吴南，1986年生，籍贯山东蓬莱，北京协和医院骨科副主任医师，青年工作部部长，博士生导师，中国医学科学院脊柱畸形大数据研究与应用重点实验室主任，受国家自然科学基金委优青、北京市杰青资助。毕业于北京协和医学院临床医学八年制博士专业，从事外科医学研究。2017年进入美国贝勒医学院分子和人类遗传学系进行博士后研究工作，临床专注于脊柱畸形的精准诊断及治疗，主要研究方向是骨骼疾病遗传学以及人工智能在骨骼疾病筛、诊、治中的应用。2015年升为主治医师。2020年升为副主任医师。

研究方向为基于多中心、多人种大数据资源，利用先进的遗传学、基因组学及人工智能等方法，探索骨骼畸形尤其是脊柱畸形及相关疾病的病因及机制，分子诊断及精准干预方法，并推动科研成果的临床转化应用。

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, Lindelöf H, Wang S, Hammarsjö 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 Wölffian 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