Chen X - Search Results

1

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Gong M, Li J, Qin Z, Machado Bressan Wilke MV, Liu Y, Li Q, Liu H, Liang C, Morales-Rosado JA, Cohen ASA, Hughes SS, Sullivan BR, Waddell V, van den Boogaard MH, van Jaarsveld RH, van Binsbergen E, van Gassen KL, Wang T, Hiatt SM, Amaral MD, Kelley WV, Zhao J, Feng W, Ren C, Yu Y, Boczek NJ, Ferber MJ, Lahner C, Elliott S, Ruan Y, Mignot C, Keren B, Xie H, Wang X, Popp B, Zweier C, Piard J, Coubes C, Mau-Them FT, Safraou H, Innes AM, Gauthier J, Michaud JL, Koboldt DC, Sylvie O, Willems M, Tan WH, Cogne B, Rieubland C, Braun D, McLean SD, Platzer K, Zacher P, Oppermann H, Evenepoel L, Blanc P, El Khattabi L, Haque N, Dsouza NR, Zimmermann MT, Urrutia R, Klee EW, Shen Y, Du H, Rappaport L, Liu CM, Chen X. Gong M, et al. Among authors: chen x. Am J Hum Genet. 2024 Nov 7;111(11):2392-2410. doi: 10.1016/j.ajhg.2024.09.006. Epub 2024 Oct 16. Am J Hum Genet. 2024. PMID: 39419027 Free PMC article.

2

[Correlation of early neurodevelopmental features of children with SYNGAP1 variants and their genotypes].

Liu H, Yang S, Li J, Xie H, Chen X. Liu H, et al. Among authors: chen x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Jan 10;41(1):25-31. doi: 10.3760/cma.j.cn511374-20230214-00074. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38171555 Chinese.

3

Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.

Zhou W, Zhang F, Chen X, Shen Y, Lupski JR, Jin L. Zhou W, et al. Among authors: chen x. Hum Mol Genet. 2013 Jul 1;22(13):2642-51. doi: 10.1093/hmg/ddt113. Epub 2013 Mar 7. Hum Mol Genet. 2013. PMID: 23474816 Free PMC article.

4

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.

Shangguan S, Zhang X, Ge Y, Han Y, Xiao L, Zhang Y, Xie H, Chen X, Wang X. Shangguan S, et al. Among authors: chen x. Mol Genet Genomics. 2024 Aug 22;299(1):81. doi: 10.1007/s00438-024-02173-y. Mol Genet Genomics. 2024. PMID: 39172257 Free PMC article.

5

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.

Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF. Chen X, et al. Am J Hum Genet. 2013 Mar 7;92(3):375-86. doi: 10.1016/j.ajhg.2013.02.006. Am J Hum Genet. 2013. PMID: 23472757 Free PMC article.

6

Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.

Gao Z, Xie H, Jiang Q, Wu N, Chen X, Chen Q. Gao Z, et al. Among authors: chen q, chen x. BMC Med Genet. 2018 Feb 8;19(1):21. doi: 10.1186/s12881-018-0535-7. BMC Med Genet. 2018. PMID: 29422019 Free PMC article.

7

[Standards for the interpretation of constitutional copy number gain: Recommendation from the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen)].

Chen X, Shangguan S, Xie H, Liu H, Liu W, An Y, Shen Y. Chen X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):1-10. doi: 10.3760/cma.j.cn511374-20200220-00143. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 34964957 Chinese.

8

[The pathogenicity of somatic mutation to common tumors and developmental malformation of the nervous system].

Liu F, Song X, Xie H, Chen XL. Liu F, et al. Among authors: chen xl. Yi Chuan. 2016 Mar;38(3):196-205. doi: 10.16288/j.yczz.15-400. Yi Chuan. 2016. PMID: 27001474 Review. Chinese.

9

The pathogenicity of genomic/genetic variant of X-chromosomal genes in males with intellectual disability.

Peng JP, Liu F, Xie H, Chen XL. Peng JP, et al. Yi Chuan. 2017 Jun 20;39(6):455-468. doi: 10.16288/j.yczz.16-407. Yi Chuan. 2017. PMID: 28903905 Review.

10

[Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis].

Ge Y, Li J, Han Y, Xie H, Shangguan S, Jiang Q, Chen X, Liu R. Ge Y, et al. Among authors: chen x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Mar 10;40(3):269-275. doi: 10.3760/cma.j.cn511374-20221019-00698. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 36854399 Chinese.

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