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The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population.
Kay C, Collins JA, Wright GEB, Baine F, Miedzybrodzka Z, Aminkeng F, Semaka AJ, McDonald C, Davidson M, Madore SJ, Gordon ES, Gerry NP, Cornejo-Olivas M, Squitieri F, Tishkoff S, Greenberg JL, Krause A, Hayden MR. Kay C, et al. Among authors: collins ja. Am J Med Genet B Neuropsychiatr Genet. 2018 Apr;177(3):346-357. doi: 10.1002/ajmg.b.32618. Epub 2018 Feb 20. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29460498
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
Wright GEB, Collins JA, Kay C, McDonald C, Dolzhenko E, Xia Q, Bečanović K, Drögemöller BI, Semaka A, Nguyen CM, Trost B, Richards F, Bijlsma EK, Squitieri F, Ross CJD, Scherer SW, Eberle MA, Yuen RKC, Hayden MR. Wright GEB, et al. Among authors: collins ja. Am J Hum Genet. 2019 Jun 6;104(6):1116-1126. doi: 10.1016/j.ajhg.2019.04.007. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104771 Free PMC article.
A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.
Kay C, Collins JA, Caron NS, Agostinho LA, Findlay-Black H, Casal L, Sumathipala D, Dissanayake VHW, Cornejo-Olivas M, Baine F, Krause A, Greenberg JL, Paiva CLA, Squitieri F, Hayden MR. Kay C, et al. Among authors: collins ja. Am J Hum Genet. 2019 Dec 5;105(6):1112-1125. doi: 10.1016/j.ajhg.2019.10.011. Epub 2019 Nov 7. Am J Hum Genet. 2019. PMID: 31708117 Free PMC article.
A fully humanized transgenic mouse model of Huntington disease.
Southwell AL, Warby SC, Carroll JB, Doty CN, Skotte NH, Zhang W, Villanueva EB, Kovalik V, Xie Y, Pouladi MA, Collins JA, Yang XW, Franciosi S, Hayden MR. Southwell AL, et al. Among authors: collins ja. Hum Mol Genet. 2013 Jan 1;22(1):18-34. doi: 10.1093/hmg/dds397. Epub 2012 Sep 21. Hum Mol Genet. 2013. PMID: 23001568 Free PMC article.
387 results