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Structural Variants May Be a Source of Missing Heritability in sALS.
Theunissen F, Flynn LL, Anderton RS, Mastaglia F, Pytte J, Jiang L, Hodgetts S, Burns DK, Saunders A, Fletcher S, Wilton SD, Akkari PA. Theunissen F, et al. Among authors: pytte j. Front Neurosci. 2020 Jan 31;14:47. doi: 10.3389/fnins.2020.00047. eCollection 2020. Front Neurosci. 2020. PMID: 32082115 Free PMC article.
Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort.
Pytte J, Flynn LL, Anderton RS, Mastaglia FL, Theunissen F, James I, Pfaff A, Koks S, Saunders AM, Bedlack R, Burns DK, Lutz MW, Siddique N, Siddique T, Roses AD, Akkari PA. Pytte J, et al. Neurol Genet. 2020 Jul 1;6(4):e470. doi: 10.1212/NXG.0000000000000470. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32754644 Free PMC article.