Journal article
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
Authors
Gonorazky HD; Naumenko S; Ramani AK; Nelakuditi V; Mashouri P; Wang P; Kao D; Ohri K; Viththiyapaskaran S; Tarnopolsky MA
Journal
American Journal of Human Genetics, Vol. 104, No. 5,
Publisher
Elsevier
Publication Date
May 2, 2019
DOI
10.1016/j.ajhg.2019.04.004
ISSN
0002-9297