个人介绍 学术任职 学术论着 专家风采
科室：儿童医学中心
北京大学儿科学博士，美国密歇根大学联合培养博士，儿科主治医师，副研究员，硕士研究生导师，入选北京市科协青年人才托举工程和北京大学临床科学家培养计划。主要从事儿童脑发育障碍相关神经遗传病的临床遗传学、新致病基因的鉴定与致病机制研究。作为第一/通讯作者在American Journal of Human Genetics、Brain等国内外期刊发表学术论文，参与编写《产前遗传病诊断（第二版）》、《癫痫遗传学》，入。作为课题负责人，主持国家自然科学基金、北京市自然科学基金、北大医学青年科技创新培育基金等项目9项。定位髓鞘形成低下性脑白质营养不良新致病基因TMEM63A 与TMEM163，首次将此两个基因与人类单基因病相关联，提出机械敏感离子通道、锌离子转运体参与髓鞘发育的学术观点，揭示TMEM63A突变和TMEM163突变分别通过破坏机械敏感电流和锌离子外排导致髓鞘发育障碍机制。研究成果荣获2024年北京市自然科学奖二等奖（第二完成人）。
1.Junyu Wang*, Liang Wang, Yu Zhang, Kai Gao, Jiangxi Xiao, Lin Nie, Jihang Luo, Shiqi Yang, Ye Wu, Yuwu Jiang, Huifang Yan#, Jingmin Wang #.Spatial lipidomics reveals altered lipid profiles in TMEM63A mutant rats with hypomyelination. Sci Rep. 2025;15(1):41398.
2.Huifang Yan*; Thomas Kubisiak; Kai Gao; Jiangxi Xiao; Junyu Wang; Yu Zhang; Ye Wu; Yuwu Jiang; Margit Burmeister; Jingmin Wang#; The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot, Brain, 2022, 145(12): e122-e124
3.Huifang Yan*; Shuyan Yang*; Yiming Hou; Saima Ali; Adrian Escobar; Kai Gao; Ruoyu Duan; Thomas Kubisiak; Junyu Wang; Yu Zhang; Jiangxi Xiao; Yuwu Jiang; Ting Zhang; Ye Wu; Margit Burmeister; Qiang Wang; Math P. Cuajungco#; Jingmin Wang#; Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy, Cells, 2022, 11(8): 128
4.Huifang Yan*; Haoran Ji*; Thomas Kubisiak; Ye Wu; Jiangxi Xiao; Qiang Gu; Yanling Yang; Han Xie; Taoyun Ji; Kai Gao; Dongxiao Li; Hui Xiong; Zhen Shi; Ming Li; Yuehua Zhang; Ruoyu Duan; Xinhua Bao; Yuwu Jiang; Margit Burmeister#; Jingmin Wang#; Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing, Journal of Human Genetics, 2021, 66(8): 761-768.
5.Huifang Yan*; Guy Helman*; Swetha E Murthy; Haoran Ji; Joanna Crawford; Thomas Kubisiak; Stephen J Bent; Jiangxi Xiao; Ryan J Taft; Adam Coombs; Ye Wu; Ana Pop; Dongxiao Li; Linda S de Vries; Yuwu Jiang; Gajja S Salomons; Marjo S van der Knaap; Ardem Patapoutian; Cas Simons#; Margit Burmeister#; Jingmin Wang#; Nicole I Wolf#; Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy, American Journal of Human Genetics, 2019, 105(5): 996-1004.
6.Huifang Yan*; Thomas Kubisiak; Haoran Ji; Jiangxi Xiao; Jingmin Wang#; Margit Burmeister#; The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot, Brain, 2018, 141(5): e36.
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