Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.
Hop PJ, Kooyman M, Kenna BJ, Zwamborn RAJ, van Eijk KR, Wang Y, van Dijk CH, Bekema E, van Rheenen W, Beele P, van Vugt JJFA; Project MinE ALS sequencing Consortium; NYGC ALS Consortium; FALS sequencing Consortium; GTAC Consortium; Khleifat AA, Iacoangeli A, Cooper-Knock J, Smith BN, Topp S, van der Kooi AJ, Fominykh V, Drory V, Lerner Y, Shovman Y, Rowe DB, Williams KL, McLaughlin RL, Hurt J, Huang Y, Chen CY, Tsai E, Runz H, Aronica E, Groen EJN, van Es MA, Pasterkamp RJ, Farhan SMK, Garton FC, McRae AF, McCombe PA, Henderson RD, Fan D, Šlachtová L, Høyer H, Nishimura AL, Cauchi RJ, Brylev L, Rogelj B, Koritnik B, Zidar J, Salas T, Mora Pardina JS, Gotkine M, Povedano M, Corcia P, Vourc'h P, Couratier P, Weber M, Kiernan MC, Pamphlett R, Blair IP, de Carvalho M, Başak NA, Ingre C, Andersen PM, Zinman L, Rogaeva E, MacKenzie IR, Dupre N, Rouleau GA, Traynor BJ, Ticozzi N, Chiò A, Silani V, Hardiman O, Phatnani H, Harms MB, Dalgard CL, Glass JD, Landers JE, Van Damme P, Morrison KE, Shaw PJ, Shaw CE, Al-Chalabi A, van den Berg LH, Kenna KP, Veldink JH.
Hop PJ, et al.
Nat Genet. 2026 Mar 31. doi: 10.1038/s41588-026-02535-9. Online ahead of print.
Nat Genet. 2026.
PMID: 41917433