Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Authors: Hane Lee, Alden Huang, Lee-kai Wang, Amanda J. Yoon, Genecee Renteria, Ascia Eskin, Rebecca Signer, Naghmeh Dorrani, Shirley Nieves‐Rodriguez, Jijun Wan, Emilie D. Douine, Jeremy D. Woods, Esteban C. Dell’Angelica, Brent L. Fogel, Martín G. Martín, Manish J. Butte, Neil H. Parker, Richard T. Wang, Perry B. Shieh, Derek A. Wong, Natalie M. Gallant, Kathryn Singh, Yael Asher, Janet S. Sinsheimer, Deborah Krakow, Sandra K. Loo, Patrick Allard, Jeanette C. Papp, Christina G.S. Palmer, Julián A. Martínez-Agosto, Stanley F. Nelson - Genetics in Medicine 2019 cited by 221