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協和醫院

  • 姓 名:

    吳南

  • 單 位:

    中國醫學科學院北京協和醫院

  • 教職崗位:

    助理教授

  • 聘任時間:

    2019-07-01

  • 一級學科:

    臨床醫學

  • 二級學科:

    外科學(骨外)

  • 聯系方式:

    dr.wunan@pumch.cn

  • 導師風采鏈接:
    https://yzbss.pumc.edu.cn/basicinfo/tutorinfo/tutordetail/J2012020144

個人簡介

吳南,1986年生,籍貫山東蓬萊,北京協和醫院骨科副主任醫師,青年工作部部長,博士生導師,中國醫學科學院脊柱畸形大數據研究與應用重點實驗室主任,受國家自然科學基金委優青、北京市杰青資助。畢業于北京協和醫學院臨床醫學八年制博士專業,從事外科醫學研究。2017年進入美國貝勒醫學院分子和人類遺傳學系進行博士后研究工作,臨床專注于脊柱畸形的精準診斷及治療,主要研究方向是骨骼疾病遺傳學以及人工智能在骨骼疾病篩、診、治中的應用。2015年升為主治醫師。2020年升為副主任醫師。


主要研究內容

研究方向為基于多中心、多人種大數據資源,利用先進的遺傳學、基因組學及人工智能等方法,探索骨骼畸形尤其是脊柱畸形及相關疾病的病因及機制,分子診斷及精準干預方法,并推動科研成果的臨床轉化應用。


代表性成果

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1. Chen Z#, Zheng Y#, Yang Y#, Huang Y#, Zhao S#, Zhao H, Yu C, Dong X, Zhang Y, Wang L, Zhao Z, Wang S, Yang Y, Ming Y, Su J, Qiu G, Wu Z, Zhang TJ, Wu N*. PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning. American journal of human genetics 109(2), 270–281. (IF=11.03) 2022

2. Zhao S#, Zhang Y#, Hallgrimsdottir S#, Zuo Y#, Li X, Batkovskyte D, Liu S, Lindel?f H, Wang S, Hammarsj? A, Yang Y, Ye Y, Wang L, Yan Z, Lin J, Yu C, Chen Z, Niu Y, Wang H, Zhao Z, Liu P, Qiu G, Posey JE, Wu Z, Lupski JR, Micule I, Anderlid BM, Voss U, Sulander D, Kuchinskaya E, Nordgren A, Nilsson O; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Zhang TJ*, Grigelioniene G*, Wu N*. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ Genom Med. 7(1):11. (IF=8.62) 2022

3. Sun L#, Huang Y#, Zhao S, Zhao J, Yan Z, Guo Y, Lin M, Zhong W, Yin Y, Chen Z, Zhang N, Zhang Y, Zhao Z, Li Q, Wang L, Dong X, Li Y, Li X, Qiu G; DISCO (Deciphering Disorders Involving Scoliosis & Comorbidities) study group, Zhang TJ, Wu Z*, Tian W*, Wu N*. Deciphering the mutational signature of congenital limb malformations. Molecular therapy. Nucleic acids 24:961-970. (IF=8.88) 2021

4. Wang K#, Zhao S#, Xie Z, Zhang M, Zhao H, Cheng X, Zhang Y, Niu Y, Liu J, Zhang TJ, Zhang Y, Wu Z, Chu J*, Yang X*, Wu N*. Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation. Neurology 98(16):e1670-e1678. (IF=9.1) 2022

5. Liu J#, Zhao H#, Huang Y#, Xu S#, Zhou Y, Zhang W, Li J, Ming Y, Wang X, Zhao S, Li K, Dong X, Ma Y, Qian T, Chen X, Xing Z, Zhang Y, Chen H, Liu Z, Pang D, Zhou M, Wu Z, Wang X, Wang X*, Wu N*, Su J*. Genome-wide cell-free DNA methylation analyses improve accuracy of non-invasive diagnostic imaging for early-stage breast cancer. Molecular cancer 20(1): 36. (IF=27.4) 2021

6. Chen N#, Zhao S#, Jolly A#, Wang L#, Pan H#, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey J E, Zhang F, Luo G, Wu Z, Su J, Zhang J, Chen E Y, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs R A, Dietrich J E, Dimas A S, Antonarakis S E, Brucker S Y, Lupski J R, Wu N*, Zhu L*. Perturbations of genes essential for Müllerian duct and W?lffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American journal of human genetics 108(2): 337-345. (IF=11.03) 2021

7. Liu G#, Zhao H#, Yan Z#, Zhao S, Niu Y, Li X, Wang S, Yang Y, Liu S, Zhang T J, Wu Z, Wu N*. Whole-genome methylation analysis reveals novel epigenetic perturbations of congenital scoliosis. Molecular Therapy Nucleic Acids 23:1281-1287. (IF=8.88) 2021

8. Zhao S#, Zhang Y#, Chen W#, Li W#, Wang S#, Wang L, Zhao Y, Lin M, Ye Y, Lin J, Zheng Y, Liu J, Zhao H, Yan Z, Yang Y, Huang Y, Lin G, Chen Z, Zhang Z, Liu S, Jin L, Wang Z, Chen J, Niu Y, Li X, Wu Y, Wang Y, Du R, Gao N, Zhao H, Yang Y, Liu Y, Tian Y, Li W, Zhao Y, Liu J, Yu B, Zhang N, Yu K, Yang X, Li S, Xu Y, Hu J, Liu Z, Shen J, Zhang S, Su J, Khanshour AM, Kidane YH, Ramo B, Rios JJ, Liu P, Sutton VR, Posey JE, Wu Z, Qiu G, Wise CA, Zhang F, Lupski JR, Zhang J*, Wu N*; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) Journal of medical genetics 58(1):41-47. (IF= 6.32) 2021

9. Chen W#, Lin J#, Wang L#, Li X, Zhao S, Liu J, Akdemir Z C, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado M R, Posey J E, Qiu G, Rios J J, Liu P, Wise C A, Zhang F, Wu Z*, Lupski J R*, Wu N*. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Human mutation 41(1):182-195. (IF=4.45) 2020

10.  Wu N#  , Ming X#, Xiao J#, Wu Z#, Chen X#, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev Z S, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy K W, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton V R, Wang H, Ming Y, Kulkarni S, Zhong T P, Giampietro P F, Dunwoodie S L, Cheung S W, Zhang X, Jin L, Lupski J R, Qiu G*, Zhang F*. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. The New England journal of medicine 372(4): 341-350. (IF=55.87, C100, F1000) 2015  


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