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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Lionel AC, et al. Among authors: wasserman jd. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771251 Free PMC article.
Evidence for genetic anticipation in vonHippel-Lindau syndrome.
Aronoff L, Malkin D, van Engelen K, Gallinger B, Wasserman J, Kim RH, Villani A, Meyn MS, Druker H. Aronoff L, et al. J Med Genet. 2018 Jun;55(6):395-402. doi: 10.1136/jmedgenet-2017-104882. Epub 2018 Feb 7. J Med Genet. 2018. PMID: 29437867
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: wasserman jd. JAMA Oncol. 2021 Dec 1;7(12):1806-1814. doi: 10.1001/jamaoncol.2021.4536. JAMA Oncol. 2021. PMID: 34617981 Free PMC article.
Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study.
Castelo-Branco P, Choufani S, Mack S, Gallagher D, Zhang C, Lipman T, Zhukova N, Walker EJ, Martin D, Merino D, Wasserman JD, Elizabeth C, Alon N, Zhang L, Hovestadt V, Kool M, Jones DT, Zadeh G, Croul S, Hawkins C, Hitzler J, Wang JC, Baruchel S, Dirks PB, Malkin D, Pfister S, Taylor MD, Weksberg R, Tabori U. Castelo-Branco P, et al. Among authors: wasserman jd. Lancet Oncol. 2013 May;14(6):534-42. doi: 10.1016/S1470-2045(13)70110-4. Epub 2013 Apr 16. Lancet Oncol. 2013. PMID: 23598174
Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility.
Samuel N, Wilson G, Lemire M, Id Said B, Lou Y, Li W, Merino D, Novokmet A, Tran J, Nichols KE, Finlay JL, Choufani S, Remke M, Ramaswamy V, Cavalli FMG, Elser C, Meister L, Taylor MD, Tabori U, Irwin M, Weksberg R, Wasserman JD, Paterson AD, Hansford JR, Achatz MIW, Hudson TJ, Malkin D. Samuel N, et al. Among authors: wasserman jd. J Clin Oncol. 2016 Oct 20;34(30):3697-3704. doi: 10.1200/JCO.2016.67.6940. J Clin Oncol. 2016. PMID: 27551116 Free PMC article.
A curious case of growth failure and hypercalcemia: Questions.
Downie ML, Mulder J, Schneider R, Lim L, Tehrani N, Wasserman JD, Fuchs S, John R, Noone DG, Hebert D. Downie ML, et al. Among authors: wasserman jd. Pediatr Nephrol. 2018 Jun;33(6):991-993. doi: 10.1007/s00467-017-3768-3. Epub 2017 Aug 7. Pediatr Nephrol. 2018. PMID: 28785983
73 results