2008.09-2013.12 中南大学 遗传学 博士

2011.10-2012.10 美国国立卫生研究院（NIM）精神卫生研究所（NIMH） 博士联合培养

2004.09-2008.06 中南大学 学士

2017.2-至今 华盛顿大学医学院 基因组学系 访问学者 2015.10-至今 中南大学生命科学学院 副研究员 2014.6-2015.10 中南大学生命科学学院 助理研究员

[1]孤独症等神经发育疾病临床遗传资源库的构建：通过与国内多个临床中心合作，采用统一标准建立中国人群孤独症，智力障碍，癫痫，发育迟缓等神经发育疾病临床与遗传资源样本库，向国内外研究机构开放合作。

[2]孤独症等神经发育疾病的遗传结构：利用新一代高通量测序等技术鉴定孤独症相关的结构变异/单核苷酸变异/插入缺失变异及其表现度和外显率；通过基因型-表型关联研究发现孤独症等神经发育疾病的致病和风险基因以及相应的临床亚型；构建MODEL解释疾病在个体水平的遗传结构用于疾病的早期诊断和风险预警。

[3]孤独症等神经发育疾病致病或风险基因的功能机制：利用小鼠和果蝇动物模型研究课题组前期发现的孤独症风险基因CSDE1的基因组表达调控机制以及与孤独症发生的关系；孤独症高风险基因新发突变的功能机制研究

1. Xu X*, Li C*, Gao X*, Xia K*, Guo H, Li Y, Hao Z, Zhang L, Gao D, Xu C, Xu H, Xiong ZQ, Qiu Z, Mei L, Xie X, Ruan K, Hu R#. Excessive UBE3A dosage impairs retinoic acid signaling and synaptic plasticity in autism spectrum disorders. Cell Res. 2018 28(1):48-68.

2. 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#. Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort. Sci Rep. 2017 10;7:44155.

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4. Li J*, Wang L*, Guo H, Shi L, Zhang K, Tang M, Hu S, Dong S, Liu Y, Wang T, Yu P, He X, Hu Z, Zhao J, Liu C#, Sun ZS#, Xia K#. Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Mol Psychiatry. 2017 22(9):1282-1290.

5. Wang T*, Guo H*, Xiong B*, Stessman H*, Wu H, Coe B, Turner T, Liu Y, Zhao W, Hoekzema K, Vives L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Xia L, Lin J, Peng Y, Bai T, Li H, Ke X, Hu Z, Zhao J, Zou X, Xia K#, Eichler E#. De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Comms, 2016, 7:13316.

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7. Guo H*, Tong P*, Liu Y*, Xia L, Wang T, Tian Q, Li Y, Hu Y, Zheng Y, Jin X, Li Y, Xiong W, Tang B, Feng Y, Li J, Pan Q, Hu Z#, Xia K#. Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with non-syndromic high myopia. Genet Med. 2015 17(4): 300-306.

8. 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#. Association of genetic variants of GRIN2B with autism. Sci Rep. 2015 6;5:8296.

9. Guo H*, Jin XM*, Zhu TF*, Wang TY, Tong P, Tian L, Peng Y, Sun LD, Wan AR, Chen JJ, Liu YY, Li Y, Tian Q, Xia L, Zhang LS, Pan YC, Lu LN, Liu Q, Shen L, Li YP, Xiong W, Li JD, Tang BS, Feng Y, Zhang XJ, Zhang ZZ, Pan Q, Hu ZM#, Xia K#. SLC39A5 mutations interfering BMP/TGF-β pathway in nonsyndromic high myopia. J Med Genet. 2014. 51:518-525.

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