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Ercan, Ayse Bahar; Aronson, Melyssa; Fernandez, Nicholas R; Chang, Yuan; Levine, Adrian; Liu, Zhihui Amy; Negm, Logine; Edwards, Melissa; Bianchi, Vanessa; Stengs, Lucie; Chung, Jiil; Al-Battashi, Abeer; Reschke, Agnes; Lion, Alex; Ahmad, Alia; Lassaletta, Alvaro; Reddy, Alyssa T; Al-Darraji, Amir F; Shah, Amish C; Van Damme, An; ... (2024). Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study. The Lancet. Oncology, 25(5), pp. 668-682. Elsevier 10.1016/S1470-2045(24)00026-3
Kolodziejczak, Anna S; Guerrini-Rousseau, Lea; Planchon, Julien Masliah; Ecker, Jonas; Selt, Florian; Mynarek, Martin; Obrecht, Denise; Sill, Martin; Autry, Robert J; Zhao, Eric; Hirsch, Steffen; Amouyal, Elsa; Dufour, Christelle; Ayrault, Olivier; Torrejon, Jacob; Waszak, Sebastian M; Ramaswamy, Vijay; Pentikainen, Virve; Demir, Haci Ahmet; Clifford, Steven C; ... (2023). Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome. Neuro-Oncology, 25(12), pp. 2273-2286. Oxford University Press 10.1093/neuonc/noad114
Hebert, Robyn; Cullinan, Noelle; Armstrong, Linlea; Blood, Katherine A; Brossard, Josee; Brunga, Ledia; Cacciotti, Chantel; Caswell, Kimberly; Cellot, Sonia; Coltin, Hallie; Deyell, Rebecca J; Felton, Kathleen; Fernandez, Conrad V; Fleming, Adam J; Gibson, Paul; Hammad, Rawan; Jabado, Nada; Johnston, Donna L; Lafay-Cousin, Lucie; Larouche, Valérie; ... (2023). Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes. Journal of medical genetics, 60(12), pp. 1218-1223. BMJ Publishing Group 10.1136/jmg-2023-109376
Goudie, Catherine; Witkowski, Leora; Cullinan, Noelle; Reichman, Lara; Schiller, Ian; Tachdjian, Melissa; Armstrong, Linlea; Blood, Katherine A; Brossard, Josée; Brunga, Ledia; Cacciotti, Chantel; Caswell, Kimberly; Cellot, Sonia; Clark, Mary Egan; Clinton, Catherine; Coltin, Hallie; Felton, Kathleen; Fernandez, Conrad V; Fleming, Adam J; Fuentes-Bolanos, Noemi; ... (2021). Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes. JAMA oncology, 7(12), pp. 1806-1814. American Medical Association 10.1001/jamaoncol.2021.4536
Waszak, Sebastian M; Northcott, Paul A; Buchhalter, Ivo; Robinson, Giles W; Sutter, Christian; Groebner, Susanne; Grund, Kerstin B; Brugières, Laurence; Jones, David T W; Pajtler, Kristian W; Morrissy, A Sorana; Kool, Marcel; Sturm, Dominik; Chavez, Lukas; Ernst, Aurelie; Brabetz, Sebastian; Hain, Michael; Zichner, Thomas; Segura-Wang, Maia; Weischenfeldt, Joachim; ... (2018). Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Lancet oncology, 19(6), pp. 785-798. Elsevier 10.1016/S1470-2045(18)30242-0
