Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. - Efthymiou S; Leo CP; Deng C; Lin SJ; Maroofian R; Lin R; Karagoz I; Zhang K; Kaiyrzhanov R; Scardamaglia A; Owrang D; Turchetti V; et al. (American journal of human genetics, 2025)