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Page 1
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network,; Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad MJ. Mirzaa GM, et al. Among authors: xia k. Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14. Genet Med. 2020. PMID: 31723249 Free PMC article.
Genetics of autism spectrum disorders.
Guo H, Hu Z, Zhao J, Xia K. Guo H, et al. Among authors: xia k. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2011 Aug;36(8):703-11. doi: 10.3969/j.issn.1672-7347.2011.08.001. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2011. PMID: 21937793 Review.
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.
AMPD1 functional variants associated with autism in Han Chinese population.
Zhang L, Ou J, Xu X, Peng Y, Guo H, Pan Y, Chen J, Wang T, Peng H, Liu Q, Tian D, Pan Q, Zou X, Zhao J, Hu Z, Xia K. Zhang L, et al. Among authors: xia k. Eur Arch Psychiatry Clin Neurosci. 2015 Sep;265(6):511-7. doi: 10.1007/s00406-014-0524-6. Epub 2014 Aug 26. Eur Arch Psychiatry Clin Neurosci. 2015. PMID: 25155876
1,835 results