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De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. Okur V, et al. Among authors: zhang tj. NPJ Genom Med. 2021 Dec 7;6(1):104. doi: 10.1038/s41525-021-00268-8. NPJ Genom Med. 2021. PMID: 34876591 Free PMC article.
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
Li Z, Zhao S, Cai S, Zhang Y, Wang L, Niu Y, Li X, Hu J, Chen J, Wang S, Wang H, Liu G, Tian Y, Wu Z, Zhang TJ; DISCO (Deciphering Disorders Involving Scoliosis and COmorbidities) study; Wang Y, Wu N. Li Z, et al. Among authors: zhang tj, zhang y. BMC Musculoskelet Disord. 2020 Apr 11;21(1):220. doi: 10.1186/s12891-020-03229-x. BMC Musculoskelet Disord. 2020. PMID: 32278351 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.
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. 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.
Variants Affecting the C-Terminal of CSF1R Cause Congenital Vertebral Malformation Through a Gain-of-Function Mechanism.
Liu B, Zhao S, Yan Z, Zhao L, Lin J, Wang S, Niu Y, Li X, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Zhang TJ, Wu Z, Wu N. Liu B, et al. Among authors: zhang tj. Front Cell Dev Biol. 2021 Mar 19;9:641133. doi: 10.3389/fcell.2021.641133. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33816491 Free PMC article.
Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature.
Gui B, Yu C, Li X, Zhao S, Zhao H, Yan Z, Cheng X, Lin J, Zheng H, Shao J, Zhao Z, Zhao L, Niu Y, Zhao Z, Wang H, Xie B, Wei X, Gui C, Li C, Chen S, Wang Y, Song Y, Gong C, Zhang TJ, Fan X, Wu Z, Chen Y, Wu N. Gui B, et al. Among authors: zhang tj. Front Cell Dev Biol. 2021 Apr 14;9:661747. doi: 10.3389/fcell.2021.661747. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33937263 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: zhang tj, zhang z, zhang y. 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: zhang n, zhang tj, zhang y. 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.
362 results