Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
转录组测序在罕见孟德尔疾病诊断中的应用
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-019-0672-1
Lee, Hane; Huang, Alden Y; Wang, Lee-Kai; Yoon, Amanda J; Renteria, Genecee; Eskin, Ascia; Signer, Rebecca H; Dorrani, Naghmeh; Nieves-Rodriguez, Shirley; Wan, Jijun; Douine, Emilie D; Woods, Jeremy D; Dell'Angelica, Esteban C; Fogel, Brent L; Martin, Martin G; Butte, Manish J; Parker, Neil H; Wang, Richard T; Shieh, Perry B; Wong, Derek A; Gallant, Natalie; Singh, Kathryn E; Tavyev Asher, Y Jane; Sinsheimer, Janet S; Krakow, Deborah; Loo, Sandra K; Allard, Patrick; Papp, Jeanette C; Palmer, Christina G S; Martinez-Agosto, Julian A; Nelson, Stanley F