【个人简介】

刘畅，中共党员，主任技师，硕士研究生导师。 2010年毕业于暨南大学遗传学专业，2014-2015年于哈佛大学医学院/波士顿儿童医院进修临床分子诊断学。在广东省妇幼保健院医学遗传中心从事临床分子诊断与研究工作16年。主持省级医学科研课题4项，取得专利1项，以第一或通讯作者发表研究论文35篇，其中19篇被SCI收录。

【科研项目】

1. 广东省卫生信息网络协会科研课题项目，HX-202507-0003，基于双聚类算法的基因共表达模块分析五子衍宗丸生精作用的分子机制，2026/01 -2026/12，在研，主持

2. 广东省医学科学技术研究基金项目，A2023500，母源造血干细胞经胚外体腔移植以克服免疫屏障纠正胎鼠贫血表现，2023/07 -2025/06，已结题，主持

3. 广东省医学科学技术研究基金项目，A2019358，探讨（围）妊娠期HPV疫苗接种对母胎妊娠结局的影响，2019/07 -2021/06，已结题，主持

4. 广东省医学科学技术研究基金项目，A2016225，中国人群耳聋基因筛查靶点选定，2016/07 -2018/06，已结题，主持

【代表性论文及著作】

1. Liu C, Huang Y, Fu A, Wang Y, Wu J, Zhang Y, Du L, Ding H, Yu L, Li F, Qi Y, Liu Y, Wang X, Zeng Y, Liu L, Xiong Y, Liu Y, Zhao X, Fang L, Jian J, Yin A, You Y. Clinical utility of exome sequencing in hearing loss: a retrospective cohort study. Front Genet. 2025;16:1643537.

2. Liu C, Huang Y, Wang Y, Zhang Y, Du L, Yu L, Ding H, Li F, Qi Y, Liu Y, Wang X, Guo F, Xiong Y, Zhao X, Fang L, Geng J, Fu A, Wu J, Yin A. Exome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis. QJM. 2024 Oct 11:hcae187.

3. Liu C, Huang Y, Wang Y, Zhang Y, Du L, Yu L, Ding H, Li F, Qi Y, Liu Y, Wang X, Guo F, Xiong Y, Zhao X, Fang L, Geng J, Fu A, Wu J, Yin A. Exome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis. QJM. 2025;118(2):87-96.

4. Liu C, Wang A, Huang Y, et al. Development of a community-based hearing loss prevention and control service model in Guangdong, China. BMC Public Health. 2019;19(1):1601.

5. Liu C, Zhang X, Wang J, et al. Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China. Mol Cytogenet. 2019;12:7.

6. Liu C, Wang SY, Zhao M, et al. Mitochondrial DNA polymorphisms in Gelao ethnic group residing in Southwest China. Forensic Sci Int Genet. 2011;5(1):e4-e10. doi:10.1016/j.fsigen.2010.04.007

7. Wang Y, Liu C (共一作), Hu R, et al. Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review. Front Pediatr. 2023;11:1141665.

8. Wang Y, Liu C (共一作), Hu R, et al. Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome. Orphanet J Rare Dis. 2023;18(1):305.

9. Huang Y, Liu C (共一作), Ding H, et al. Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study. Front Genet. 2023;14:1032346.

10. Wang Y, Liu C (共一作), Yin A, et al. Prenatal diagnosis of fetal right ventricular diverticulum with massive pericardial effusion in one of monochorionic diamniotic twins: a case report with a favorable outcome following in utero pericardiocentesis. J Int Med Res. 2021;49(1):300060520986668.

11. Wang A, Liu C (共一作), Wang Y, et al. Pregnancy Outcomes After Human Papillomavirus Vaccination in Periconceptional Period or During Pregnancy: A Systematic Review and Meta-analysis. Hum Vaccin Immunother. 2020;16(3):581-589.

12. Yin A, Liu C (共一作), Zhang Y, et al. Genetic counseling and prenatal diagnosis for hereditary hearing loss in high-risk families. Int J Pediatr Otorhinolaryngol. 2014;78(8):1356-1359.

13. Yin A, Liu C (共一作), Zhang Y, et al. The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age. BMC Med Genet. 2013;14:57.

14. Shen SS, Liu C, Xu ZY, Hu YH, Gao GF, Wang SY. Heteroplasmy levels of mtDNA1555A>G mutation is positively associated with diverse phenotypes and mutation transmission in a Chinese family. Biochem Biophys Res Commun. 2012;420(4):907-912.

15. Wang Y, Xiong Y, Liu C, et al. Characterisation of two unusual cases of haemoglobin Bart's hydrops foetalis caused by -SEA and large novel α-globin gene cluster deletions. J Int Med Res. 2021;49(2):300060521993642.

16. Yin A, Lu J, Liu C, et al. A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics. Mol Cytogenet. 2014;7:26.

17. Yin AH, Peng CF, Zhao X, et al. Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA. Proc Natl Acad Sci U S A. 2015;112(47):14670-14675.

18. Yin A, Zhang L, Luo M, et al. Development of bead-based suspension array technology for the diagnosis of thalassemia. Am J Hematol. 2014;89(12):1158-1159.

19. Yin A, Li B, Luo M, et al. The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China. PLoS One. 2014;9(2):e89855.

20. 刘畅,黄演林,汪安石, ... &尹爱华.阶梯式耳聋基因诊断策略及其临床实践[J].分子诊断与治疗杂志,2022,14(01):6-9.

21. 刘畅,张彦,丁红珂, ... &尹爱华.32497例正常听力孕龄女性耳聋基因携带率与突变谱调查[J].分子诊断与治疗杂志,2017,9(05):325-327+340.

22. 刘畅,张彦,杨杰, ... &尹爱华.新生儿听力筛查联合聋病易感基因检测的临床应用价值[J].中华实用诊断与治疗杂志,2017,31(09):884-886.

23. 刘畅,丁红珂,吴菁, ... &尹爱华.遗传性耳聋的产前诊断与遗传咨询[J].中国产前诊断杂志(电子版),2015,7(04):35-39.

24. 刘畅,高国凤,胡玉华, ... &王沙燕.线粒体DNA突变致聋家系检测及单倍型分析[J].中华耳科学杂志,2010,8(04):402-406.

25. 刘畅,高国凤,胡玉华, ... &王沙燕.非综合征性耳聋家系的临床分析与基因检测[J].中国妇幼保健,2010,25(33):4892-4894.

26. 刘畅,王沙燕.线粒体DNA A1555G突变的异质性研究进展[J].国际遗传学杂志,2009(04):302-306.

27. 黄演林,汪安石,王逾男,... & 刘畅（通讯作者）.建立耳聋防控的区域服务模型以推进健康中国战略[J]. 中国产前诊断杂志,2021,13(04):28-32.