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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: li p. 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.
Amniotes co-opt intrinsic genetic instability to protect germ-line genome integrity.
Sun YH, Cui H, Song C, Shen JT, Zhuo X, Wang RH, Yu X, Ndamba R, Mu Q, Gu H, Wang D, Murthy GG, Li P, Liang F, Liu L, Tao Q, Wang Y, Orlowski S, Xu Q, Zhou H, Jagne J, Gokcumen O, Anthony N, Zhao X, Li XZ. Sun YH, et al. Among authors: li xz, li p. Nat Commun. 2023 Feb 13;14(1):812. doi: 10.1038/s41467-023-36354-x. Nat Commun. 2023. PMID: 36781861 Free PMC article.
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.
Yang X, Zhang D, Shen S, Li P, Li M, Niu J, Ma D, Xu D, Li S, Guo X, Wang Z, Zhao Y, Ren H, Ling C, Wang Y, Fan Y, Shen J, Zhu Y, Wang D, Cui L, Chen L, Shi C, Dai Y. Yang X, et al. Among authors: li s, li m, li p. BMC Med Genomics. 2023 Oct 20;16(1):253. doi: 10.1186/s12920-023-01586-9. BMC Med Genomics. 2023. PMID: 37864208 Free PMC article.
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: li p. 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.
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Yu J, Deng J, Guo X, Shan J, 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, Zhou B, Li P, Liu Y, Wang Y, Yan C, Hong D, Yuan Y, Wang Z. Yu J, et al. Among authors: li p. Brain. 2021 Jul 28;144(6):1819-1832. doi: 10.1093/brain/awab077. Brain. 2021. PMID: 33693509 Free PMC article.
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