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Gonorazky, Hernan D; Naumenko, Sergey; Ramani, Arun K; Nelakuditi, Viswateja; Mashouri, Pouria; Wang, Peiqui; Kao, Dennis; Ohri, Krish; Viththiyapaskaran, Senthuri; Tarnopolsky, Mark A; Mathews, Katherine D; Moore, Steven A; Osorio, Andres N; Villanova, David; Kemaladewi, Dwi U; Cohn, Ronald D; Brudno, Michael; Dowling, James J

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease Journal Article

In: The American Journal of Human Genetics, vol. 104, no. 3, pp. 466–483, 2019, ISSN: 0002-9297, 1537-6605, (Publisher: Elsevier).

Links | BibTeX | Tags: diagnostics, Mendelian disease, muscular dystrophy, myotubes, RNA-seq, Transcriptomics, transdifferentiation