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New ZNF644 mutations identified in patients with high myopia.
Xiang X, Wang T, Tong P, Li Y, Guo H, Wan A, Xia L, Liu Y, Li Y, Tian Q, Shen L, Cai X, Tian L, Jin X, Xia K, Hu Z. Xiang X, et al. Among authors: xia l, xia k. Mol Vis. 2014 Jun 30;20:939-46. eCollection 2014. Mol Vis. 2014. PMID: 24991186 Free PMC article.
Mutation analysis of the NRXN1 gene in a Chinese autism cohort.
Liu Y, Hu Z, Xun G, Peng Y, Lu L, Xu X, Xiong Z, Xia L, Liu D, Li W, Zhao J, Xia K. Liu Y, et al. Among authors: xia l, xia k. J Psychiatr Res. 2012 May;46(5):630-4. doi: 10.1016/j.jpsychires.2011.10.015. Epub 2012 Mar 9. J Psychiatr Res. 2012. PMID: 22405623
SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia.
Guo H, Jin X, Zhu T, Wang T, Tong P, Tian L, Peng Y, Sun L, Wan A, Chen J, Liu Y, Li Y, Tian Q, Xia L, Zhang L, Pan Y, Lu L, Liu Q, Shen L, Li Y, Xiong W, Li J, Tang B, Feng Y, Zhang X, Zhang Z, Pan Q, Hu Z, Xia K. Guo H, et al. Among authors: xia l, xia k. J Med Genet. 2014 Aug;51(8):518-25. doi: 10.1136/jmedgenet-2014-102351. Epub 2014 Jun 2. J Med Genet. 2014. PMID: 24891338 Free PMC article.
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg ZN, Peng Y, Bai T, Li H, Ke X, Hu Z, Zhao J, Zou X, Xia K, Eichler EE. Wang T, et al. Among authors: xia l, xia k. Nat Commun. 2016 Nov 8;7:13316. doi: 10.1038/ncomms13316. Nat Commun. 2016. PMID: 27824329 Free PMC article.
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Guo H, Peng Y, Hu Z, Li Y, Xun G, Ou J, Sun L, Xiong Z, Liu Y, Wang T, Chen J, Xia L, Bai T, Shen Y, Tian Q, Hu Y, Shen L, Zhao R, Zhang X, Zhang F, Zhao J, Zou X, Xia K. Guo H, et al. Among authors: xia l, xia k. Sci Rep. 2017 Mar 10;7:44155. doi: 10.1038/srep44155. Sci Rep. 2017. PMID: 28281572 Free PMC article. Clinical Trial.
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo H, Wang T, Wu H, Long M, Coe BP, Li H, Xun G, Ou J, Chen B, Duan G, Bai T, Zhao N, Shen Y, Li Y, Wang Y, Zhang Y, Baker C, Liu Y, Pang N, Huang L, Han L, Jia X, Liu C, Ni H, Yang X, Xia L, Chen J, Shen L, Li Y, Zhao R, Zhao W, Peng J, Pan Q, Long Z, Su W, Tan J, Du X, Ke X, Yao M, Hu Z, Zou X, Zhao J, Bernier RA, Eichler EE, Xia K. Guo H, et al. Among authors: xia l, xia k. Mol Autism. 2018 Dec 13;9:64. doi: 10.1186/s13229-018-0247-z. eCollection 2018. Mol Autism. 2018. PMID: 30564305 Free PMC article.
6,747 results