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eRAM: encyclopedia of rare disease annotations for precision medicine.
Jia J, An Z, Ming Y, Guo Y, Li W, Liang Y, Guo D, Li X, Tai J, Chen G, Jin Y, Liu Z, Ni X, Shi T. Jia J, et al. Among authors: ming y. Nucleic Acids Res. 2018 Jan 4;46(D1):D937-D943. doi: 10.1093/nar/gkx1062. Nucleic Acids Res. 2018. PMID: 29106618 Free PMC article.
PedAM: a database for Pediatric Disease Annotation and Medicine.
Jia J, An Z, Ming Y, Guo Y, Li W, Li X, Liang Y, Guo D, Tai J, Chen G, Jin Y, Liu Z, Ni X, Shi T. Jia J, et al. Among authors: ming y. Nucleic Acids Res. 2018 Jan 4;46(D1):D977-D983. doi: 10.1093/nar/gkx1049. Nucleic Acids Res. 2018. PMID: 29126123 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: ming 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
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group; Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics; Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G. Liu J, et al. Among authors: ming y. Genet Med. 2019 Jul;21(7):1548-1558. doi: 10.1038/s41436-018-0377-x. Epub 2019 Jan 14. Genet Med. 2019. PMID: 30636772 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: ming y. 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.
Genetic Polymorphism of LBX1 Is Associated With Adolescent Idiopathic Scoliosis in Northern Chinese Han Population.
Liu S, Wu N, Zuo Y, Zhou Y, Liu J, Liu Z, Chen W, Liu G, Chen Y, Chen J, Lin M, Zhao Y, Ming Y, Yuan T, Li X, Xia Z, Yang X, Ma Y, Zhang J, Shen J, Li S, Wang Y, Zhao H, Yu K, Zhao Y, Weng X, Qiu G, Wu Z. Liu S, et al. Among authors: ming y. Spine (Phila Pa 1976). 2017 Aug 1;42(15):1125-1129. doi: 10.1097/BRS.0000000000002111. Spine (Phila Pa 1976). 2017. PMID: 28187071
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.
Chen Z, Zheng Y, Yang Y, Huang Y, Zhao S, Zhao H, Yu C, Dong X, Zhang Y, Wang L, Zhao Z, Wang S, Yang Y, Ming Y, Su J, Qiu G, Wu Z, Zhang TJ, Wu N. Chen Z, et al. Among authors: ming y. Am J Hum Genet. 2022 Feb 3;109(2):270-281. doi: 10.1016/j.ajhg.2021.12.008. Epub 2022 Jan 20. Am J Hum Genet. 2022. PMID: 35063063 Free PMC article.
Association between ADAMTS-4 gene polymorphism and lumbar disc degeneration in Chinese Han population.
Liu S, Wu N, Liu J, Liu H, Su X, Liu Z, Zuo Y, Chen W, Liu G, Chen Y, Ming Y, Yuan T, Li X, Chen J, Xia Z, Wang S, Chen J, Liu T, Yang X, Ma Y, Zhang J, Shen J, Li S, Wang Y, Zhao H, Yu K, Zhao Y, Huang S, Weng X, Qiu G, Wan C, Zhou G, Wu Z. Liu S, et al. Among authors: ming y. J Orthop Res. 2016 May;34(5):860-4. doi: 10.1002/jor.23081. Epub 2015 Nov 23. J Orthop Res. 2016. PMID: 26495885 Free article.
973 results