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Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Liu F, Liang C, Li Z, Zhao S, Yuan H, Yao R, Qin Z, Shangguan S, Zhang S, Zou LP, Chen Q, Gao Z, Wen S, Peng J, Yin F, Chen F, Qiu X, Luo J, Xie Y, Lu D, Zhang Y, Xie H, Li G, Zhang TJ, Luan P, Wang H, Cui X, Huang H, Liu R, Sun X, Chen C, Wu N, Wang J, Liu C, Shen Y, Gusella JF, Chen X. Liu F, et al. Among authors: zhang tj, zhang s, zhang y. Brain. 2023 Aug 1;146(8):3347-3363. doi: 10.1093/brain/awad071. Brain. 2023. PMID: 36869767
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.
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.
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.
Novel FGFR1 Variants Are Associated with Congenital Scoliosis.
Wang S, Chai X, Yan Z, Zhao S, Yang Y, Li X, Niu Y, Lin G, Su Z, Wu Z, Zhang TJ, Wu N. Wang S, et al. Among authors: zhang tj. Genes (Basel). 2021 Jul 24;12(8):1126. doi: 10.3390/genes12081126. Genes (Basel). 2021. PMID: 34440300 Free PMC article.
362 results