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14年。主持省级医学科研课题3项，取得专利1项，以第一或通讯作者发表研究论文33篇，其中18篇被SCI收录。

主持课题：

[1] 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，在研，主持

[2] 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

[3] 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：

[1] Liu C, Huang Y, Zhang Y, et al. Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice. Int J Pediatr Otorhinolaryngol. 2022;161:111258.

[2] 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.

[3] 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.

[4] 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

[5] 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.

[6] 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.

[7] 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.

[8] 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.

[9] 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.

[10] 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.

[11] 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.

[12] 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.

[13] 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.

[14] 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.

[15] 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.

[16] 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.

[17] 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.

[18] 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.

[19] 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.

[20] 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.

[21] 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.

[22] 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.

[23] 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.

[24] 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.

[25] 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.