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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 1
1985 2
1987 1
1993 1
1994 3
1995 2
1996 2
2001 3
2002 1
2003 3
2006 1
2008 1
2009 1
2010 1
2011 2
2012 1
2013 6
2014 4
2015 5
2016 2
2017 3
2018 4
2019 3
2020 2
2021 2
2022 3
2023 1
2024 0

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51 results

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Page 1
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap.
McCuaig JM, Stockley TL, Shaw P, Fung-Kee-Fung M, Altman AD, Bentley J, Bernardini MQ, Cormier B, Hirte H, Kieser K, MacMillan A, Meschino WS, Panabaker K, Perrier R, Provencher D, Schrader KA, Serfas K, Tomiak E, Wong N, Young SS, Gotlieb WH, Hoskins P, Kim RH; BRCA TtoT Community of Practice. McCuaig JM, et al. J Med Genet. 2018 Sep;55(9):571-577. doi: 10.1136/jmedgenet-2018-105472. Epub 2018 Jul 24. J Med Genet. 2018. PMID: 30042185 Free PMC article. Review.
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
Prevalence of NTRK Fusions in Canadian Solid Tumour Cancer Patients.
Silvertown JD, Lisle C, Semenuk L, Knapp C, Jaynes J, Berg D, Kaul N, Lachapelle J, Richardson L, Speevak M, Sarras H, Berman DM, Carter R, Feilotter H, Feltis T. Silvertown JD, et al. Among authors: speevak m. Mol Diagn Ther. 2023 Jan;27(1):87-103. doi: 10.1007/s40291-022-00617-y. Epub 2022 Oct 4. Mol Diagn Ther. 2023. PMID: 36194351 Free PMC article.
CCMG practice guideline: laboratory guidelines for next-generation sequencing.
Hume S, Nelson TN, Speevak M, McCready E, Agatep R, Feilotter H, Parboosingh J, Stavropoulos DJ, Taylor S, Stockley TL; Canadian College of Medical Geneticists (CCMG). Hume S, et al. Among authors: speevak m. J Med Genet. 2019 Dec;56(12):792-800. doi: 10.1136/jmedgenet-2019-106152. Epub 2019 Jul 12. J Med Genet. 2019. PMID: 31300550 Free PMC article.
An unusual case of alpha-1-antitrypsin deficiency: SZ/Z.
Speevak MD, DeMarco ML, Wiebe NS, Chapman KR. Speevak MD, et al. Clin Biochem. 2019 Feb;64:49-52. doi: 10.1016/j.clinbiochem.2018.12.008. Epub 2018 Dec 21. Clin Biochem. 2019. PMID: 30579752
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK. Uddin M, et al. Among authors: speevak m. Am J Hum Genet. 2018 Feb 1;102(2):278-295. doi: 10.1016/j.ajhg.2018.01.006. Am J Hum Genet. 2018. PMID: 29395074 Free PMC article.
51 results