Chen X - Search Results

1

CNV profiles of Chinese pediatric patients with developmental disorders.

Yuan H, Shangguan S, Li Z, Luo J, Su J, Yao R, Zhang S, Liang C, Chen Q, Gao Z, Zhu Y, Zhang S, Li W, Lu W, Zhang Y, Xie H, Liu F, Wang Q, Lin Y, Liu L, Wang X, Liang L, Zhong J, Li H, Qiu H, Zhang H, Yan M, Mireguli M, Liu Y, Zhang D, Wang H, Lv H, Xie B, Gui C, Cui X, Zou L, Wang J, Gusella JF, Shen Y, Chen X. Yuan H, et al. Among authors: chen q, chen x. Genet Med. 2021 Apr;23(4):669-678. doi: 10.1038/s41436-020-01048-y. Epub 2021 Jan 5. Genet Med. 2021. PMID: 33402738 Free article.

2

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.

Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL; Children's Hospital Boston Genotype Phenotype Study Group. Ching MS, et al. Among authors: chen x. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):937-47. doi: 10.1002/ajmg.b.31063. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20468056 Free PMC article.

3

Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.

Shen Y, Chen X, Wang L, Guo J, Shen J, An Y, Zhu H, Zhu Y, Xin R, Bao Y, Gusella JF, Zhang T, Wu BL. Shen Y, et al. Among authors: chen x. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):225-32. doi: 10.1002/ajmg.b.31147. Epub 2010 Dec 28. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21302351

4

Association study of PARD3 gene polymorphisms with neural tube defects in a Chinese Han population.

Gao Y, Chen X, Shangguan S, Bao Y, Lu X, Zou J, Guo J, Dai Y, Zhang T. Gao Y, et al. Among authors: chen x. Reprod Sci. 2012 Jul;19(7):764-71. doi: 10.1177/1933719111433886. Epub 2012 Mar 22. Reprod Sci. 2012. PMID: 22447895

5

Detection of copy number variants reveals association of cilia genes with neural tube defects.

Chen X, Shen Y, Gao Y, Zhao H, Sheng X, Zou J, Lip V, Xie H, Guo J, Shao H, Bao Y, Shen J, Niu B, Gusella JF, Wu BL, Zhang T. Chen X, et al. PLoS One. 2013;8(1):e54492. doi: 10.1371/journal.pone.0054492. Epub 2013 Jan 17. PLoS One. 2013. PMID: 23349908 Free PMC article.

6

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.

7

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.

8

A novel approach for copy number variation analysis by combining multiplex PCR with matrix-assisted laser desorption ionization time-of-flight mass spectrometry.

Gao Y, Chen X, Wang J, Shangguan S, Dai Y, Zhang T, Liu J. Gao Y, et al. Among authors: chen x. J Biotechnol. 2013 Jun 20;166(1-2):6-11. doi: 10.1016/j.jbiotec.2013.04.006. Epub 2013 May 1. J Biotechnol. 2013. PMID: 23643791

9

Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.

Chen X, Wang J, Mitchell E, Guo J, Wang L, Zhang Y, Hodge JC, Shen Y. Chen X, et al. BMC Med Genet. 2014 Aug 19;15:90. doi: 10.1186/s12881-014-0090-9. BMC Med Genet. 2014. PMID: 25135225 Free PMC article.

10

Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.

Chen X, Wang J, Xie H, Zhou W, Wu Y, Wang J, Qin J, Guo J, Gu Q, Zhang X, Ji T, Zhang Y, Xiong Z, Wang L, Wu X, Latham GJ, Jiang Y. Chen X, et al. BMC Pediatr. 2015 Jul 15;15:77. doi: 10.1186/s12887-015-0394-8. BMC Pediatr. 2015. PMID: 26174701 Free PMC article.

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