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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. Among authors: wu y, wu n, wu z. 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.
Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).
Wang K, Zhao S, Liu B, Zhang Q, Li Y, Liu J, Shen Y, Ding X, Lin J, Wu Y, Yan Z, Chen J, Li X, Song X, Niu Y, Liu J, Chen W, Ming Y, Du R, Chen C, Long B, Zhang Y, Tong X, Zhang S, Posey JE, Zhang B, Wu Z, Wythe JD, Liu P, Lupski JR, Yang X, Wu N. Wang K, et al. Among authors: wu y, wu n, wu z. J Med Genet. 2018 Oct;55(10):675-684. doi: 10.1136/jmedgenet-2017-105224. Epub 2018 Aug 17. J Med Genet. 2018. PMID: 30120215 Free PMC article.
Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family.
Ding X, Zhao S, Zhang Q, Yan Z, Wang Y, Wu Y, Li X, Liu J, Niu Y, Zhang Y, Zhang M, Wang H, Zhang Y, Chen W, Yang XZ, Liu P, Posey JE, Lupski JR, Wu Z, Yang X, Wu N, Wang K. Ding X, et al. Among authors: wu y, wu n, wu z. J Neurointerv Surg. 2020 Feb;12(2):221-226. doi: 10.1136/neurintsurg-2019-014900. Epub 2019 Aug 10. J Neurointerv Surg. 2020. PMID: 31401562 Free PMC article.
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N, Zhang Z, Zhou X, Zhao H, Ming Y, Wu X, Zhang X, Yang XZ, Zhou M, Bao H, Chen W, Wu Y, Liu S, Wang H, Niu Y, Li Y, Zheng Y, Shao Y, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Li M, Sun Y, Su J, Zhang J, Xia W, Qiu G, Liu Y, Liu J, Wu Z. Wu N, et al. Among authors: wu y, wu x, wu z. J Cell Mol Med. 2020 May;24(9):4931-4943. doi: 10.1111/jcmm.14991. Epub 2020 Apr 11. J Cell Mol Med. 2020. PMID: 32277576 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: wu y, wu n, wu z. 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.
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