De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

TitleDe Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Publication TypeJournal Article
AuthorsLessel, D, Schob, C, Küry, S, Reijnders, MRF, Harel, T, Eldomery, MK, Coban-Akdemir, Z, Denecke, J, Edvardson, S, Colin, E, Stegmann, APA, Gerkes, EH, Tessarech, M, Bonneau, D, Barth, M, Besnard, T, Cogné, B, Revah-Politi, A, Strom, TM, Rosenfeld, JA, Yang, Y, Posey, JE, Immken, LD, Oundjian, N, Helbig, KL, Meeks, N, Zegar, K, Morton, J, Schieving, JH, Claasen, A, Huentelman, M, Narayanan, V, Ramsey, K, Brunner, HG, Elpeleg, O, Mercier, S, Bézieau, S, Kubisch, C, Kleefstra, T, Kindler, S, Lupski, JR, Kreienkamp, H-J
Corporate AuthorsDDD study, C4RCD Research Group
PubMed ID29100085
PubMed Central IDPMC5673606
Grant ListK08 HG008986 / HG / NHGRI NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States