Members of DISCO are dedicated to uncovering risk factors and potential pathogenic mechanisms of scoliosis. Based on these findings, they aim to develop more effective clinical diagnostic strategies and intervention methods.

代表性文章

完整文章列表请于PubMed检索:
 ((((Nan Wu[Author]) OR Zhihong Wu[Author]) OR Guixing Qiu[Author])) AND peking union medical college hospital

  1. Feng X#, Ye Y#, Zhang J#, Zhang Y, Zhao S, Mak JCW, Otomo N, Zhao Z, Niu Y, Yonezawa Y, Li G, Lin M, Li X, Cheung PWH, Xu K, Takeda K, Wang S, Xie J, Kotani T, Choi VNT, Song YQ, Yang Y, Luk KDK, Lee KS, Li Z, Li PS, Leung CYH, Lin X, Wang X, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) study group; Watanabe K; Japanese Early Onset Scoliosis Research Group; Wu Z, Posey JE, Ikegawa S, Lupski JR, Cheung JPY*, Zhang TJ*, Gao B*, Wu N*. Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations. Proc Natl Acad Sci U S A. 2024 Apr 30;121(18):e2310283121. (IF=11.1)
  2. Zhao H#, Du H#, Zhao S#, Chen Z, Li Y, Xu K, Liu B, Cheng X, Wen W, Li G, Chen G, Zhao Z, Qiu G; Deciphering Disorders Involving Scoliosis & Comorbidities (DISCO) Study; Liu P, Zhang TJ, Wu Z*, Wu N*. SIGMA leverages protein structural information to predict the pathogenicity of missense variants. Cell Rep Methods. 2024 Jan 22;4(1):100687.
  3. Zhao S#, Zhao H#, Zhao L#, Cheng X#, Zheng Z, Wu M, Wen W, Wang S, Zhou Z, Xie H, Ruan D, Li Q, Liu X, Ou C, Li G, Zhao Z, Chen G, Niu Y, Yin X, Hu Y, Zhang X; Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study; Liu P, Qiu G, Liu W, Zhao C, Wu Z*, Zhang J*, Wu N*. Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine. Nat Commun. 2024 Feb 6;15(1):1125. (IF=16.6)
  4. Wu N#, Ming X#, Xiao J#, Wu Z#, Chen X#, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, 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 KW, 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 VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015 Jan 22;372(4):341-50. (IF=176.1)
  5. Li Q#, Chen Z#, Wang J, Xu K, Fan X, Gong C, Wu Z, Zhang TJ*, Wu N*. Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis. JAMA Pediatr. 2023 Sep 11:e233566. (IF=26.1)
  6. Wu, N#*, Liu, L#, Zhang, Y, Wang, L, Wang, S, Zhao, S, Li, G, Yang, Y, Lin, G, Shen, J, Wu, Z, Qiu, G, & Zhang, T. J*(2023). Retrospective Analysis of Associated Anomalies in 636 Patients with Operatively Treated Congenital Scoliosis. J Bone Joint Surg Am. 2023 Apr 5;105(7):537-548.
  7. 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. Am J Hum Genet. 2022 Feb 3;109(2):270-281. (IF=11.0)
  8. Liu G#, Zhao H#, Yan Z#, Zhao S, Niu Y, Li X, Wang S, Yang Y, Liu S, Zhang TJ, Wu Z, Wu N*. Whole-genome methylation analysis reveals novel epigenetic perturbations of congenital scoliosis. Mol Ther Nucleic Acids. 2021 Feb 10;23:1281-1287. (IF=10.2)
  9. Liu J#, Wu N#*; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Yang N#, Takeda K#, Chen W#, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group, Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics, Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G*. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med. 2019 Jul;21(7):1548-1558.
  10. 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. 2022 Feb 15;7(1):11.
  11. 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). J Med Genet. 2021 Jan;58(1):41-47.