1. Aminoacylation‐defective bi‐allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness. Issue 3 (1st December 2022) Authors: Jin, Danni; Wek, Sheree A.; Cordova, Ricardo A.; Wek, Ronald C.; Lacombe, Didier; Michaud, Vincent; Musier‐Forsyth, Karin Journal: Clinical genetics Issue: Volume 103:Issue 3(2023) Page Start: 358 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗