A Combined RNA-Seq and Whole Genome Sequencing Approach for Identification of Non-Coding Pathogenic Variants in Single Families. Hum Mol Genet.
Bronstein R, Capowski EE, Mehrotra S, Jansen AD, Navarro-Gomez D, Maher M, Place E, Sangermano R, Bujakowska KM, Gamm DM, Pierce EA.