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Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Mighton C, et al. Among authors: tomaszewski r. J Med Genet. 2022 Jun;59(6):571-578. doi: 10.1136/jmedgenet-2021-107738. Epub 2021 Apr 19. J Med Genet. 2022. PMID: 33875564 Free PMC article.
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Lebo MS, et al. Among authors: tomaszewski r. Genet Med. 2018 Mar;20(3):294-302. doi: 10.1038/gim.2017.80. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726806 Free article.
Retrospective testing of respiratory specimens for COVID-19 to assess for earlier SARS-CoV-2 infections in Alberta, Canada.
Kanji JN, Diggle M, Bulman DE, Hume S, Taylor S, Kelln R, Haase S, Tomaszewski R, Walker C, Pabbaraju K, Li V, Croxen M, Zelyas N, Hinshaw D, Tipples G. Kanji JN, et al. Among authors: tomaszewski r. J Assoc Med Microbiol Infect Dis Can. 2021 May 3;6(1):10-15. doi: 10.3138/jammi-2020-0035. eCollection 2021 Mar. J Assoc Med Microbiol Infect Dis Can. 2021. PMID: 36340216 Free PMC article.
Topical reversion at the HIS1 locus of Saccharomyces cerevisiae. A tale of three mutants.
von Borstel RC, Savage EA, Wang Q, Hennig UG, Ritzel RG, Lee GS, Hamilton MD, Chrenek MA, Tomaszewski RW, Higgins JA, Tenove CJ, Liviero L, Hastings PJ, Korch CT, Steinberg CM. von Borstel RC, et al. Among authors: tomaszewski rw. Genetics. 1998 Apr;148(4):1647-54. doi: 10.1093/genetics/148.4.1647. Genetics. 1998. PMID: 9560384 Free PMC article.
Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.
Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, Sprysak KA, Tomaszewski R, Haase SM, Vicen-Wyhony LM, Somerville MJ. Christiansen J, et al. Among authors: tomaszewski r. Circ Res. 2004 Jun 11;94(11):1429-35. doi: 10.1161/01.RES.0000130528.72330.5c. Epub 2004 Apr 29. Circ Res. 2004. PMID: 15117819
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