Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
American Journal Of Human Genetics
Gonorazky, Hernan D HD; Naumenko, Sergey S; Ramani, Arun K AK; Nelakuditi, Viswateja V; Mashouri, Pouria P; Wang, Peiqui P; Kao, Dennis D; Ohri, Krish K; Viththiyapaskaran, Senthuri S; Tarnopolsky, Mark A MA; Mathews, Katherine D KD; Moore, Steven A SA; Osorio, Andres N AN; Villanova, David D; Kemaladewi, Dwi U DU; Cohn, Ronald D RD; Brudno, Michael M; Dowling, James J JJ