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Mutational burden and potential oligogenic model of TBX6-mediated genes in congenital scoliosis.
Yang Y, Zhao S, Zhang Y, Wang S, Shao J, Liu B, Li Y, Yan Z, Niu Y, Li X, Wang L, Ye Y, Weng X, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Zhang J, Wu N. Yang Y, et al. Among authors: li y, li x. Mol Genet Genomic Med. 2020 Oct;8(10):e1453. doi: 10.1002/mgg3.1453. Epub 2020 Aug 20. Mol Genet Genomic Med. 2020. PMID: 32815649 Free PMC article.
Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).
Wang K, Zhao S, Liu B, Zhang Q, Li Y, Liu J, Shen Y, Ding X, Lin J, Wu Y, Yan Z, Chen J, Li X, Song X, Niu Y, Liu J, Chen W, Ming Y, Du R, Chen C, Long B, Zhang Y, Tong X, Zhang S, Posey JE, Zhang B, Wu Z, Wythe JD, Liu P, Lupski JR, Yang X, Wu N. Wang K, et al. Among authors: li y, li x. J Med Genet. 2018 Oct;55(10):675-684. doi: 10.1136/jmedgenet-2017-105224. Epub 2018 Aug 17. J Med Genet. 2018. PMID: 30120215 Free PMC article.
The Progress of CRISPR/Cas9-Mediated Gene Editing in Generating Mouse/Zebrafish Models of Human Skeletal Diseases.
Wu N, Liu B, Du H, Zhao S, Li Y, Cheng X, Wang S, Lin J, Zhou J; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Qiu G, Wu Z, Zhang J. Wu N, et al. Among authors: li y. Comput Struct Biotechnol J. 2019 Jun 13;17:954-962. doi: 10.1016/j.csbj.2019.06.006. eCollection 2019. Comput Struct Biotechnol J. 2019. PMID: 31360334 Free PMC article. Review.
A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations.
Wu N, Wang L, Hu J, Zhao S, Liu B, Li Y, Du H, Zhang Y, Li X, Yan Z, Wang S, Wang Y, Zhang J, Wu Z, Disco Deciphering Disorders Involving Scoliosis Comorbidities Study Group, Qiu G. Wu N, et al. Among authors: li y, li x. Curr Gene Ther. 2019;19(4):242-247. doi: 10.2174/1566523219666190924120307. Curr Gene Ther. 2019. PMID: 31549955
Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis.
Chen Z, Yan Z, Yu C, Liu J, Zhang Y, Zhao S, Lin J, Zhang Y, Wang L, Lin M, Huang Y, Li X, Niu Y, Wang S, Wu Z; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) study group; Qiu G, Zhang TJ, Wu N. Chen Z, et al. Among authors: li x. Orphanet J Rare Dis. 2020 Sep 15;15(1):250. doi: 10.1186/s13023-020-01537-y. Orphanet J Rare Dis. 2020. PMID: 32933559 Free PMC article.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
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 JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L. Chen N, et al. Among authors: li x. Am J Hum Genet. 2021 Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. Am J Hum Genet. 2021. PMID: 33434492 Free PMC article.
Factors and predictive model associated with perioperative complications after long fusion in the treatment of adult non-degenerative scoliosis.
Wu N, Shao J, Zhang Z, Wang S, Li Z, Zhao S, Yang Y, Liu L, Yu C, Liu S, Zhao Z, Du Y, Zhang Y, Wang L, Zhao Y, Yu K, Zhao H, Shen J, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Wu Z, Zhang TJ. Wu N, et al. Among authors: li z. BMC Musculoskelet Disord. 2021 May 25;22(1):483. doi: 10.1186/s12891-021-04361-y. BMC Musculoskelet Disord. 2021. PMID: 34034738 Free PMC article.
Deciphering the mutational signature of congenital limb malformations.
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. Sun L, et al. Among authors: li y, li x, li q. Mol Ther Nucleic Acids. 2021 Apr 20;24:961-970. doi: 10.1016/j.omtn.2021.04.012. eCollection 2021 Jun 4. Mol Ther Nucleic Acids. 2021. PMID: 34094714 Free PMC article.
The utility of hierarchical genetic testing in paediatric liver disease.
Wang F, Li Y, Zhao S, Chen Z, Xu Z, Wang L, Zhang TJ, Yan J, Cao L, Wang P, Li A, Zhong Y, Wu Z, Qi X, Zhang M, Wu N. Wang F, et al. Among authors: li y, li a. Liver Int. 2022 May;42(5):1097-1108. doi: 10.1111/liv.15235. Epub 2022 Mar 21. Liver Int. 2022. PMID: 35257483
Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients.
Lin D, Du H, Zhao S, Liu B, Song H, Wang G, Zhang W, Liang H, Liu P, Liu C, Han W, Li Z, Yang Y, Chen S, Zhao L, Li X, Wu Z; DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) study group; Sun N, Wu N. Lin D, et al. Among authors: li z, li x. Orphanet J Rare Dis. 2022 May 23;17(1):209. doi: 10.1186/s13023-022-02334-5. Orphanet J Rare Dis. 2022. PMID: 35606856 Free PMC article.
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