1. 国家重点研发计划：遗传性重要脏器罕见病全生命周期队列建立及遗传模式、致病机制及生物靶向治疗研究（2022-2025）

2. 国家自然科学基金重大项目：罕见病致病基因鉴识、发病机制解析和精准干预探索（2024-2028）

3. 中国医学科学院医学与健康科技创新工程重大协同创新项目：罕见病发病机制及诊疗新技术研究（2016-2024）

4. 国家重点研发计划精准医学研究：重要罕见病的发病机制研究（2016-2020）

5. 中国医学科学院医学与健康科技创新工程服务“一带一路”先导专项任务：人类遗传病研究（2017-2020）

发现家族性反常性痤疮、Marie Unna型遗传性稀毛症、家族性特发性基底节钙化、X-连锁先天性全身多毛综合症、常染色体显性先天性全身终毛增多症、IV型并指（趾）、V型并指（趾）等遗传病的致病基因或遗传缺陷，研究成果分别发表于Science、Nature Genetics、American Journal of Human Genetics、Journal of Medical Genetics和Human Mutation等杂志。

代表性论文：

[1]     Zhang X*. T2T-YAO Reference Genome of Han Chinese - New Step in Advancing Precision Medicine in China. Genomics Proteomics Bioinformatics. 2023 Sep 25. doi: 10.1016/j.gpb.2023.09.001. [IF:9.5]

[2]     Wang P, Zhang S, He G, Du M, Qi C, Liu R, Zhang S, Cheng L*, Shi L*, Zhang X*. microbioTA: an atlas of the microbiome in multiple disease tissues of Homo sapiens and Mus musculus. Nucleic Acids Res. 2023 Jan 6. doi: 10.1093/nar/gkac851. [IF:14.9]

[3]    Cheng L, Qi C, Zhuang H, Fu T, Zhang X.gutMDisorder: a comprehensive database for dysbiosis of the gut microbiota indisorders and interventions. Nucleic Acids Res. 2020 Jan 8;48(D1):D554-D560. doi: 10.1093/nar/gkz843.

[4]    Wang XJ, Lian TY, Jiang X, Liu SF, Li SQ, Jiang R,Wu WH, Ye J, Cheng CY, Du Y, Xu XQ, Wu Y, Peng FH, Sun K, Mao YM, Yu H, LiangC, Shyy JY, Zhang SY, Zhang X, Jing ZC. Germline BMP9 mutation causesidiopathic pulmonary arterial hypertension. Eur Respir J. 2019 Mar14;53(3):1801609. doi: 10.1183/13993003.01609-2018.

[5]    Liu Q, Shu S, Wang RR, Liu F, Cui B, Guo XN, Lu CX,Li XG, Liu MS, Peng B, Cui LY, Zhang X. Whole-exome sequencingidentifies a missense mutation in hnRNPA1 in a family with flail arm ALS. Neurology.2016 Oct 25;87(17):1763-1769. doi: 10.1212/WNL.0000000000003256.

[6]    Lin Z, Chen Q, Shi L, Lee M, Giehl KA, Tang Z, WangH, Zhang J, Yin J, Wu L, Xiao R, Liu X, Dai L, Zhu X, Li R, Betz RC, Zhang X,Yang Y.. Loss-of-function mutations in HOXC13 cause pure hair and nailectodermal dysplasia. Am J Hum Genet. 2012 Nov 2;91(5):906-11. doi:10.1016/j.ajhg.2012.08.029.   

[7]    Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, João OliveiraRM, Sobrido M-J, Quintáns B, Baquero M, Cui X, Zhang X-Y, Wang L, Xu H, Wang J,Jing Yao, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, ForsterIC, Zhang X, Liu J-Y. Mutations in SLC20A2 link familial idiopathicbasal ganglia calcification with phosphate homeostasis. Nat Genet. 2012 Feb12;44(3):254-6. doi: 10.1038/ng.1077.

[8]    Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, LvD, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X. γ-secretase genemutations in familial acne inversa. Science. 2010 Nov 19;330(6007):1065. doi:10.1126/science.1196284.

[9]    Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M,Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nöthen MM, van Steensel MA,van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A,Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, IrvineAD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLeanWH, He CD, Zhang X. Loss-of-function mutations of an inhibitory upstreamORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.Nat Genet. 2009 Feb;41(2):228-33. doi: 10.1038/ng.276.

[10]    Sun M, Li N, Dong W, Chen Z, Liu Q, Xu Y, He G, ShiY, Li X, Hao J, Luo Y, Shang D, Lv D, Ma F, Zhang D, Hua H, Lu C, Wen Y, Cao L,Irvine AD, McLean WHI, Dong Q, Wang MR, Yu J, He L, Lo WHY, Zhang X.Copy number mutations on chromosome 17q24.2-q24.3 in congenital generalizedhypertrichosis terminalis with or without gingival hyperplasia. Am J Hum Genet.2009 Jun;84(6):807-13. doi: 10.1016/j.ajhg.2009.04.018.

[11]    Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W,Zeng X, Ao Y, Liu Q, Liu G, Lo WHY, Jabs EW, Amzel LM, Shan X, Zhang X.Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet. 2007 Feb;80(2):361-71. doi:10.1086/511387.

[12]  Zhu H, Shang D, Sun M, Choi S, Liu Q, Hao J,Figuera LE, Zhang F, Choy KW, Ao Y, Liu Y, Zhang XL, Yue F, Wang MR, Jin L,Patel PI, Jing T, Zhang X. X-Linked Congenital Hypertrichosis SyndromeIs Associated with Interchromosomal Insertions Mediated by a Human-SpecificPalindrome near SOX3. Am J Hum Genet. 2011 Jun 10;88(6):819-826. doi:10.1016/j.ajhg.2011.05.004.