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Non-coding genetic variants in human disease.
Zhang F, Lupski JR. Zhang F, et al. Hum Mol Genet. 2015 Oct 15;24(R1):R102-10. doi: 10.1093/hmg/ddv259. Epub 2015 Jul 7. Hum Mol Genet. 2015. PMID: 26152199 Free PMC article. Review.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Liu P, Yuan B, Carvalho CMB, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR. Liu P, et al. Among authors: zhang l, zhang f. Cell. 2017 Feb 23;168(5):830-842.e7. doi: 10.1016/j.cell.2017.01.037. Cell. 2017. PMID: 28235197 Free PMC article.
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.
Assessing structural variation in a personal genome-towards a human reference diploid genome.
English AC, Salerno WJ, Hampton OA, Gonzaga-Jauregui C, Ambreth S, Ritter DI, Beck CR, Davis CF, Dahdouli M, Ma S, Carroll A, Veeraraghavan N, Bruestle J, Drees B, Hastie A, Lam ET, White S, Mishra P, Wang M, Han Y, Zhang F, Stankiewicz P, Wheeler DA, Reid JG, Muzny DM, Rogers J, Sabo A, Worley KC, Lupski JR, Boerwinkle E, Gibbs RA. English AC, et al. Among authors: zhang f. BMC Genomics. 2015 Apr 11;16(1):286. doi: 10.1186/s12864-015-1479-3. BMC Genomics. 2015. PMID: 25886820 Free PMC article.
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.
Yang N, Wu N, Zhang L, Zhao Y, Liu J, Liang X, Ren X, Li W, Chen W, Dong S, Zhao S, Lin J, Xiang H, Xue H, Chen L, Sun H, Zhang J, Shi J, Zhang S, Lu D, Wu X, Jin L, Ding J, Qiu G, Wu Z, Lupski JR, Zhang F. Yang N, et al. Among authors: zhang l, zhang s, zhang f, zhang j. Hum Mol Genet. 2019 Feb 15;28(4):539-547. doi: 10.1093/hmg/ddy358. Hum Mol Genet. 2019. PMID: 30307510 Free PMC article.
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