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Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265
Töpf, Ana; Johnson, Katherine; Bates, Adam; Phillips, Lauren; Chao, Katherine R; England, Eleina M; Laricchia, Kristen M; Mullen, Thomas; Valkanas, Elise; Xu, Liwen; Bertoli, Marta; Blain, Alison; Casasús, Ana B; Duff, Jennifer; Mroczek, Magdalena; Specht, Sabine; Lek, Monkol; Ensini, Monica; MacArthur, Daniel G and Straub, Volker (2020). Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genetics in medicine, 22(9), pp. 1478-1488. Springer Nature 10.1038/s41436-020-0840-3
