Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

JSON

Efthymiou S, Leo CP, Deng C, Zhang K, Lin SJ, Maroofian R, Kaiyrzhanov R, Lin R, Karagoz I, Scardamaglia A, Owrang D, Turchetti V, Jahnke F, Petree C, Derrick AV, Rees MI, Alvi JR, Sultan T, Li C, Jacquemont ML, Tran-Mau-Them F, Valenzuela-Palafoll M, Sidlow R, Yoon G, Morrow M, Carere A, O’Connor M, Fleischer J, Gerkes EH, Phornphutkul C, Isidor B, Rivier-Ringenbach C, Philippe C, Kurul SH, Soydemir D, Kara B, Sunnetci-Akkoyunlu D, Bothe V, Platzer K, Wieczorek D, Koch-Hogrebe M, Rahner N, Thuresson AC, Matsson H, Frykholm C, Bozdoğan ST, Bişgin A, Chatron N, Lesca G, Cabet S, Tümer Z, Hjortshøj TD, Rønde G, Marquardt T, Reunert J, Afzal E, Zamani M, Azizimalamiri R, Galehdari H, Nourbakhshd P, Chamanrou N, Chung SK, Suri M, Benke PJ, Zaki MS, Gleeson JG, Calame DG, Pehlivan D, Yilmaz HI, Gezdirici A, Rad A, Abumansour IS, Oprea G, Sidpra J, Mankad K, Vona B, Fry AE, Varshney GK, Houlden H, Fu D

- - (-) - [2024-07-22; online 2024-07-22]

DOI 10.1101/2024.07.18.24310581

Crossref 10.1101/2024.07.18.24310581