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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: niu y. 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.
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: niu y. 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.
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.
Yu C, Xie B, Zhao Z, Zhao S, Liu L, Cheng X, Li X, Cao B, Shao J, Chen J, Zhao H, Yan Z, Su C, Niu Y, Song Y, Wei L, Wang Y, Ren X, Fan L, Zhang B, Li C, Gui B, Zhang Y, Wang L, Chen S, Zhang J, Wu Z, Gong C, Fan X, Wu N. Yu C, et al. Among authors: niu y. Front Endocrinol (Lausanne). 2021 Sep 13;12:711991. doi: 10.3389/fendo.2021.711991. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34589056 Free PMC article.
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: niu 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.
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. Among authors: niu y. 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
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: niu y. Genes (Basel). 2021 Jul 24;12(8):1126. doi: 10.3390/genes12081126. Genes (Basel). 2021. PMID: 34440300 Free PMC article.
Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients.
Lin D, Du H, Zhao S, Liu B, Song H, Wang G, Zhang W, Liang H, Liu P, Liu C, Han W, Li Z, Yang Y, Chen S, Zhao L, Li X, Wu Z; DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) study group; Sun N, Wu N. Lin D, et al. Orphanet J Rare Dis. 2022 May 23;17(1):209. doi: 10.1186/s13023-022-02334-5. Orphanet J Rare Dis. 2022. PMID: 35606856 Free PMC article.
5,871 results