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张海晨

张海晨(zhanghaichen@genomics.cn),博士毕业于美国马里兰大学医学院人类遗传学专业,博士期间课题方向为单基因糖尿病分子诊断率提高策略。发表SCI文章8篇,一作3篇,其中2篇影响因子大于10;其余非一作文章含一篇Nature子刊。多次在国际会议有海报展示,如ASHG,ACMG和ADA等。作为ClinGen Monogenic Diabetes 专家组成员,参与单基因糖尿病致病基因突变解读指南规则的制定。加入华大后参与IgAN肾病遗传机制研究,渐冻症致病基因挖掘,CKB项目突变图谱分析等工作。

研究方向:中国慢性病前瞻性研究队列-人群基因组保守性分析

现任岗位:华大研究员 北京分院 精准所 生物信息副研究员

教育背景:马里兰大学 医学院 人类遗传 博士

参与项目:

1.中国慢性病前瞻性研究队列

2.基于全基因组测序数据探索渐冻症潜在致病基因

论文:

1.Zhang, H., J.W. Kleinberger, et al. (2022) Model for Integration of Monogenic Diabetes Diagnosis into Routine Care: The Personalized Diabetes Medicine Program. Diabetes care, 45 (8), 1799-180

2.Zhang, H., Colclough, K., Gloyn, A.L., Pollin, T.I. (2021) Monogenic diabetes: a gateway to precision medicine in diabetes. Journal of Clinical Investigation, 131(3), e142244.

3.Zhang, H., & Pollin, T. I. (2018). Epigenetics Variation and Pathogenesis in Diabetes. Current diabetes reports, 18(11), 121.

4.Todd, J. N., Kleinberger, J. W., Zhang, H., Srinivasan, S., Tollefsen, S. E., Levitsky, L. L., Levitt Katz, L. E., Tryggestad, J. B., Bacha, F., Imperatore, G., Lawrence, J. M., Pihoker, C., Divers, J., Flannick, J., Dabelea, D., Florez, J. C., & Pollin, T. I. (2021). Monogenic Diabetes in Youth With Presumed Type 2 Diabetes: Results From the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration. Diabetes care, dc210491.

5.Goodrich, J. K., Singer-Berk, M., Son, R., Sveden, A., Wood, J., England, E., ..,Zhang, H..... & Udler, M. S. (2021). Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nature communications, 12(1), 1-15.

6.Wan, X., Perry, J., Zhang, H., …, Fu, M. (2021) Heterozygosity for a pathogenic variant in SLC12A3 that causes autosomal recessive Gitelman syndrome is associated with lower serum potassium. Journal of the American Society of Nephrology, 32(3), 756-765.


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