中国工程院院士，中国医学科学院学术咨询委员会学部委员。现任中国医学科学院基础医学研究所-北京协和医学院基础学院医学遗传学系主任、长聘教授，疑难重症及罕见病全国重点实验室PI。

主要从事罕见病致病基因研究，发现家族性反常性痤疮和Marie Unna型稀毛症等单基因病的致病基因以及先天性全身多毛症和家族性多发基底细胞癌综合征等基因组病的致病DNA重排。“遗传病致病基因和致病基因组重排的新发现”项目获2014年度国家自然科学二等奖（第一完成人）。

1.  Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X. γ-secretase gene mutations in familial acne inversa. Science 2010, 330(6007):1065.

2.  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, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet 2009, 41(2):228-233.

3.  Sun M, Li N, Dong W, Chen Z, Liu Q, Xu Y, He G, Shi Y, 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 generalized hypertrichosis terminalis with or without gingival hyperplasia. Am J Hum Genet 2009, 84(6):807-813.

4.  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, 80(2):361-371.

5.  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 Syndrome Is Associated with Interchromosomal Insertions Mediated by a Human-Specific Palindrome near SOX3. Am J Hum Genet 2011, 88(6):819-826.

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