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Year Number of Results
2019 4
2020 5
2021 5
2022 3
2024 1

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15 results

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Page 1
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Lupski JR, Posey JE, Chen S, Gong C, Wu N. Fan X, et al. J Genet Genomics. 2021 May 20;48(5):396-402. doi: 10.1016/j.jgg.2021.02.008. Epub 2021 Mar 22. J Genet Genomics. 2021. PMID: 34006472
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Ma C, Chen N, Jolly A, Zhao S, Coban-Akdemir Z, Tian W, Kang J, Ye Y, Wang Y, Koch A, Zhang Y, Qin C, Bonilla X, Borel C, Rall K, Chen Z, Jhangiani S, Niu Y, Li X, Qiu G, Zhang S, Luo G, Wu Z, Bacopoulou F, Deligeoroglou E, Zhang TJ, Rosenberg C, Gibbs RA, Dietrich JE, Dimas AS, Liu P, Antonarakis SE, Brucker SY, Posey JE, Lupski JR, Wu N, Zhu L; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) Study Group. Ma C, et al. Genet Med. 2022 Nov;24(11):2262-2273. doi: 10.1016/j.gim.2022.08.012. Epub 2022 Sep 16. Genet Med. 2022. PMID: 36112137 Free article.
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
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. Zhao S, et al. NPJ Genom Med. 2022 Feb 15;7(1):11. doi: 10.1038/s41525-021-00273-x. NPJ Genom Med. 2022. PMID: 35169139 Free PMC article.
Identification of novel FBN1 variations implicated in congenital scoliosis.
Lin M, Zhao S, Liu G, Huang Y, Yu C, Zhao Y, Wang L, Zhang Y, Yan Z, Wang S, Liu S, Liu J, Ye Y, Chen Y, Yang X, Tong B, Wang Z, Yang X, Niu Y, Li X, Wang Y, Su J, Yuan J, Zhao H, Zhang S, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Ikegawa S, Zhang J, Wu Z, Wu N. Lin M, et al. J Hum Genet. 2020 Mar;65(3):221-230. doi: 10.1038/s10038-019-0698-x. Epub 2019 Dec 11. J Hum Genet. 2020. PMID: 31827250 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. 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.
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. 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.
Delineation of dual molecular diagnosis in patients with skeletal deformity.
Liu L, Sun L, Chen Y, Wang M, Yu C, Huang Y, Zhao S, Du H, Chen S, Fan X, Tian W, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Qiu G, Zhang TJ, Wu N. Liu L, et al. Orphanet J Rare Dis. 2022 Mar 28;17(1):139. doi: 10.1186/s13023-022-02293-x. Orphanet J Rare Dis. 2022. PMID: 35346302 Free PMC article.
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
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. Zhao S, et al. Nat Commun. 2024 Feb 6;15(1):1125. doi: 10.1038/s41467-024-45442-5. Nat Commun. 2024. PMID: 38321032 Free PMC article.
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
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. Zhao S, et al. J Med Genet. 2021 Jan;58(1):41-47. doi: 10.1136/jmedgenet-2019-106823. Epub 2020 May 7. J Med Genet. 2021. PMID: 32381727 Free PMC article.
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
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. Liu J, et al. Genet Med. 2019 Jul;21(7):1548-1558. doi: 10.1038/s41436-018-0377-x. Epub 2019 Jan 14. Genet Med. 2019. PMID: 30636772 Free PMC article.
15 results