一、基本信息
姓名：徐湘民
职称：教授
联系邮箱：xixm@smu.edu.cn
二、拟招收博士后开展的研究方向
1. 遗传性血红蛋白病分子机制研究以及遗传修饰因子调控机制研究；
2. 遗传性血液病分子诊断技术的研发；
3. 生物信息方向，大数据信息挖掘。
三、主要学术任职
1.医学遗传学分会，现任主任委员
2.医学遗传学分会，候任主任委员
3.中国遗传学会人类与医学遗传专业委员会，副主任委员
4.中国医师协会医学遗传医师分会，常务委员
5.广东省医学会医学遗传学分会，前任主任委员
四、主要获奖情况
1. 国家科学进步二等奖，国家级，2011；
2. 全国优秀科技工作者，中国科学技术协会，2014；
3. 政府特殊津贴获得者，国家级，2013；
4. 国家杰出青年，国家级，2004；
5. 广东特支计划杰出人才，广东省人力资源和社会保障厅，2015。
五、代表性论文
近五年通讯作者论文：
1. A Cell-free DNA Barcode-Enabled Single-Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β-Thalassemia , Advanced Science, IF:12.44 .
2. Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease,
3. miR-326 regulates HbF synthesis by targeting EKLF in human erythroid cells , Experimental Hematology, IF:2.436 , 2018;63:33-40.
4. Role of tissue-specifific promoter DNA methylation in regulating the human EKLF gene, Blood Cells, Molecules and Diseases, IF:1.836 2018;71:16-22.
5. Systematic assessment of the performance of whole-genome amplifification for SNP/CNV detection and β-thalassemia genotyping, Journal of Human Genetics, IF:2.942, 2018;63:407-416.
6. A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression，American Journal of Human Genetics，IF:9.02, 2017;101:130-138.
7. Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies. EBio Medicine, IF: 6.183, 2017;23:150-159.
8. Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy. Clin Chem Lab Med, IF:3.432,2017;53:358-367.
9. Mutation in SSUH2 Causes Autosomal Dominant Dentin Dysplasia Type I. Human Mutation. IF:5.06, 2017;38:95-104.
10. A splicing mutation in VPS4B causes dentin dysplasia I.J Med Genet. IF:6.335, 2016;53: 624-633.
11. Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families. Mol Genet Genomics. Mol Genet Genomics. IF:2.728, 2016;291:1443-1450.
12. Human STEAP3 mutations with no phenotypic red cell changes. Blood, IF:15.132, 2016;127:1067-1071.
13. Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin. Eur J Hum Genet.IF: 4.349, 2015;23:1341-1348.
14. Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations. Clin Genet. IF:3.931, 2015;88: 56-61.
15. Analysis of human upstream open reading frames and impact on gene expression. Hum Genet.IF:4.824, 2015;134:605-614.
16. Melting temperature of molecular beacons as an indicator of the ligase detection reaction for multiplex detection of point mutations. Analytical Methods,IF:2.073, 2015;7 :4225-4230.
17. KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia. Blood, IF:15.132, 2014;124:803-811.
