课题研究
近三年实验室共承担国家级课题7项,其中国家自然科学基金2项目,国家十一五、十二五支撑计划项目子课题5项目,广西科技攻关项目3项,广西自然科学基金4项,卫生厅重点3项,卫生厅自筹4项;项目获得自治区科学技术进步三等奖1项、广西医药卫生适宜技术推广二等奖1项,以及实用新型专利3项。发表论文近200篇,其中SCI论文22篇,核心期刊论文近150篇,中华系列期刊20余篇,参编人民卫生出版社专著2本。
近2年发表代表性SCI论文如下:(1) Xuyun Hu, Rongyu Chen, Chunyun Fu, Xin Fan, Jin Wang, Jiale Qian, Shang Yi, Chuan Li, Jingsi Luo, Jiasun Su, Shujie Zhang, Bobo Xie, Haiyang Zheng, Yunli Lai, Yun Chen, Hongdou Li, Xuefan Gu, Shaoke Chen*, Yiping Shen*, Thyroglobulin Gene Mutations in Chinese Patients with Congenital Hypothyroidism, Molecular and Cellular Endocrinology, 2016, pii: S0303-7207(16)30007-7.
(2) Zhang S#, Qin H#, Lv W, Luo S, Wang J, Fu C, Ma R, Shen Y, Chen S*, Wu L*, Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis, Gene, 2016, 577(2): 187-92.
(3) Fu C#, Zhang S#, Su J, Luo S, Zheng H, Wang J, Qin H, Chen Y, Shen Y, Hu X, Fan X, Luo J, Xie B, Chen R, Chen S*, Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism, J Endocrinol Invest, 2015, 38(11): 1219-24.
(4) Chunyun Fu#, Rongyu Chen#, Shujie Zhang, Jin Wang, Yun Chen, Haiyang Zheng, Jiasun Su, Xuyun Hu, Xin Fan, Jingsi Luo, Shang Yi, Yunli Lai, Chuan Li, Bobo Xie, Yiping Shen, Xuefan Gu*, Shaoke Chen*, PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism, Clinica Chimica Acta, 2015, 450: 322-6
(5) Chunyun Fu#, Haiyang Zheng#, Shujie Zhang, Yun Chen, Jiasun Su, Jin Wang, Bobo Xie, Xuyun Hu, Xin Fan, Jingsi Luo, Chuan Li, Rongyu Chen, Yiping Shen, Shaoke Chen*, Mutation screening of the SLC26A4 gene in a cohort of 192 China patients with congenital hypothyroidism, Arquivos Brasileiros de Endocrinologia e Metabologia. doi: 10.1590/2359-3997000000108
(6) S Chen, X Hu, Y Shen*, Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant Classification, Clin Chem, 2015, 61(11): 1317-1319.
(7) C Li, R Chen, X Fan, J Luo, J Qian, J Wang, B Xie, Y Shen*, S Chen*, EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome, BMC Med Genet, 2015, 16: 23.
(8) R Chen, C Li, B Xie, J Wang, X Fan, J Luo, X Hu, S Chen*, Y Shen*, Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3), Mol Cytogenet, 2014, 7(1): 101.