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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. Nat Genet. 2024. PMID: 38937606 Free PMC article.
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity.
Danzi MC, Xu IRL, Fazal S, Dolzhenko E, Pellerin D, Weisburd B, Reuter C, Sampson J, Folland C, Wheeler M, O'Donnell-Luria A, Wuchty S, Ravenscroft G, Eberle MA; All of Us Research Program Long Read Working Group; Zuchner S. Danzi MC, et al. bioRxiv [Preprint]. 2025 Jan 20:2025.01.06.631535. doi: 10.1101/2025.01.06.631535. bioRxiv. 2025. PMID: 39868092 Free PMC article. Preprint.