Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.
Mamiko YamadaYuichi ShiraishiTomoko UeharaHisato SuzukiToshiki TakenouchiChihiro Abe-HatanoKenji KurosawaKenjiro KosakiPublished in: Molecular genetics & genomic medicine (2020)
The successful molecular diagnosis of the presently reported patient illustrates the diagnostic utility of the SAVNet analysis as an innovative way of implementing an integrated exome-transcriptome analysis in clinical settings.