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Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes.
Hebert R, Cullinan N, Armstrong L, Blood KA, Brossard J, Brunga L, Cacciotti C, Caswell K, Cellot S, Coltin H, Deyell RJ, Felton K, Fernandez CV, Fleming AJ, Gibson P, Hammad R, Jabado N, Johnston DL, Lafay-Cousin L, Larouche V, Leblanc-Desrochers C, Michaeli O, Perrier R, Pike M, Say J, Schiller I, Toupin AK, Vairy S, van Engelen K, Waespe N, Villani A, Foulkes WD, Malkin D, Reichman L, Goudie C. Hebert R, et al. Among authors: toupin ak. J Med Genet. 2023 Nov 27;60(12):1218-1223. doi: 10.1136/jmg-2023-109376. J Med Genet. 2023. PMID: 37460202
UBB pseudogene 4 encodes functional ubiquitin variants.
Dubois ML, Meller A, Samandi S, Brunelle M, Frion J, Brunet MA, Toupin A, Beaudoin MC, Jacques JF, Lévesque D, Scott MS, Lavigne P, Roucou X, Boisvert FM. Dubois ML, et al. Among authors: toupin a. Nat Commun. 2020 Mar 11;11(1):1306. doi: 10.1038/s41467-020-15090-6. Nat Commun. 2020. PMID: 32161257 Free PMC article.
Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes.
Goudie C, Witkowski L, Cullinan N, Reichman L, Schiller I, Tachdjian M, Armstrong L, Blood KA, Brossard J, Brunga L, Cacciotti C, Caswell K, Cellot S, Clark ME, Clinton C, Coltin H, Felton K, Fernandez CV, Fleming AJ, Fuentes-Bolanos N, Gibson P, Grant R, Hammad R, Harrison LW, Irwin MS, Johnston DL, Kane S, Lafay-Cousin L, Lara-Corrales I, Larouche V, Mathews N, Meyn MS, Michaeli O, Perrier R, Pike M, Punnett A, Ramaswamy V, Say J, Somers G, Tabori U, Thibodeau ML, Toupin AK, Tucker KM, van Engelen K, Vairy S, Waespe N, Warby M, Wasserman JD, Whitlock JA, Sinnett D, Jabado N, Nathan PC, Shlien A, Kamihara J, Deyell RJ, Ziegler DS, Nichols KE, Dendukuri N, Malkin D, Villani A, Foulkes WD. Goudie C, et al. Among authors: toupin ak. JAMA Oncol. 2021 Dec 1;7(12):1806-1814. doi: 10.1001/jamaoncol.2021.4536. JAMA Oncol. 2021. PMID: 34617981 Free PMC article.
Development and validation of a liquid chromatography-tandem mass spectrometry assay to quantify plasma 24(S)-hydroxycholesterol and 27-hydroxycholesterol: A new approach integrating the concept of ion ratio.
Rojas D, Benachenhou S, Laroui A, Aden AA, Abolghasemi A, Galarneau L, Irakoze TJ, Plantefeve R, Bouhour S, Toupin A, Corbin F, Fink G, Mallet PL, Çaku A. Rojas D, et al. Among authors: toupin a. J Steroid Biochem Mol Biol. 2023 Dec;235:106408. doi: 10.1016/j.jsbmb.2023.106408. Epub 2023 Oct 6. J Steroid Biochem Mol Biol. 2023. PMID: 37806531 Free article.
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