neta; Liang, Yijing; Szuto, Anna; Tsoi, Chung Ting; Dickson, Megan A; Yuki, Kyoko E; Hou, Huayun; Scholten, Sydney; Pulsifer, Kenzie; Acker, Meryl; Laver, Meredith; Murthy, Harsha; Moran, Olivia M; Bonnell, Emily; Liang, Nicole; Sidhu, Jashanpreet; Dupuis, Lucie; Seno, Mohammad M Ghahramani; Chard, Marisa; Jobling, Rebekah K; Cameron, Jessie; Chami, Rose; Inbar-Feigenberg, Michal; Wilson, Michael D; Chitayat, David A; Boycott, Kym M; Kyriakopoulou, Lianna; Mendoza-Londono, Roberto; Marshall, Christian R; Dowling, James J; Costain, Gregory; Deshwar, Ashish R