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Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.
Tian W, Huang Y, Sun L, Guo Y, Zhao S, Lin M, Dong X, Zhong W, Yin Y, Chen Z, Zhang N, Zhang Y, Wang L, Lin J, Yan Z, Yang X, Zhao J, Qiu G, Zhang J, Wu Z, Wu N; (Deciphering Disorders Involving Scoliosis, COmorbidities) study group. Tian W, et al. Among authors: zhang n, zhang j, zhang y. Orphanet J Rare Dis. 2020 Oct 14;15(1):288. doi: 10.1186/s13023-020-01572-9. Orphanet J Rare Dis. 2020. PMID: 33054853 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: zhang n, zhang f, zhang j, zhang y. 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.
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: zhang j, zhang y. Curr Gene Ther. 2019;19(4):242-247. doi: 10.2174/1566523219666190924120307. Curr Gene Ther. 2019. PMID: 31549955
A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Wu Z, Wu N. Shao J, et al. Among authors: zhang j, zhang y. BMC Med Genet. 2020 May 27;21(1):115. doi: 10.1186/s12881-020-01040-y. BMC Med Genet. 2020. PMID: 32460719 Free PMC article.
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: zhang tj, zhang y. 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.
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
Lin M, Liu Z, Liu G, Zhao S, Li C, Chen W, Coban Akdemir Z, Lin J, Song X, Wang S, Xu Q, Zhao Y, Wang L, Zhang Y, Yan Z, Liu S, Liu J, Chen Y, Zuo Y, Yang X, Sun T, Yang XZ, Niu Y, Li X, You W, Qiu B, Ding C, Liu P, Zhang S, Carvalho CMB, Posey JE, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Lupski JR, Wu Z, Zhang J, Wu N. Lin M, et al. Among authors: zhang s, zhang j, zhang y. Mol Genet Genomic Med. 2020 Jan;8(1):e1023. doi: 10.1002/mgg3.1023. Epub 2019 Nov 27. Mol Genet Genomic Med. 2020. PMID: 31774634 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. Among authors: zhang s, zhang j, zhang y. 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.
Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
Ren X, Yang N, Wu N, Xu X, Chen W, Zhang L, Li Y, Du RQ, Dong S, Zhao S, Chen S, Jiang LP, Wang L, Zhang J, Wu Z, Jin L, Qiu G, Lupski JR, Shi J, Zhang F, Liu P. Ren X, et al. Among authors: zhang l, zhang f, zhang j. J Med Genet. 2020 Jun;57(6):371-379. doi: 10.1136/jmedgenet-2019-106333. Epub 2019 Dec 30. J Med Genet. 2020. PMID: 31888956 Free PMC article.
Whole-Genome Methylation Analysis of Phenotype Discordant Monozygotic Twins Reveals Novel Epigenetic Perturbation Contributing to the Pathogenesis of Adolescent Idiopathic Scoliosis.
Liu G, Wang L, Wang X, Yan Z, Yang X, Lin M, Liu S, Zuo Y, Niu Y, Zhao S, Zhao Y, Zhang J, Shen J, Wang Y, Qiu G, Wu Z, Wu N. Liu G, et al. Among authors: zhang j. Front Bioeng Biotechnol. 2019 Dec 10;7:364. doi: 10.3389/fbioe.2019.00364. eCollection 2019. Front Bioeng Biotechnol. 2019. PMID: 31921798 Free PMC article.
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