Zhang F - Search Results

1

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. Among authors: zhang f. 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.

2

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: zhang f. 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.

3

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population.

An Y, Duan W, Huang G, Chen X, Li L, Nie C, Hou J, Gui Y, Wu Y, Zhang F, Shen Y, Wu B, Wang H. An Y, et al. Among authors: zhang f. BMC Med Genomics. 2016 Jan 8;9:2. doi: 10.1186/s12920-015-0163-4. BMC Med Genomics. 2016. PMID: 26742958 Free PMC article.

4

RET somatic mutations are underrecognized in Hirschsprung disease.

Jiang Q, Liu F, Miao C, Li Q, Zhang Z, Xiao P, Su L, Yu K, Chen X, Zhang F, Chakravarti A, Li L. Jiang Q, et al. Among authors: zhang f, zhang z. Genet Med. 2018 Jul;20(7):770-777. doi: 10.1038/gim.2017.178. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261189 Free PMC article.

5

NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population.

Jiang Y, Zhang Y, Zhang P, Zhang F, Xie H, Chan P, Wu X. Jiang Y, et al. Among authors: zhang p, zhang f, zhang y. Hum Genet. 2014 May;133(5):675-6. doi: 10.1007/s00439-014-1428-2. Epub 2014 Feb 6. Hum Genet. 2014. PMID: 24500577 No abstract available.

6

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.

Zhang L, Wang J, Zhang C, Li D, Carvalho CMB, Ji H, Xiao J, Wu Y, Zhou W, Wang H, Jin L, Luo Y, Wu X, Lupski JR, Zhang F, Jiang Y. Zhang L, et al. Among authors: zhang c, zhang f. Hum Mol Genet. 2017 May 15;26(10):1927-1941. doi: 10.1093/hmg/ddx102. Hum Mol Genet. 2017. PMID: 28334874 Free PMC article.

7

CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.

Chen L, Zhou W, Zhang C, Lupski JR, Jin L, Zhang F. Chen L, et al. Among authors: zhang c, zhang f. Hum Mol Genet. 2015 Mar 15;24(6):1574-83. doi: 10.1093/hmg/ddu572. Epub 2014 Nov 14. Hum Mol Genet. 2015. PMID: 25398944 Free PMC article.

8

SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.

Guan J, Wang D, Cao W, Zhao Y, Du R, Yuan H, Liu Q, Lan L, Zong L, Yang J, Yin Z, Han B, Zhang F, Wang Q. Guan J, et al. Among authors: zhang f. J Hum Genet. 2016 Nov;61(11):917-922. doi: 10.1038/jhg.2016.86. Epub 2016 Jul 7. J Hum Genet. 2016. PMID: 27383657 Free PMC article.

9

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.

Jiang Y, Zhang Y, Zhang P, Sang T, Zhang F, Ji T, Huang Q, Xie H, Du R, Cai B, Zhao H, Wang J, Wu Y, Wu H, Xu K, Liu X, Chan P, Wu X. Jiang Y, et al. Among authors: zhang p, zhang f, zhang y. Hum Genet. 2012 Jul;131(7):1217-24. doi: 10.1007/s00439-012-1149-3. Epub 2012 Feb 26. Hum Genet. 2012. PMID: 22367439

10

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR. Liu P, et al. Among authors: zhang f. Am J Hum Genet. 2014 Mar 6;94(3):462-9. doi: 10.1016/j.ajhg.2014.01.017. Epub 2014 Feb 13. Am J Hum Genet. 2014. PMID: 24530202 Free PMC article.

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