A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics. - Boschann F; Kopp J; Römer S; Küchler O; Lyubenova H; von Kügelgen N; Hertstein E; Hagelstein L; Becker C; Becker K; Brachs S; Mai K; et al. (NPJ genomic medicine, 2026)