Kay C - Search Results

1

Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease.

Findlay Black H, Kay C, Dawson J, Bortnick S, Javier K, Xia Q, Chau CH, Leavitt T, Arning L, Nguyen HP, Hayden MR. Findlay Black H, et al. Among authors: kay c. Genet Med Open. 2024 Aug 2;2:101882. doi: 10.1016/j.gimo.2024.101882. eCollection 2024. Genet Med Open. 2024. PMID: 39669608 Free PMC article.

2

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range.

Findlay Black H, Wright GEB, Collins JA, Caron N, Kay C, Xia Q, Arning L, Bijlsma EK, Squitieri F, Nguyen HP, Hayden MR. Findlay Black H, et al. Among authors: kay c. Genet Med. 2020 Dec;22(12):2108-2113. doi: 10.1038/s41436-020-0917-z. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741964 Free PMC article.

3

The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort.

Dawson J, Kay C, Black HF, Bortnick S, Javier K, Xia Q, Sandhu A, Buchanan C, Hogg V, Chang FCF, Goto J, Arning L, Saft C, Bijlsma EK, Nguyen HP, Roxburgh R, Hayden MR. Dawson J, et al. Among authors: kay c. Genet Med. 2024 Nov;26(11):101239. doi: 10.1016/j.gim.2024.101239. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140258 Free article.

4

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease.

Semaka A, Kay C, Doty C, Collins JA, Bijlsma EK, Richards F, Goldberg YP, Hayden MR. Semaka A, et al. Among authors: kay c. J Med Genet. 2013 Oct;50(10):696-703. doi: 10.1136/jmedgenet-2013-101796. Epub 2013 Jul 29. J Med Genet. 2013. PMID: 23896435

5

Personalized gene silencing therapeutics for Huntington disease.

Kay C, Skotte NH, Southwell AL, Hayden MR. Kay C, et al. Clin Genet. 2014 Jul;86(1):29-36. doi: 10.1111/cge.12385. Epub 2014 Apr 11. Clin Genet. 2014. PMID: 24646433 Review.

6

Author response: Huntington disease reduced penetrance alleles occur at high frequency in the general population.

Hayden MR, Kay C. Hayden MR, et al. Among authors: kay c. Neurology. 2017 Jan 17;88(3):334-335. doi: 10.1212/WNL.0000000000003528. Neurology. 2017. PMID: 28093515 No abstract available.

7

Epidemiology of Huntington disease.

Kay C, Hayden MR, Leavitt BR. Kay C, et al. Handb Clin Neurol. 2017;144:31-46. doi: 10.1016/B978-0-12-801893-4.00003-1. Handb Clin Neurol. 2017. PMID: 28947124 Review.

8

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: kay c. 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.

9

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. 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.

10

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes.

Baine FK, Kay C, Ketelaar ME, Collins JA, Semaka A, Doty CN, Krause A, Greenberg LJ, Hayden MR. Baine FK, et al. Among authors: kay c. Eur J Hum Genet. 2013 Oct;21(10):1120-7. doi: 10.1038/ejhg.2013.2. Epub 2013 Mar 6. Eur J Hum Genet. 2013. PMID: 23463025 Free PMC article.

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