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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: kwak s. 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.
High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.
Ament SA, Pearl JR, Grindeland A, St Claire J, Earls JC, Kovalenko M, Gillis T, Mysore J, Gusella JF, Lee JM, Kwak S, Howland D, Lee MY, Baxter D, Scherler K, Wang K, Geman D, Carroll JB, MacDonald ME, Carlson G, Wheeler VC, Price ND, Hood LE. Ament SA, et al. Among authors: kwak s. Hum Mol Genet. 2017 Mar 1;26(5):913-922. doi: 10.1093/hmg/ddx006. Hum Mol Genet. 2017. PMID: 28334820 Free PMC article.
Haplotype-based stratification of Huntington's disease.
Chao MJ, Gillis T, Atwal RS, Mysore JS, Arjomand J, Harold D, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Chao MJ, et al. Among authors: kwak s. Eur J Hum Genet. 2017 Nov;25(11):1202-1209. doi: 10.1038/ejhg.2017.125. Epub 2017 Aug 23. Eur J Hum Genet. 2017. PMID: 28832564 Free PMC article.
A modifier of Huntington's disease onset at the MLH1 locus.
Lee JM, Chao MJ, Harold D, Abu Elneel K, Gillis T, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF. Lee JM, et al. Among authors: kwak s. Hum Mol Genet. 2017 Oct 1;26(19):3859-3867. doi: 10.1093/hmg/ddx286. Hum Mol Genet. 2017. PMID: 28934397 Free PMC article.
MicroRNA signatures of endogenous Huntingtin CAG repeat expansion in mice.
Langfelder P, Gao F, Wang N, Howland D, Kwak S, Vogt TF, Aaronson JS, Rosinski J, Coppola G, Horvath S, Yang XW. Langfelder P, et al. Among authors: kwak s. PLoS One. 2018 Jan 11;13(1):e0190550. doi: 10.1371/journal.pone.0190550. eCollection 2018. PLoS One. 2018. PMID: 29324753 Free PMC article.
Population-specific genetic modification of Huntington's disease in Venezuela.
Chao MJ, Kim KH, Shin JW, Lucente D, Wheeler VC, Li H, Roach JC, Hood L, Wexler NS, Jardim LB, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM. Chao MJ, et al. Among authors: kwak s. PLoS Genet. 2018 May 11;14(5):e1007274. doi: 10.1371/journal.pgen.1007274. eCollection 2018 May. PLoS Genet. 2018. PMID: 29750799 Free PMC article.
2,023 results