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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: silver j. 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. Among authors: silver t. 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.
Congenital Myopathy Due to Pathogenic Missense Variant in the MYBPC1 Gene.
Bhandari V, Kim R, Faghfoury H, Silver J, Chan RH, Ding Q, Schwartz MLB, Bril V. Bhandari V, et al. Among authors: silver j. Can J Neurol Sci. 2024 Jul;51(4):585-587. doi: 10.1017/cjn.2023.257. Epub 2023 Aug 14. Can J Neurol Sci. 2024. PMID: 37577974 No abstract available.
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.
D'Amours G, Clausen M, Luca S, Reble E, Kodida R, Assamad D, Bernier F, Chad L, Costain G, Dhalla I, Faghfoury H, Friedman JM, Hewson S, Jamieson T, Silver J, Shuman C, Osmond M, Carroll JC, Jobling R, Laberge AM, Aronson M, Liston E, Lerner-Ellis J, Marshall C, Brudno M, Pham Q, Rudzicz F, Cohn R, Mamdani M, Smith M, Shastri-Estrada S, Seto E, Thorpe K, Ungar W, Hayeems RZ, Bombard Y. D'Amours G, et al. Among authors: silver j. BMJ Open. 2024 Sep 3;14(9):e090084. doi: 10.1136/bmjopen-2024-090084. BMJ Open. 2024. PMID: 39231549 Free PMC article. Clinical Trial.
1,605 results