近年发表部分文章：
1. Ding Y, Li N, Lou D, Zhang Q, Chang G, Li J, Li X, Li Q, Huang X, Wang J, Jiang F, Wang X. Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia. J Diabetes Investig. 2021 Jan;12(1):48-62. doi: 10.1111/jdi.13322. 通讯作者
2. Qun Li#, Guoying Chang#, LeiYin, Juan Li, Xiaodong Huang, Yongnian Shen, Guoqiang Li, Yufei Xu, JianWang*, XiuminWang*, Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome, Sci Rep,2020 Dec 4;10(1):21224. 通讯作者
3. Sun L, Zhang Q, Li Q, Tang Y, Wang Y, Li X, Li N, Wang J, Wang X. A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature. BMC Med Genet. 2020 Oct 31;21(1):215. doi: 10.1186/s12881-020-01146-3. PMID: 33129256; PMCID: PMC7603772. 通讯作者
4. Wang Y, Li N, Su Z, Xu Y, Liu S, Chen Y, Li X, Shen Y, Hung C, Wang J, Wang X, Bodamer O. The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series. Am J Med Genet A,2020, 182(4):640-651. 共同通讯作者
5. Yi-Rou Wang, Nai-Xin Xu, Jian Wang, Xiu-Min Wang. Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms. World J Pediatr (2019). 2019 Dec;15(6):528-535. doi: 10.1007/s12519-019-00309-4. 通讯作者
6. Li X, Cheng Q, Ding Y, Li Q, Yao R, Wang J, Wang X. TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report. BMC Pediatr. 2019 Jul 11;19(1):233. doi:10.1186/s12887-019-1608-2.通讯作者
7. Xu Y, Wang Y, Li N, Yao R, Li G, Li J, Ding Y, Chen Y, Huang X, Chen Y, Qing Y, Yu T, Shen Y, Wang X, Shen Y, Wang J. New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development. Eur J Endocrinol. 2019 Jul 1. pii: EJE-19-0111.R1. doi:10.1530/EJE-19-0111. 共同通讯作者.
8. Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X. Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. Clin Genet. 2019 Oct;96(4):290-299. doi: 10.1111/cge.13588.共同通讯作者
9. Chen H, Li X, Liu X, Wang J, Zhang Z, Wu J, Huang M, Guo Y, Li F, Wang X, Fu L. Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. Orphanet J Rare Dis. 2019 Feb 7;14(1):29. doi: 10.1186/s13023-019-1010-z. 共同通讯作者
10. Li X, Cheng Q, Li N, Chang G, Ding Y, Li J, Shen Y, Wang J, Wang X. SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS. Fetal Pediatr Pathol. 2018 Dec 28:1-7. doi: 10.1080/15513815.2018.1509406. 通讯作者
11. Li N, Wang Y, Yang Y, Wang P, Huang H, Xiong S, Sun L, Cheng M, Song C, Cheng X, Ding Y, Chang G, Chen Y, Xu Y, Yu T, Yao RE, Shen Y, Wang X, Wang J. Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients. Orphanet J Rare Dis. 2018 Oct 11;13(1):178. doi: 10.1186/s13023-018-0909-0. 共同通讯作者
12. Yu T, Chang G, Cheng Q, Yao R, Li J, Xu Y, Li G, Ding Y, Qing Y, Li N, Shen Y, Wang X, Wang J. Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure. Mol Cell Endocrinol. 2018 Dec 15;478:133-140. doi: 10.1016/j.mce.2018.08.006. Epub 2018 Aug 17. PubMed PMID: 30125608. 共同通讯作者.
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