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Genome screening, reporting, and genetic counseling for healthy populations.
Casalino S, Frangione E, Chung M, MacDonald G, Chowdhary S, Mighton C, Faghfoury H, Bombard Y, Strug L, Pugh TJ, Simpson J, Arnoldo S, Aujla N, Bearss E, Binnie A, Borgundvaag B, Chertkow H, Clausen M, Dagher M, Devine L, Di Iorio D, Friedman SM, Fung CYJ, Gingras AC, Goneau LW, Kaushik D, Khan Z, Lapadula E, Lu T, Mazzulli T, McGeer A, McLeod SL, Morgan G, Richardson D, Singh H, Stern S, Taher A, Wong I, Zarei N, Greenfeld E, Hao L, Lebo M, Lane W, Noor A, Taher J, Lerner-Ellis J. Casalino S, et al. Among authors: faghfoury h. Hum Genet. 2023 Feb;142(2):181-192. doi: 10.1007/s00439-022-02480-7. Epub 2022 Nov 4. Hum Genet. 2023. PMID: 36331656 Free PMC article.
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
Fernández-Irigoyen J, Santamaría E, Chien YH, Hwu WL, Korman SH, Faghfoury H, Schulze A, Hoganson GE, Stabler SP, Allen RH, Wagner C, Mudd SH, Corrales FJ. Fernández-Irigoyen J, et al. Among authors: faghfoury h. Mol Genet Metab. 2010 Oct-Nov;101(2-3):172-7. doi: 10.1016/j.ymgme.2010.07.009. Epub 2010 Jul 15. Mol Genet Metab. 2010. PMID: 20675163 Free article.
The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital.
Mittal N, Mina DS, McGillis L, Weinrib A, Slepian PM, Rachinsky M, Buryk-Iggers S, Laflamme C, Lopez-Hernandez L, Hussey L, Katz J, McLean L, Rozenberg D, Liu L, Tse Y, Parker C, Adler A, Charames G, Bleakney R, Veillette C, Nielson CJ, Tavares S, Varriano S, Guzman J, Faghfoury H, Clarke H. Mittal N, et al. Among authors: faghfoury h. Orphanet J Rare Dis. 2021 Aug 10;16(1):357. doi: 10.1186/s13023-021-01962-7. Orphanet J Rare Dis. 2021. PMID: 34376220 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.
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: faghfoury h. 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.
Implementation of serological and molecular tools to inform COVID-19 patient management: protocol for the GENCOV prospective cohort study.
Taher J, Mighton C, Chowdhary S, Casalino S, Frangione E, Arnoldo S, Bearss E, Binnie A, Bombard Y, Borgundvaag B, Chertkow H, Clausen M, Devine L, Faghfoury H, Friedman SM, Gingras AC, Khan Z, Mazzulli T, McGeer A, McLeod SL, Pugh TJ, Richardson D, Simpson J, Stern S, Strug L, Taher A, Lerner-Ellis J. Taher J, et al. Among authors: faghfoury h. BMJ Open. 2021 Sep 30;11(9):e052842. doi: 10.1136/bmjopen-2021-052842. BMJ Open. 2021. PMID: 34593505 Free PMC article.
Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery.
Shickh S, Hirjikaka D, Clausen M, Kodida R, Mighton C, Reble E, Sam J, Panchal S, Aronson M, Graham T, Armel SR, Glogowski E, Elser C, Eisen A, Carroll JC, Shuman C, Seto E, Baxter NN, Scheer A, Shastri-Estrada S, Feldman G, Thorpe KE, Schrader KA, Lerner-Ellis J, Kim RH, Faghfoury H, Bombard Y. Shickh S, et al. Among authors: faghfoury h. BMJ Open. 2022 Apr 29;12(4):e060899. doi: 10.1136/bmjopen-2022-060899. BMJ Open. 2022. PMID: 35487723 Free PMC article.
Genome Reporting for Healthy Populations-Pipeline for Genomic Screening from the GENCOV COVID-19 Study.
Frangione E, Chung M, Casalino S, MacDonald G, Chowdhary S, Mighton C, Faghfoury H, Bombard Y, Strug L, Pugh T, Simpson J, Hao L, Lebo M, Lane WJ, Taher J, Lerner-Ellis J; GENCOV Study Workgroup. Frangione E, et al. Among authors: faghfoury h. Curr Protoc. 2022 Oct;2(10):e534. doi: 10.1002/cpz1.534. Curr Protoc. 2022. PMID: 36205462 Free PMC article.
46 results