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The clinical impact of copy number variants in inherited bone marrow failure syndromes.
Waespe N, Dhanraj S, Wahala M, Tsangaris E, Enbar T, Zlateska B, Li H, Klaassen RJ, Fernandez CV, Cuvelier GDE, Wu JK, Pastore YD, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti MJ, Breakey VR, Jardine L, Goodyear L, Kofler L, Cada M, Sung L, Shago M, Scherer SW, Dror Y. Waespe N, et al. NPJ Genom Med. 2017 May 10;2:18. doi: 10.1038/s41525-017-0019-2. NPJ Genom Med. 2017. PMID: 28690869 Free PMC article.
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N, Steele M, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y. Arbiv OA, et al. Among authors: waespe n. Clin Genet. 2018 Feb;93(2):320-328. doi: 10.1111/cge.13158. Epub 2017 Dec 27. Clin Genet. 2018. PMID: 29044489
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: waespe n. J Med Genet. 2023 Nov 27;60(12):1218-1223. doi: 10.1136/jmg-2023-109376. J Med Genet. 2023. PMID: 37460202
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: waespe n. JAMA Oncol. 2021 Dec 1;7(12):1806-1814. doi: 10.1001/jamaoncol.2021.4536. JAMA Oncol. 2021. PMID: 34617981 Free PMC article.
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