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The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW. Reuter MS, et al. Among authors: bombard y. CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151. CMAJ. 2018. PMID: 29431110 Free PMC article.
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: bombard y. 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: bombard y. 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.
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care.
Shickh S, Rafferty SA, Clausen M, Kodida R, Mighton C, Panchal S, Lorentz J, Ward T, Watkins N, Elser C, Eisen A, Carroll JC, Glogowski E, Schrader KA, Lerner-Ellis J, Kim RH, Chitayat D, Shuman C, Bombard Y; Incidental Genomics Study Team. Shickh S, et al. Among authors: bombard y. Genet Med. 2021 Jun;23(6):1086-1094. doi: 10.1038/s41436-021-01112-1. Epub 2021 Mar 2. Genet Med. 2021. PMID: 33654192 Free PMC article. Clinical Trial.
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.
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.
Luca S, Clausen M, Shaw A, Lee W, Krishnapillai S, Adi-Wauran E, Faghfoury H, Costain G, Jobling R, Aronson M, Liston E, Silver J, Shuman C, Chad L, Hayeems RZ, Bombard Y; Genetics Navigator Study Team. Luca S, et al. Among authors: bombard y. Hum Genet. 2023 Mar;142(3):321-330. doi: 10.1007/s00439-022-02512-2. Epub 2023 Jan 11. Hum Genet. 2023. PMID: 36629921 Free PMC article.
Public views on participating in newborn screening using genome sequencing.
Bombard Y, Miller FA, Hayeems RZ, Barg C, Cressman C, Carroll JC, Wilson BJ, Little J, Avard D, Painter-Main M, Allanson J, Giguere Y, Chakraborty P. Bombard Y, et al. Eur J Hum Genet. 2014 Nov;22(11):1248-54. doi: 10.1038/ejhg.2014.22. Epub 2014 Feb 19. Eur J Hum Genet. 2014. PMID: 24549052 Free PMC article.
123 results