Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Calame, DG; Guo, TY; Wang, C; Garrett, L; Jolly, A; Dawood, M; Kurolap, A; Henig, NZ; Fatih, JM; Herman, I; Du, HW; Mitani, T; Becker, L; Rathkolb, B; Gerlini, R; Seisenberger, C; Marschall, S; Hunter, J; Gerard, A; Heidlebaugh, A; Challman, T; Spillmann, RC; Jhangiani, SN; Coban-Akdemir, Z; Lalani, S; Liu, LX; Revah-Politi, A; Iglesias, A; Guzman, E; Baugh, E; Boddaert, N; Rondeau, S; Ormieres, C; Barcia, G; Tan, QKG; Thiffault, SI; Pastinen, T; Sheikh, K; Biliciler, S; Mei, D; Melani, F; Shashi, V; Yaron, Y; Steele, M; Wakeling, E; Ostergaard, E; Millan, F; Santiago-Sim, T; Thevenon, J; Bruel, AL; Thauvin-Robinet, C; Popp, D; Platzer, K; Gawlinski, P; Wiszniewski, W; Marafi, D; Pehlivan, D; Posey, JE; Gibbs, RA; Gailus-Durner, V; Guerrini, R; Fuchs, H; de Angelis, MH; Hölter, SM; Cheung, HH; Gu, S; Lupski, JR

Calame, DG (通讯作者),Baylor Coll Med, Dept Pediat, Sect Pediat Neurol & Dev Neurosci, Houston, TX 77030 USA.;Calame, DG; Lupski, JR (通讯作者),Texas Childrens Hosp, Houston, TX 77030 USA.;Calame, DG; Lupski, JR (通讯作者),Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.;Gu, S (通讯作者),Chinese Univ Hong Kong, Fac Med, Sch Biomed Sci, Hong Kong, Peoples R China.;Lupski, JR (通讯作者),Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA.;Gu, S (通讯作者),Chinese Univ Hong Kong, Fac Med, Sch Biomed Sci, Key Lab Regenerat Med,Minist Educ, Hong Kong, Peoples R China.;Gu, S (通讯作者),Chinese Acad Sci, Chinese Univ Hong Kong Joint Lab Bioresources & M, Kunming Inst Zool, Hong Kong, Peoples R China.;Lupski, JR (通讯作者),Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA.

AMERICAN JOURNAL OF HUMAN GENETICS, 2023; 110 (8): 1394

Abstract

DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in a subset of these human helicase genes, path-ogenic variation cau......

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