Genome sequencing reveals the impact of pseudoexons in rare genetic disease
Georgia Pitsava, Megan H. Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos, Miguel Almalvez, Ingrid Chen, Kaylee Scozzaro, Jianhua Zhao, Rebekah Barrick, Nicholas Ah Mew, Vincent A. Fusaro, Jonathan E. LoTempio, Matthew R.G. Taylor, , Eric J. N. Vilain
Genome sequencing identifies pseudoexons as a common cause of Mendelian disease, with some variants missed by prior exome testing.
Genetics in Medicine · Sep 6, 2025Peer-reviewedGenetic & Genomic Medicine