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TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado MR, Posey JE, Qiu G, Rios JJ, Liu P, Wise CA, Zhang F, Wu Z, Lupski JR, Wu N. Chen W, et al. Among authors: yang x, yang y. Hum Mutat. 2020 Jan;41(1):182-195. doi: 10.1002/humu.23907. Epub 2019 Sep 26. Hum Mutat. 2020. PMID: 31471994 Free PMC article.
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N, Zhang Z, Zhou X, Zhao H, Ming Y, Wu X, Zhang X, Yang XZ, Zhou M, Bao H, Chen W, Wu Y, Liu S, Wang H, Niu Y, Li Y, Zheng Y, Shao Y, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Li M, Sun Y, Su J, Zhang J, Xia W, Qiu G, Liu Y, Liu J, Wu Z. Wu N, et al. Among authors: yang xz, yang x, yang y. J Cell Mol Med. 2020 May;24(9):4931-4943. doi: 10.1111/jcmm.14991. Epub 2020 Apr 11. J Cell Mol Med. 2020. PMID: 32277576 Free PMC article.
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Fry AE, Marra C, Derrick AV, Pickrell WO, Higgins AT, Te Water Naude J, McClatchey MA, Davies SJ, Metcalfe KA, Tan HJ, Mohanraj R, Avula S, Williams D, Brady LI, Mesterman R, Tarnopolsky MA, Zhang Y, Yang Y, Wang X; Genomics England Research Consortium; Rees MI, Goldfarb M, Chung SK. Fry AE, et al. Among authors: yang y. Am J Hum Genet. 2021 Jan 7;108(1):176-185. doi: 10.1016/j.ajhg.2020.10.017. Epub 2020 Nov 26. Am J Hum Genet. 2021. PMID: 33245860 Free PMC article.
A new personalized vaccine strategy based on inducing the pyroptosis of tumor cells in vivo by transgenic expression of a truncated GSDMD N-terminus.
He J, Zheng P, Chen Y, Qi J, Ye C, Li D, Yang Y, Yang Y, Liu Q, Hu Y, Zheng X, Li W, Hua L, Yang Z, Chen H, Huang W, Sun W, Yang X, Long Q, Bai H, Ma Y. He J, et al. Among authors: yang x, yang y, yang z. Front Immunol. 2022 Sep 15;13:991857. doi: 10.3389/fimmu.2022.991857. eCollection 2022. Front Immunol. 2022. PMID: 36189310 Free PMC article.
DYNC1H1-related epilepsy: Genotype-phenotype correlation.
Liu W, Cheng M, Zhu Y, Chen Y, Yang Y, Chen H, Niu X, Tian X, Yang X, Zhang Y. Liu W, et al. Among authors: yang x, yang y. Dev Med Child Neurol. 2023 Apr;65(4):534-543. doi: 10.1111/dmcn.15414. Epub 2022 Sep 29. Dev Med Child Neurol. 2023. PMID: 36175372 Free article.
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