Almousa H, Lewis S, Bakhtiari S, Nordlie S, Pagnozzi A, Magee H, Efthymiou S, Heim J, Cornejo P, Zaki M, Anwar N, Maqbool S, Rahman F, Neilson D, Vemuri A, Jin S, Yang X, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel A, Tomoum H, Shata M, Hashem M, Toosi M, Karimiani E, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent J, Innes A, Dursun A, Özgül R, Akar H, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat L, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer M. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. Brain 2023, 147: 311-324. PMID: 37713627, PMCID: PMC10766242, DOI: 10.1093/brain/awad301.Peer-Reviewed Original Research