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Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations.
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. Feng X, et al. Among authors: lin x, lin m. Proc Natl Acad Sci U S A. 2024 Apr 30;121(18):e2310283121. doi: 10.1073/pnas.2310283121. Epub 2024 Apr 26. Proc Natl Acad Sci U S A. 2024. PMID: 38669183 Free PMC article.
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study; Zhang F, Wu Z, Lupski JR, Wu N. Liu J, et al. Among authors: lin m. Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17. Hum Genet. 2018. PMID: 30019117 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. Among authors: lin m. 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.
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, 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 MR, Posey JE, Qiu G, Rios JJ, Liu P, Wise CA, Zhang F, Wu Z, Lupski JR, Wu N. Chen W, et al. Among authors: lin j, lin m. Hum Mutat. 2020 Jan;41(1):182-195. doi: 10.1002/humu.23907. Epub 2019 Sep 26. Hum Mutat. 2020. PMID: 31471994 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.
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. Among authors: lin j, lin g, lin m. 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.
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: lin m. 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.
Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism.
Zhu Q, Wu N, Liu G, Zhou Y, Liu S, Chen J, Liu J, Zuo Y, Liu Z, Chen W, Chen Y, Chen J, Lin M, Zhao Y, Yang Y, Wang S, Yang X, Ma Y, Wang J, Chen X, Zhang J, Shen J, Wu Z, Qiu G. Zhu Q, et al. Among authors: lin m. J Cell Mol Med. 2018 Jan;22(1):533-545. doi: 10.1111/jcmm.13341. Epub 2017 Sep 25. J Cell Mol Med. 2018. PMID: 28944995 Free PMC article.
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