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Analysis of head and neck carcinoma progression reveals novel and relevant stage-specific changes associated with immortalisation and malignancy.
Veeramachaneni R, Walker T, Revil T, Weck A, Badescu D, O'Sullivan J, Higgins C, Elliott L, Liloglou T, Risk JM, Shaw R, Hampson L, Hampson I, Dearden S, Woodwards R, Prime S, Hunter K, Parkinson EK, Ragoussis J, Thakker N. Veeramachaneni R, et al. Sci Rep. 2019 Aug 19;9(1):11992. doi: 10.1038/s41598-019-48229-7. Sci Rep. 2019. PMID: 31427592 Free PMC article.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study; Woolf AS, Banka S. Cuvertino S, et al. Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006. Am J Hum Genet. 2017. PMID: 29220674 Free PMC article.
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
Mitchell K, O'Sullivan J, Missero C, Blair E, Richardson R, Anderson B, Antonini D, Murray JC, Shanske AL, Schutte BC, Romano RA, Sinha S, Bhaskar SS, Black GC, Dixon J, Dixon MJ. Mitchell K, et al. Am J Hum Genet. 2012 Jan 13;90(1):69-75. doi: 10.1016/j.ajhg.2011.11.013. Epub 2011 Dec 22. Am J Hum Genet. 2012. PMID: 22197488 Free PMC article.
Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome.
Huson SM, Staab T, Pereira M, Ward H, Paredes R, Evans DG, Baumhoer D, O'Sullivan J, Cheesman E, Schindler D, Meyer S. Huson SM, et al. Fam Cancer. 2022 Jan;21(1):85-90. doi: 10.1007/s10689-020-00221-1. Epub 2020 Nov 21. Fam Cancer. 2022. PMID: 33219493 Free PMC article.
1,864 results