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A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
Richer J, Hill HL, Wang Y, Yang ML, Hunker KL, Lane J, Blackburn S, Coleman DM, Eliason J, Sillon G, D'Agostino MD, Jetty P, Mongeon FP, Laberge AM, Ryan SE, Fendrikova-Mahlay N, Coutinho T, Mathis MR, Zawistowski M, Hazen SL, Katz AE, Gornik HL, Brummett CM, Abecasis G, Bergin IL, Stanley JC, Li JZ, Ganesh SK. Richer J, et al. Arterioscler Thromb Vasc Biol. 2020 Nov;40(11):2686-2699. doi: 10.1161/ATVBAHA.119.313885. Epub 2020 Sep 17. Arterioscler Thromb Vasc Biol. 2020. PMID: 32938213 Free PMC article.
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: richer j. 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.
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B. Cannaerts E, et al. Among authors: richer j. J Med Genet. 2019 Apr;56(4):220-227. doi: 10.1136/jmedgenet-2018-105304. Epub 2018 Jul 2. J Med Genet. 2019. PMID: 29967133
The Aortic Team Model and Collaborative Decision Pathways for the Management of Complex Aortic Disease: Clinical Practice Update From the Canadian Cardiovascular Society/Canadian Society of Cardiac Surgeons/Canadian Society for Vascular Surgery/Canadian Association for Interventional Radiology.
McClure RS, Lindsay TF, Keir M, Bayne JP, Berry RF, Chu MWA, Chung JC, Dagenais F, Ducas RA, Duncan A, Horne G, Klass D, Mongeon FP, Richer J, Rommens KL. McClure RS, et al. Among authors: richer j. Can J Cardiol. 2023 Nov;39(11):1484-1498. doi: 10.1016/j.cjca.2023.07.031. Can J Cardiol. 2023. PMID: 37949520
284 results