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Page 1
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
Grafodatskaya D, O'Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, McCready E, Parboosingh J, Spriggs EL, Vaags AK, Stockley TL. Grafodatskaya D, et al. Among authors: o rielly dd. J Med Genet. 2022 Aug;59(8):727-736. doi: 10.1136/jmedgenet-2021-108238. Epub 2022 Apr 7. J Med Genet. 2022. PMID: 35393334 Free PMC article. Review.
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.
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.
Genetic Epidemiology of Complex Phenotypes.
O'Rielly DD, Rahman P. O'Rielly DD, et al. Methods Mol Biol. 2021;2249:335-367. doi: 10.1007/978-1-0716-1138-8_19. Methods Mol Biol. 2021. PMID: 33871853 Review.
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.
Abdelfatah N, Mostafa AA, French CR, Doucette LP, Penney C, Lucas MB, Griffin A, Booth V, Rowley C, Besaw JE, Tranebjærg L, Rendtorff ND, Hodgkinson KA, Little LA, Agrawal S, Parnes L, Batten T, Moore S, Hu P, Pater JA, Houston J, Galutira D, Benteau T, MacDonald C, French D, O'Rielly DD, Stanton SG, Young TL. Abdelfatah N, et al. Among authors: o rielly dd. Hum Genet. 2022 Apr;141(3-4):965-979. doi: 10.1007/s00439-021-02381-1. Epub 2021 Oct 11. Hum Genet. 2022. PMID: 34633540 Free PMC article.
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
Singh S, Penney C, Griffin A, Woodland G, Werdyani S, Benteau TA, Abdelfatah N, Squires J, King B, Houston J, Dyer MJ, Roslin NM, Vincent D, Marquis P, O'Rielly DD, Hodgkinson K, Burt T, Baker A, Stanton SG, Young TL. Singh S, et al. Among authors: o rielly dd. Eur J Hum Genet. 2023 Jul;31(7):815-823. doi: 10.1038/s41431-023-01358-0. Epub 2023 Apr 19. Eur J Hum Genet. 2023. PMID: 37072551 Free PMC article.
49 results