Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
利用转录组测序改进孟德尔遗传病的基因诊断
期刊:Science Translational Medicine
影响因子:14.6
doi:10.1126/scitranslmed.aal5209
Cummings, Beryl B; Marshall, Jamie L; Tukiainen, Taru; Lek, Monkol; Donkervoort, Sandra; Foley, A Reghan; Bolduc, Veronique; Waddell, Leigh B; Sandaradura, Sarah A; O'Grady, Gina L; Estrella, Elicia; Reddy, Hemakumar M; Zhao, Fengmei; Weisburd, Ben; Karczewski, Konrad J; O'Donnell-Luria, Anne H; Birnbaum, Daniel; Sarkozy, Anna; Hu, Ying; Gonorazky, Hernan; Claeys, Kristl; Joshi, Himanshu; Bournazos, Adam; Oates, Emily C; Ghaoui, Roula; Davis, Mark R; Laing, Nigel G; Topf, Ana; Kang, Peter B; Beggs, Alan H; North, Kathryn N; Straub, Volker; Dowling, James J; Muntoni, Francesco; Clarke, Nigel F; Cooper, Sandra T; Bönnemann, Carsten G; MacArthur, Daniel G