一、教育经历：

2004/09-2007/07 威尼斯84881/医学遗传学国家重点实验室 遗传学 博士

2001/09-2004/07 威尼斯84881/医学遗传学国家重点实验室 遗传学 硕士

1990/09-1994/07 湖南师范大学生物系 生物学 学士

二、工作经历：

2019/01-至今 威尼斯84881 副院长

2016/10-至今 威尼斯84881/医学遗传学研究中心 研究员

2012/12-2013/12 伊利诺伊大学芝加哥分校 访问学者

2010/10-2016/09 威尼斯84881/医学遗传学国家重点实验室 副研究员

2007/07-2010/09 威尼斯84881 助理研究员

1994/07-2001/08 湖南省食用菌研究所 实习研究员/助理研究员

三、研究方向：

长期从事人类遗传性疾病致病基因鉴定及功能研究，擅长于应用传统基因定位及候选克隆策略、外显子组捕获结合高通量测序等手段发现遗传性疾病致病基因，并采用细胞模型和动物模型研究其致病机制。目前主要研究方向：

（1）儿童孤独症的遗传基础及机制研究；

（2）高度近视的遗传基础及机制研究。

四、代表性论文：

(1) R. Zhao#, T. Zhu#, Q. Liu, Q. Tian, M. Wang, J. Chen, D. Tong, B. Yu, H. Guo, K. Xia, Z. Qiu* and Z. Hu*. "The autism risk gene CNTN4 modulates dendritic spine formation." Hum Mol Genet, 2021 Aug; doi: 10.1093/hmg/ddab233

(2) S. Dong, Q. Tian, T. Zhu, K. Wang, G. Lei, Y. Liu, H. Xiong, L. Shen, M. Wang, R. Zhao, H. Wu, B. Li, Q. Zhang, Y. Yao, H. Guo, K. Xia, L. Xia* and Z. Hu*. "Slc39a5 Dysfunction Impairs Extracellular Matrix Synthesis in High Myopia Pathogenesis." J Cell Mol Med, 2021 Jul; doi: 10.1111/jcmm.16803

(3) A. Ahmed#, M. Wang#, G. Bergant*, R. Maroofian, R. Zhao, M. Alfadhel, M. Nashabat, M. T. AlRifai, W. Eyaid, A. Alswaid, C. Beetz, Y. Qin, T. Zhu, Q. Tian, L. Xia, H. Wu, L. Shen, S. Dong, X. Yang, C. Liu, L. Ma, Q. Zhang, R. Khan, A. A. Shah, J. Guo, B. Tang, L. Leonardis, K. Writzl, B. Peterlin, H. Guo, S. Malik, K. Xia* and Z. Hu*. "Biallelic Loss-of-Function Variants in Nemf Cause Central Nervous System Impairment and Axonal Polyneuropathy." Hum Genet, 2021, 140:579-92.

(4) W. Li, Y. Li, L. Zhang, H. Guo, D. Tian, Y. Peng, Y. Zheng, Y. Dai, K. Xia, X. Lan*, B. Wang* and Z. Hu*. "Akap2 Identified as a Novel Gene Mutated in a Chinese Family with Adolescent Idiopathic Scoliosis." J Med Genet, 2016: 488-93.

(5) H. Guo#, P. Tong#, Y. Liu#, L. Xia, T. Wang, Q. Tian, Y. Li, Y. Hu, Y. Zheng, X. Jin, Y. Li, W. Xiong, B. Tang, Y. Feng, J. Li, Q. Pan, Z. Hu* and K. Xia*. "Mutations of P4ha2 Encoding Prolyl 4-Hydroxylase 2 Are Associated with Nonsyndromic High Myopia." Genet Med, 2015: 300-6.

(6) K. Xia#, H. Guo#, Z. Hu#, G. Xun, L. Zuo, Y. Peng, K. Wang, Y. He, Z. Xiong, L. Sun, Q. Pan, Z. Long, X. Zou, X. Li, W. Li, X. Xu, L. Lu, Y. Liu, Y. Hu, D. Tian, L. Long, J. Ou, L. Zhang, Y. Pan, J. Chen, H. Peng, Q. Liu, X. Luo, W. Su, L. Wu, D. Liang, H. Dai, X. Yan, Y. Feng, B. Tang, J. Li, Z. Miedzybrodzka, J. Xia, Z. Zhang, X. Zhang, D. St Clair, J. Zhao* and F. Zhang*. "Common Genetic Variants on 1p13.2 Associate with Risk of Autism." Mol Psychiatry, 2014: 1212-9.

(7) H. Guo#, X. Jin#, T. Zhu#, T. Wang, P. Tong, L. Tian, Y. Peng, L. Sun, A. Wan, J. Chen, Y. Liu, Y. Li, Q. Tian, L. Xia, L. Zhang, Y. Pan, L. Lu, Q. Liu, L. Shen, W. Xiong, J. Li, B. Tang, Y. Feng, X. Zhang, Z. Zhang, Q. Pan, Z. Hu* and K. Xia*. "Slc39a5 Mutations Interfering with the Bmp/Tgf-Beta Pathway in Non-Syndromic High Myopia." J Med Genet, 2014: 518-25.

(8) Z. Hu#, Z. Xiong#, X. Xu#, F. Li, L. Lu, W. Li, J. Su, Y. Liu, D. Liu, Z. Xie, Y. Peng, Y. Kuang, L. Wu, J. Zhang, Q. Pan, B. Tang, X. Chen* and K. Xia*. "Loss-of-Function Mutations in Filaggrin Gene Associate with Psoriasis Vulgaris in Chinese Population." Hum Genet, 2012: 1269-74.

(9) Z. Hu#, C. Yu#, J. Li, Y. Wang, D. Liu, X. Xiang, W. Su, Q. Pan, L. Xie* and K. Xia*. "A Novel Locus for Congenital Simple Microphthalmia Family Mapping to 17p12-Q12." Invest Ophthalmol Vis Sci, 2011: 3425-9.