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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: upstill goddard r. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Quantifying the cumulative effect of low-penetrance genetic variants on breast cancer risk.
Smyth C, Špakulová I, Cotton-Barratt O, Rafiq S, Tapper W, Upstill-Goddard R, Hopper JL, Makalic E, Schmidt DF, Kapuscinski M, Fliege J, Collins A, Brodzki J, Eccles DM, MacArthur BD. Smyth C, et al. Mol Genet Genomic Med. 2015 May;3(3):182-8. doi: 10.1002/mgg3.129. Epub 2015 Jan 14. Mol Genet Genomic Med. 2015. PMID: 26029704 Free PMC article.
Epithelial-to-Mesenchymal Transition Supports Ovarian Carcinosarcoma Tumorigenesis and Confers Sensitivity to Microtubule Targeting with Eribulin.
Ho GY, Kyran EL, Bedo J, Wakefield MJ, Ennis DP, Mirza HB, Vandenberg CJ, Lieschke E, Farrell A, Hadla A, Lim R, Dall G, Vince JE, Chua NK, Kondrashova O, Upstill-Goddard R, Bailey UM, Dowson S, Roxburgh P, Glasspool RM, Bryson G, Biankin AV; Scottish Genomes Partnership; Cooke SL, Ratnayake G, McNally O, Traficante N; Australian Ovarian Cancer Study12,13; DeFazio A, Weroha SJ, Bowtell DD, McNeish IA, Papenfuss AT, Scott CL, Barker HE. Ho GY, et al. Among authors: upstill goddard r. Cancer Res. 2022 Dec 2;82(23):4457-4473. doi: 10.1158/0008-5472.CAN-21-4012. Cancer Res. 2022. PMID: 36206301 Free PMC article.
38 results