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Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z. Deng J, et al. Among authors: liang f, liang y. Am J Hum Genet. 2020 Jun 4;106(6):793-804. doi: 10.1016/j.ajhg.2020.04.011. Epub 2020 May 14. Am J Hum Genet. 2020. PMID: 32413282 Free PMC article.
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
Tian Y, Wang JL, Huang W, Zeng S, Jiao B, Liu Z, Chen Z, Li Y, Wang Y, Min HX, Wang XJ, You Y, Zhang RX, Chen XY, Yi F, Zhou YF, Long HY, Zhou CJ, Hou X, Wang JP, Xie B, Liang F, Yang ZY, Sun QY, Allen EG, Shafik AM, Kong HE, Guo JF, Yan XX, Hu ZM, Xia K, Jiang H, Xu HW, Duan RH, Jin P, Tang BS, Shen L. Tian Y, et al. Among authors: liang f. Am J Hum Genet. 2019 Jul 3;105(1):166-176. doi: 10.1016/j.ajhg.2019.05.013. Epub 2019 Jun 6. Am J Hum Genet. 2019. PMID: 31178126 Free PMC article.
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.
Sun QY, Xu Q, Tian Y, Hu ZM, Qin LX, Yang JX, Huang W, Xue J, Li JC, Zeng S, Wang Y, Min HX, Chen XY, Wang JP, Xie B, Liang F, Zhang HN, Wang CY, Lei LF, Yan XX, Xu HW, Duan RH, Xia K, Liu JY, Jiang H, Shen L, Guo JF, Tang BS. Sun QY, et al. Among authors: liang f. Brain. 2020 Jan 1;143(1):222-233. doi: 10.1093/brain/awz372. Brain. 2020. PMID: 31819945
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline.
Geng C, Zhang C, Li P, Tong Y, Zhu B, He J, Zhao Y, Yao F, Cui LY, Liang F, Wang Y, Wang Y, Jin H, Lang D, Liu S, Wang D, Park MS, Chen L, Peng J, Dai Y. Geng C, et al. Among authors: liang f. Eur J Hum Genet. 2023 May;31(5):504-511. doi: 10.1038/s41431-022-01190-y. Epub 2022 Oct 5. Eur J Hum Genet. 2023. PMID: 36198806 Free PMC article.
Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang K, Xia K, Tang BS. Zeng S, et al. Among authors: liang f. J Med Genet. 2019 Apr;56(4):265-270. doi: 10.1136/jmedgenet-2018-105484. Epub 2018 Sep 7. J Med Genet. 2019. PMID: 30194086
3,753 results