Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Salem Alwadaee, Mustafa A. Salih et al.|Acta Neuropathologica|2019Cited by 71
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disordersJordy Dekker, Tjakko J. van Ham, Esmee Kasteleijn et al.|The American Journal of Human Genetics|2023Cited by 60