在研项目：

1、探索MAZ剂量相关染色质空间构象对16p11.2微缺失神经细胞发育异常的贡献，北京市自然基金面上项目，20万，7262005，2026年01月01日-2028年12月31日，支持

2、儿童重大遗传病发病机制及临床干预策略研究，北京市财政项目，2024年1月1日-2026年12月30日，150万，合作主持

 3、MARK2突变通过抑制神经元发育早期的WNT/β-catenin信号通路导致孤独症发生，国家自然基金面上项目，82371868，50万，2024年01月01日-2027年12月31日，主持

近5年发表SCI论著（#第一作者，*通讯作者）

1.        ShaofangShangguan#, XinyuanCui #, JuanjuanLi, NiuLi, RongLiu, Xiaoli Chen*. Alu-mediated FANCD2 exonic deletion contributes to Fanconianaemia. Br J Haematol. 2025 Sep;207(3):1076-1084. doi: 10.1111/bjh.70045.

2.        Maolei Gong#, Jiayi Li#,Zailong Qin#, Matheus Vernet Machado Bressan Wilke#, Yijun Liu, Qian Li ,Haoran Liu, Chen Liang, Joel A Morales-Rosado, Ana S.A. Cohen, Susan S. Hughes,Bonnie R. Sullivan, Valerie Waddell, Marie-José H. van den Boogaard, Richard H.van Jaarsveld, Ellen van Binsbergen, Koen L van Gassen, Tianyun Wang, Susan M.Hiatt, Michelle D. Amaral, Whitley V. Kelley, Jianbo Zhao, Weixing Feng,Changhong Ren, Yazhen Yu, Nicole J Boczek, Matthew J. Ferber, Carrie Lahner,Sherr Elliott, Yiyan Ruan, Mignot Cyril, Boris Keren, Hua Xie, Xiaoyan Wang,Bernt Popp, Christiane Zweier, Juliette Piard, Christine Coubes, Frederic TranMau-Them, Hana Safraou, A. Micheil Innes, Julie Gauthier, Jacques Michaud,Daniel C. Koboldt, Odent Sylvie, Marjolaine Willems, Wen-Hann Tan, BenjaminCogne, Claudine Rieubland, Dominique Braun, Scott Douglas McLean, KonradPlatzer, Pia Zacher, Henry Oppermann, Lucie Evenepoel, Pierre Blanc, Laïla ElKhattabi, Neshatul Haque, Nikita R. Dsouza, Michael T. Zimmermann, RaulUrrutia, Eric W Klee, Yiping Shen, Hongzhen Du, Chang-Mei Liu* and Xiaoli Chen*. MARK2 variants causeautism spectrum disorder viathe downregulation of WNT/β-catenin signalingpathway, Am J Hum Genet ., 2024 Oct 11:S0002-9297(24)00366-5. doi:10.1016/j.ajhg.2024.09.006. Online ahead of print.( JCR Q1, IF=8.1)

3.        Shaofang Shangguan#, XueyuanZhang#, Yangyang Ge, Ye Han, Ling Xiao, Yu Zhang, Hua Xie, Xiaoli Chen*, Xiaoyan Wang*. Confirming the enzymatic activity andneurodevelopmental trajectory of PYCR1 mutation in one child withautosomal-recessive cutis laxa type 2.  MolecularGenetics and Genomics. 2024 Aug 22;299(1):81. doi:10.1007/s00438-024-02173-y. (JCR Q3, IF=2.3)

4.        Ye Han#, Yangyang Ge#, HaoranLiu, Liying Liu, Lina Xie, Xiaoli Chen*,Qian Chen*. A novel compound heterozygous mutation of UFC1 in a patient withneurodevelopmental disorder. Genes & Genomics, 2024Sep;46(9):1037-1043. doi: 10.1007/s13258-024-01543-5. (JCR Q3, IF=1.6)

5.        QingmingWang#, Ye Han#, Xinlong Zhou, ShuangXi Cheng, Xin Wang, Xiaoli Chen*,Haiming Yuan*. RNASEH2C c.194G>A is a Chinese-specific founder mutation inthree unrelated patients with Aicardi-Goutières syndrome 3. ClinGenet. 2023 Aug;104(2):259-265. doi: 10.1111/cge.14343. Epub 2023 Apr24.IF=4.2, Q2

6.        HuiYin#, Hua Xie#, Jizhen Zou, Xue Ye, Ying Liu, CaiHe, Shaofang Shangguan, Haoran Liu, Xiaoli Chen*, Xiaobo Chen*. A mosaickaryotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integratinghigh-throughput sequencing with cytogenetic technique for precise diagnosis andgenetic counselling. BMC Pediatr. 2023 Mar 4;23(1):104.doi: 10.1186/s12887-023-03872-y. IF= 2.567,Q3

7.        FangLiu, Chen Liang, Zhengchang Li, Sen Zhao, Haiming Yuan, Ruen Yao, Zailong Qin,Shaofang Shangguan, Shujie Zhang, Li-Ping Zou, Qian Chen, Zhijie Gao, SuiwenWen, Jing Peng, Fei Yin, Fei Chen, Xiaoxia Qiu, Jingsi Luo, Yingjun Xie, DianLu, Yu Zhang, Hua Xie, Guozhuang Li, Terry Jianguo Zhang, Pengfei Luan,Hongying Wang, Xiaodai Cui, Hailiang Huang, Ruize Liu, Xiaofang Sun, Chao Chen,Nan Wu, Jian Wang, Chunyu Liu, Yiping Shen, James F. Gusella, Xiaoli Chen*.Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variableneurodevelopment. Brain,2023 Aug 1;146(8):3347-3363. doi: 10.1093/brain/awad071.. IF=15, Q1.

8.        HuaXie#, Hui Yin#, Xue Ye, Ying Liu, Na Liu, Yu Zhang, Xiaoli Chen*, XiaoboChen*, Detection of small CYP11B1 deletions and one founder chimericCYP11B2/CYP11B1 gene in 11β-hydroxylase deficiency. Front. Endocrinol., 2022May 24;13:882863. doi: 10.3389/fendo.2022.882863. IF=6.05 Q1,

9.        YuTian#, Hua Xie#, Shenghai Yang, Shaofang Shangguan, Jianhong Wang, Chunhua Jin,Yu Zhang, Xiaodai Cui, Yanyu Lyu, Xiaoli Chen*, Lin Wang*. PossibleCatch-Up Developmental Trajectories for Children with Mild Developmental DelayCaused by NAA15 Pathogenic Variants. Genes (Basel).2022;13(3):536. doi:10.3390/genes13030536.IF=4.14, Q2

10.    LiyingLiu#, Fang Liu#, Qiuhong Wang, Hua Xie, Zhengchang Li, Qian Lu, Yangyang Wang,Mengna Zhang, Yu Zhang, Jonathan Picker, Xiaodai Cui, Liping Zou, XiaoliChen*. Confirming the contribution and genetic spectrum of de novo mutationin infantile spasms: Evidence from a Chinese cohort. Mol Genet Genomic Med. 2021Jun;9(6):e1689. doi: 10.1002/mgg3.1689. Epub 2021 May 5. IF=2.87, Q3

11.    HaimingYuan#, Shaofang Shangguan#, ZhengchangLi#, Jingsi Luo#, Jiasun Su#, Ruen Yao, Shun Zhang, Chen Liang, Qian Chen, Zhijie Gao, Yanli Zhu, Shujie Zhang, WeiLi, Weiliang Lu, Yu Zhang, Hua Xie, Fang Liu,Qingming Wang, Yangyang Lin, Liying Liu, XiumingWang, Liyang Liang, Jianmin Zhong, Haibo Li, Haiyan Qiu, Huifeng Zhang, MeiYan, Maimaiti Mireguli, Yanhui Liu, Dan Zhang, Hongying Wang, Haitao Lv, BoboXie, Chunrong Gui, Xiaodai Cui, Liping Zou, Jian Wang, James F. Gusella, YipingShen*, Xiaoli Chen*. CNV profiles of Chinese pediatric patients withdevelopmental disorders. Genet Med. 2021 Apr;23(4):669-678.doi: 10.1038/s41436-020-01048-y. Epub 2021 Jan 5. IF=8.9, Q1

2014年入选北京市百千万工程领军人才，2014年入选北京市卫生系统215高层次人才“学术骨干”称号，2015年入选北京市高创人才计划领军人才（G01050004）。