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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: chen j, chen b. Mol Autism. 2018 Dec 13;9:64. doi: 10.1186/s13229-018-0247-z. eCollection 2018. Mol Autism. 2018. PMID: 30564305 Free PMC article.
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: chen j. 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: chen j. 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
Association of genetic variants of GRIN2B with autism.
Pan Y, Chen J, Guo H, Ou J, Peng Y, Liu Q, Shen Y, Shi L, Liu Y, Xiong Z, Zhu T, Luo S, Hu Z, Zhao J, Xia K. Pan Y, et al. Among authors: chen j. Sci Rep. 2015 Feb 6;5:8296. doi: 10.1038/srep08296. Sci Rep. 2015. PMID: 25656819 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: chen j. Sci Rep. 2017 Mar 10;7:44155. doi: 10.1038/srep44155. Sci Rep. 2017. PMID: 28281572 Free PMC article. Clinical Trial.
The autism risk gene CNTN4 modulates dendritic spine formation.
Zhao R, Zhu T, Liu Q, Tian Q, Wang M, Chen J, Tong D, Yu B, Guo H, Xia K, Qiu Z, Hu Z. Zhao R, et al. Among authors: chen j. Hum Mol Genet. 2021 Dec 27;31(2):207-218. doi: 10.1093/hmg/ddab233. Hum Mol Genet. 2021. PMID: 34415325
Loss-of-function mutations in FREM2 disrupt eye morphogenesis.
Zhang X, Wang D, Dongye M, Zhu Y, Chen C, Wang R, Long E, Liu Z, Wu X, Lin D, Chen J, Lin Z, Wang J, Li W, Li Y, Li D, Lin H. Zhang X, et al. Among authors: chen j, chen c. Exp Eye Res. 2019 Apr;181:302-312. doi: 10.1016/j.exer.2019.02.013. Epub 2019 Feb 22. Exp Eye Res. 2019. PMID: 30802441
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