Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Cummings, BB; Marshall, JL; Tukiainen, T; Lek, M; Donkervoort, S; Foley, AR; Bolduc, V; Cummings, BB; Marshall, JL; Tukiainen, T; Lek, M; Donkervoort, S; Foley, AR; Bolduc, V; Waddell, LB; Sandaradura, SA; O'Grady, GL; Estrella, E; Reddy, HM; Zhao, F; Weisburd, B; Karczewski, KJ; O'Donnell-Luria, AH; Birnbaum, D; Sarkozy, A; Hu, Y; Gonorazky, H; Claeys, K; Joshi, H; Bournazos, A; Oates, EC; Ghaoui, R; Davis, MR; Laing, NG; Topf, A; Kang, PB; Beggs, AH; North, KN; Straub, V; Dowling, JJ; Muntoni, F; Clarke, NF; Cooper, ST; Bonnemann, CG; MacArthur, DG; - view fewer (2017) Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. SCIENCE TRANSLATIONAL MEDICINE , 9 (386) 10.1126/scitranslmed.aa15209 .

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