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An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.
Sobreira N, Modaff P, Steel G, You J, Nanda S, Hoover-Fong J, Valle D, Pauli RM. Sobreira N, et al. Among authors: you j. Am J Med Genet A. 2015 Jan;167A(1):159-63. doi: 10.1002/ajmg.a.36808. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348816 Free PMC article.
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M; Care for Rare Canada Consortium; Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD. Au PYB, et al. Among authors: you j. Hum Mutat. 2015 Oct;36(10):1009-1014. doi: 10.1002/humu.22837. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26173930 Free PMC article.
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Cananzi M, Wohler E, Marzollo A, Colavito D, You J, Jing H, Bresolin S, Gaio P, Martin R, Mescoli C, Bade S, Posey JE, Dalle Carbonare M, Tung W, Jhangiani SN, Bosa L, Zhang Y, Filho JS, Gabelli M, Kellermayer R, Kader HA, Oliva-Hemker M, Perilongo G, Lupski JR, Biffi A, Valle D, Leon A, de Macena Sobreira NL, Su HC, Guerrerio AL. Cananzi M, et al. Among authors: you j. Hum Genet. 2021 Sep;140(9):1299-1312. doi: 10.1007/s00439-021-02300-4. Epub 2021 Jun 29. Hum Genet. 2021. PMID: 34185153 Free PMC article. Clinical Trial.
Identification of signaling pathways that specify a subset of migrating enteric neural crest cells at the wavefront in mouse embryos.
Zhou B, Feng C, Sun S, Chen X, Zhuansun D, Wang D, Yu X, Meng X, Xiao J, Wu L, Wang J, Wang J, Chen K, Li Z, You J, Mao H, Yang S, Zhang J, Jiao C, Li Z, Yu D, Wu X, Zhu T, Yang J, Xiang L, Liu J, Chai T, Shen J, Mao CX, Hu J, Hao X, Xiong B, Zheng S, Liu Z, Feng J. Zhou B, et al. Among authors: you j. Dev Cell. 2024 Apr 15:S1534-5807(24)00202-8. doi: 10.1016/j.devcel.2024.03.034. Online ahead of print. Dev Cell. 2024. PMID: 38636517
5,320 results