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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.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T. Stessman HAF, et al. Among authors: xia k. Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004. Am J Hum Genet. 2016. PMID: 26942287 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.
1,748 results