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Page 1
Incidental findings from cancer next generation sequencing panels.
Maani N, Panabaker K, McCuaig JM, Buckley K, Semotiuk K, Farncombe KM, Ainsworth P, Panchal S, Sadikovic B, Armel SR, Lin H, Kim RH. Maani N, et al. Among authors: semotiuk k. NPJ Genom Med. 2021 Jul 19;6(1):63. doi: 10.1038/s41525-021-00224-6. NPJ Genom Med. 2021. PMID: 34282142 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. 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.
Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial.
Shickh S, Clausen M, Mighton C, Casalino S, Joshi E, Glogowski E, Schrader KA, Scheer A, Elser C, Panchal S, Eisen A, Graham T, Aronson M, Semotiuk KM, Winter-Paquette L, Evans M, Lerner-Ellis J, Carroll JC, Hamilton JG, Offit K, Robson M, Thorpe KE, Laupacis A, Bombard Y. Shickh S, et al. Among authors: semotiuk km. BMJ Open. 2018 Apr 26;8(4):e021876. doi: 10.1136/bmjopen-2018-021876. BMJ Open. 2018. PMID: 29700101 Free PMC article.
Additional germline findings from a tumor profiling program.
Stjepanovic N, Stockley TL, Bedard PL, McCuaig JM, Aronson M, Holter S, Semotiuk K, Leighl NB, Jang R, Krzyzanowska MK, Oza AM, Gupta A, Elser C, Ahmed L, Wang L, Kamel-Reid S, Siu LL, Kim RH. Stjepanovic N, et al. Among authors: semotiuk k. BMC Med Genomics. 2018 Aug 9;11(1):65. doi: 10.1186/s12920-018-0383-5. BMC Med Genomics. 2018. PMID: 30092803 Free PMC article.
Development of patient "profiles" to tailor counseling for incidental genomic sequencing results.
Mighton C, Carlsson L, Clausen M, Casalino S, Shickh S, McCuaig L, Joshi E, Panchal S, Graham T, Aronson M, Piccinin C, Winter-Paquette L, Semotiuk K, Lorentz J, Mancuso T, Ott K, Silberman Y, Elser C, Eisen A, Kim RH, Lerner-Ellis J, Carroll JC, Glogowski E, Schrader K, Bombard Y; Incidental Genomics Study Team. Mighton C, et al. Among authors: semotiuk k. Eur J Hum Genet. 2019 Jul;27(7):1008-1017. doi: 10.1038/s41431-019-0352-2. Epub 2019 Mar 8. Eur J Hum Genet. 2019. PMID: 30846854 Free PMC article.
Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial.
Bombard Y, Clausen M, Shickh S, Mighton C, Casalino S, Kim THM, Muir SM, Carlsson L, Baxter N, Scheer A, Elser C, Eisen A, Panchal S, Graham T, Aronson M, Piccinin C, Mancuso T, Semotiuk K, Evans M, Carroll JC, Offit K, Robson M, Hamilton JG, Glogowski E, Schrader K, Kim RH, Lerner-Ellis J, Thorpe KE, Laupacis A; Incidental Genomics Study Team. Bombard Y, et al. Among authors: semotiuk k. Genet Med. 2020 Apr;22(4):727-735. doi: 10.1038/s41436-019-0702-z. Epub 2019 Dec 11. Genet Med. 2020. PMID: 31822848 Free PMC article. Clinical Trial.
Quality of life drives patients' preferences for secondary findings from genomic sequencing.
Mighton C, Carlsson L, Clausen M, Casalino S, Shickh S, McCuaig L, Joshi E, Panchal S, Semotiuk K, Ott K, Elser C, Eisen A, Kim RH, Lerner-Ellis J, Carroll JC, Glogowski E, Schrader K, Bombard Y; Incidental Genomics Study Team. Mighton C, et al. Among authors: semotiuk k. Eur J Hum Genet. 2020 Sep;28(9):1178-1186. doi: 10.1038/s41431-020-0640-x. Epub 2020 May 18. Eur J Hum Genet. 2020. PMID: 32424322 Free PMC article.
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S, Gutierrez Salazar M, Zakoor KR, Lázaro C, Gu J, Goltz J, Kleinman D, Noor A, Khalouei S, Mighton C, Reble E, Kodida R, Bombard Y, DiTroia S, Baxter S, Watkins N, Care M, Adler A, Horsburgh S, Morar O, Murphy J, Nevay DL, Szybowska M, Aronson M, Panchal S, Godoy R, Holter S, Randall Armel S, Semotiuk K, Elser C, Kim RH, Chitayat D, So J, Faghfoury H, Silver J, Morel CF, Lerner-Ellis J. Shickh S, et al. Among authors: semotiuk k. J Med Genet. 2021 Apr;58(4):275-283. doi: 10.1136/jmedgenet-2020-106936. Epub 2020 Jun 24. J Med Genet. 2021. PMID: 32581083 Free PMC article.
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. 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.
42 results