Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

David R. Murdock, Hongzheng Dai, Lindsay C. Burrage, Jill A. Rosenfeld, Shamika Ketkar, Michaela F. Müller, Vicente A. Yépez, Julien Gagneur, Pengfei Liu, Shan Chen, Mahim Jain, Gladys Zapata, Carlos A. Bacino, Hsiao Tuan Chao, Paolo Moretti, William J. Craigen, Neil A. Hanchard, Brendan Lee