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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: jones l. 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.
CAG Repeat Not Polyglutamine Length Determines Timing of Huntington's Disease Onset.
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium. Electronic address: gusella@helix.mgh.harvard.edu; Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium. Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium. Electronic address: gusella@helix.mgh.harvard.edu, et al. Cell. 2019 Aug 8;178(4):887-900.e14. doi: 10.1016/j.cell.2019.06.036. Cell. 2019. PMID: 31398342 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. Among authors: jones l. 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: jones l. 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.
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
Kim KH, Hong EP, Shin JW, Chao MJ, Loupe J, Gillis T, Mysore JS, Holmans P, Jones L, Orth M, Monckton DG, Long JD, Kwak S, Lee R, Gusella JF, MacDonald ME, Lee JM. Kim KH, et al. Among authors: jones l. Am J Hum Genet. 2020 Jul 2;107(1):96-110. doi: 10.1016/j.ajhg.2020.05.012. Epub 2020 Jun 25. Am J Hum Genet. 2020. PMID: 32589923 Free PMC article.
8,378 results