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Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.
Daoud H, Zhang D, McMurray F, Yu A, Luco SM, Vanstone J, Jarinova O, Carson N, Wickens J, Shishodia S, Choi H, McDonough MA, Schofield CJ, Harper ME, Dyment DA, Armour CM. Daoud H, et al. Among authors: armour cm. J Med Genet. 2016 Mar;53(3):200-7. doi: 10.1136/jmedgenet-2015-103399. Epub 2015 Sep 16. J Med Genet. 2016. PMID: 26378117
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, Jung JH, Siu V, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, Dick PT, Hussain AS, Walinga M, Reijenga RG, Gazzellone M, Lionel AC, Marshall CR, Scherer SW, Stavropoulos DJ, McCready E, Bassett AS. Lowther C, et al. Among authors: armour cm. Genet Med. 2017 Jan;19(1):53-61. doi: 10.1038/gim.2016.54. Epub 2016 May 19. Genet Med. 2017. PMID: 27195815 Free PMC article.
The value of diagnostic testing for parents of children with rare genetic diseases.
Marshall DA, MacDonald KV, Heidenreich S, Hartley T, Bernier FP, Gillespie MK, McInnes B, Innes AM, Armour CM, Boycott KM. Marshall DA, et al. Among authors: armour cm. Genet Med. 2019 Dec;21(12):2798-2806. doi: 10.1038/s41436-019-0583-1. Epub 2019 Jun 26. Genet Med. 2019. PMID: 31239560 Free article.
Application of exome sequencing for prenatal diagnosis: a rapid scoping review.
Pratt M, Garritty C, Thuku M, Esmaeilisaraji L, Hamel C, Hartley T, Millar K, Skidmore B, Dougan S, Armour CM. Pratt M, et al. Among authors: armour cm. Genet Med. 2020 Dec;22(12):1925-1934. doi: 10.1038/s41436-020-0918-y. Epub 2020 Aug 4. Genet Med. 2020. PMID: 32747765 Free article. Review.
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
Lazier J, Hartley T, Brock JA, Caluseriu O, Chitayat D, Laberge AM, Langlois S, Lauzon J, Nelson TN, Parboosingh J, Stavropoulos DJ, Boycott K, Armour CM; Canadian College of Medical Geneticists. Lazier J, et al. Among authors: armour cm. J Med Genet. 2022 Oct;59(10):931-937. doi: 10.1136/jmedgenet-2021-107897. Epub 2021 Sep 20. J Med Genet. 2022. PMID: 34544840 Free PMC article.
The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity.
Hayeems RZ, Luca S, Xiao B, Boswell-Patterson C, Lavin Venegas C, Abi Semaan CR, Kolar T, Myles-Reid D, Chad L, Dyment D, Boycott KM, Lazier J, Ungar WJ, Armour CM. Hayeems RZ, et al. Among authors: armour cm. Genet Med. 2025 Jan;27(1):101306. doi: 10.1016/j.gim.2024.101306. Epub 2024 Oct 24. Genet Med. 2025. PMID: 39489893
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM; Canadian College of Medical Geneticists. Boycott K, et al. Among authors: armour cm. J Med Genet. 2015 Jul;52(7):431-7. doi: 10.1136/jmedgenet-2015-103144. Epub 2015 May 7. J Med Genet. 2015. PMID: 25951830 Free PMC article.
67 results