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A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.
Pen AE, Nyegaard M, Fang M, Jiang H, Christensen R, Mølgaard H, Andersen H, Ulhøi BP, Østergaard JR, Væth S, Sommerlund M, de Brouwer AP, Zhang X, Jensen UB. Pen AE, et al. Among authors: jiang h. Eur J Med Genet. 2015 Apr;58(4):222-9. doi: 10.1016/j.ejmg.2015.02.003. Epub 2015 Feb 25. Eur J Med Genet. 2015. PMID: 25724586
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants.
Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T, Grarup N, Guo Y, Hellman I, Jin X, Li Q, Liu J, Liu X, Sparsø T, Tang M, Wu H, Wu R, Yu C, Zheng H, Astrup A, Bolund L, Holmkvist J, Jørgensen T, Kristiansen K, Schmitz O, Schwartz TW, Zhang X, Li R, Yang H, Wang J, Hansen T, Pedersen O, Nielsen R, Wang J. Li Y, et al. Among authors: jiang t, jiang h. Nat Genet. 2010 Nov;42(11):969-72. doi: 10.1038/ng.680. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890277
Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma.
Xu Y, Li X, Ge HJ, Xiao B, Zhang YY, Ying XM, Pan XY, Wang L, Xie WW, Ni L, Chen SP, Jiang WT, Liu P, Ye H, Cao Y, Zhang JM, Liu Y, Yang ZJ, Chen YW, Chen F, Jiang H, Ji X. Xu Y, et al. Among authors: jiang h, jiang wt. Genet Med. 2015 Nov;17(11):889-96. doi: 10.1038/gim.2014.207. Epub 2015 Feb 5. Genet Med. 2015. PMID: 25654318 Free article.
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A. Mancini C, et al. Among authors: jiang h. BMC Med Genet. 2015 Mar 19;16:16. doi: 10.1186/s12881-015-0159-0. BMC Med Genet. 2015. PMID: 25927548 Free PMC article.
Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.
Guo Y, Hwang LD, Li J, Eades J, Yu CW, Mansfield C, Burdick-Will A, Chang X, Chen Y, Duke FF, Zhang J, Fakharzadeh S, Fennessey P, Keating BJ, Jiang H, Hakonarson H, Reed DR, Preti G. Guo Y, et al. Among authors: jiang h. BMC Med Genet. 2017 Feb 15;18(1):11. doi: 10.1186/s12881-017-0369-8. BMC Med Genet. 2017. PMID: 28196478 Free PMC article.
Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder.
Gui Y, Guo G, Huang Y, Hu X, Tang A, Gao S, Wu R, Chen C, Li X, Zhou L, He M, Li Z, Sun X, Jia W, Chen J, Yang S, Zhou F, Zhao X, Wan S, Ye R, Liang C, Liu Z, Huang P, Liu C, Jiang H, Wang Y, Zheng H, Sun L, Liu X, Jiang Z, Feng D, Chen J, Wu S, Zou J, Zhang Z, Yang R, Zhao J, Xu C, Yin W, Guan Z, Ye J, Zhang H, Li J, Kristiansen K, Nickerson ML, Theodorescu D, Li Y, Zhang X, Li S, Wang J, Yang H, Wang J, Cai Z. Gui Y, et al. Among authors: jiang h, jiang z. Nat Genet. 2011 Aug 7;43(9):875-8. doi: 10.1038/ng.907. Nat Genet. 2011. PMID: 21822268 Free PMC article.
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