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ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10.
Morato Torres CA, Zafar F, Tsai YC, Vazquez JP, Gallagher MD, McLaughlin I, Hong K, Lai J, Lee J, Chirino-Perez A, Romero-Molina AO, Torres F, Fernandez-Ruiz J, Ashizawa T, Ziegle J, Jiménez Gil FJ, Schüle B. Morato Torres CA, et al. Among authors: hong k. HGG Adv. 2022 Aug 15;3(4):100137. doi: 10.1016/j.xhgg.2022.100137. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 36092952 Free PMC article.
Detection of mosaic and population-level structural variants with Sniffles2.
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ. Smolka M, et al. Among authors: hong k. Nat Biotechnol. 2024 Oct;42(10):1571-1580. doi: 10.1038/s41587-023-02024-y. Epub 2024 Jan 2. Nat Biotechnol. 2024. PMID: 38168980 Free PMC article.
Unbiased optical mapping of telomere-integrated endogenous human herpesvirus 6.
Wight DJ, Aimola G, Aswad A, Jill Lai CY, Bahamon C, Hong K, Hill JA, Kaufer BB. Wight DJ, et al. Among authors: hong k. Proc Natl Acad Sci U S A. 2020 Dec 8;117(49):31410-31416. doi: 10.1073/pnas.2011872117. Epub 2020 Nov 23. Proc Natl Acad Sci U S A. 2020. PMID: 33229517 Free PMC article.
4,823 results