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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study; Zhang F, Wu Z, Lupski JR, Wu N. Liu J, et al. Among authors: yang xz. Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17. Hum Genet. 2018. PMID: 30019117 Free PMC article.
Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family.
Ding X, Zhao S, Zhang Q, Yan Z, Wang Y, Wu Y, Li X, Liu J, Niu Y, Zhang Y, Zhang M, Wang H, Zhang Y, Chen W, Yang XZ, Liu P, Posey JE, Lupski JR, Wu Z, Yang X, Wu N, Wang K. Ding X, et al. Among authors: yang xz, yang x. J Neurointerv Surg. 2020 Feb;12(2):221-226. doi: 10.1136/neurintsurg-2019-014900. Epub 2019 Aug 10. J Neurointerv Surg. 2020. PMID: 31401562 Free PMC article.
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
Lin M, Liu Z, Liu G, Zhao S, Li C, Chen W, Coban Akdemir Z, Lin J, Song X, Wang S, Xu Q, Zhao Y, Wang L, Zhang Y, Yan Z, Liu S, Liu J, Chen Y, Zuo Y, Yang X, Sun T, Yang XZ, Niu Y, Li X, You W, Qiu B, Ding C, Liu P, Zhang S, Carvalho CMB, Posey JE, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Lupski JR, Wu Z, Zhang J, Wu N. Lin M, et al. Among authors: yang xz, yang x. Mol Genet Genomic Med. 2020 Jan;8(1):e1023. doi: 10.1002/mgg3.1023. Epub 2019 Nov 27. Mol Genet Genomic Med. 2020. PMID: 31774634 Free PMC article.
Identification of novel FBN1 variations implicated in congenital scoliosis.
Lin M, Zhao S, Liu G, Huang Y, Yu C, Zhao Y, Wang L, Zhang Y, Yan Z, Wang S, Liu S, Liu J, Ye Y, Chen Y, Yang X, Tong B, Wang Z, Yang X, Niu Y, Li X, Wang Y, Su J, Yuan J, Zhao H, Zhang S, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Ikegawa S, Zhang J, Wu Z, Wu N. Lin M, et al. J Hum Genet. 2020 Mar;65(3):221-230. doi: 10.1038/s10038-019-0698-x. Epub 2019 Dec 11. J Hum Genet. 2020. PMID: 31827250 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.
RhesusBase: a knowledgebase for the monkey research community.
Zhang SJ, Liu CJ, Shi M, Kong L, Chen JY, Zhou WZ, Zhu X, Yu P, Wang J, Yang X, Hou N, Ye Z, Zhang R, Xiao R, Zhang X, Li CY. Zhang SJ, et al. Nucleic Acids Res. 2013 Jan;41(Database issue):D892-905. doi: 10.1093/nar/gks835. Epub 2012 Sep 10. Nucleic Acids Res. 2013. PMID: 22965133 Free PMC article.
RNA editome in rhesus macaque shaped by purifying selection.
Chen JY, Peng Z, Zhang R, Yang XZ, Tan BC, Fang H, Liu CJ, Shi M, Ye ZQ, Zhang YE, Deng M, Zhang X, Li CY. Chen JY, et al. Among authors: yang xz. PLoS Genet. 2014 Apr 10;10(4):e1004274. doi: 10.1371/journal.pgen.1004274. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24722121 Free PMC article.
353 results