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Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.
Taylor AS, Barros D, Gobet N, Schuepbach T, McAllister B, Aeschbach L, Randall EL, Trofimenko E, Heuchan ER, Barszcz P, Ciosi M, Morgan J, Hafford-Tear NJ, Davidson AE, Massey TH, Monckton DG, Jones L, Network RIOTEHD, Xenarios I, Dion V. Taylor AS, et al. Among authors: ciosi m. NAR Genom Bioinform. 2022 Dec 5;4(4):lqac089. doi: 10.1093/nargab/lqac089. eCollection 2022 Dec. NAR Genom Bioinform. 2022. PMID: 36478959 Free PMC article.
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes.
Ciosi M, Maxwell A, Cumming SA, Hensman Moss DJ, Alshammari AM, Flower MD, Durr A, Leavitt BR, Roos RAC; TRACK-HD team; Enroll-HD team; Holmans P, Jones L, Langbehn DR, Kwak S, Tabrizi SJ, Monckton DG. Ciosi M, et al. EBioMedicine. 2019 Oct;48:568-580. doi: 10.1016/j.ebiom.2019.09.020. Epub 2019 Oct 10. EBioMedicine. 2019. PMID: 31607598 Free PMC article.
Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.
Ellis N, Tee A, McAllister B, Massey T, McLauchlan D, Stone T, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Elneel KA, Ramos EM, Mysore JS, Gillis T, Wheeler VC, Medway C, Hall L, Kwak S, Sampaio C, Ciosi M, Maxwell A, Chatzi A, Monckton DG, Orth M, Landwehrmeyer GB, Paulsen JS, Shoulson I, Myers RH, van Duijn E, Rickards H, MacDonald ME, Lee JM, Gusella JF, Jones L, Holmans P. Ellis N, et al. Among authors: ciosi m. Biol Psychiatry. 2020 May 1;87(9):857-865. doi: 10.1016/j.biopsych.2019.12.010. Epub 2019 Dec 17. Biol Psychiatry. 2020. PMID: 32087949 Free PMC article.
24 results