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Cardiac sarcoidosis with extensive and heterogeneous left ventricular FDG uptake in absence of guidelines indication for an implantable defibrillator: Ventricular tachycardia precipitated by immunosuppressive therapy, should we have done differently?
Voisine E, Lemay S, Beaudoin J, Jacob P, Philippon F, Marchand L, Vallée-Marcotte B, Bernier F, Laliberté C, Fortin S, Komlosy MÈ, Birnie DH, Sénéchal M. Voisine E, et al. Among authors: bernier f. Pacing Clin Electrophysiol. 2024 Mar 15. doi: 10.1111/pace.14965. Online ahead of print. Pacing Clin Electrophysiol. 2024. PMID: 38491744
Longitudinal changes in brain metabolites following pediatric concussion.
La PL, Walker R, Bell TK, Craig W, Doan Q, Beauchamp MH, Zemek R, Yeates KO, Harris AD; Pediatric Emergency Research Canada A-CAP study team. La PL, et al. Sci Rep. 2024 Feb 8;14(1):3242. doi: 10.1038/s41598-024-52744-7. Sci Rep. 2024. PMID: 38331924 Free PMC article. Clinical Trial.
An interactive atlas of three-dimensional syndromic facial morphology.
Aponte JD, Bannister JJ, Hoskens H, Matthews H, Katsura K, Da Silva C, Cruz T, Pilz JHM, Spritz RA, Forkert ND, Claes P, Bernier FP, Klein OD, Katz DC, Hallgrímsson B. Aponte JD, et al. Among authors: bernier fp. Am J Hum Genet. 2024 Jan 4;111(1):39-47. doi: 10.1016/j.ajhg.2023.11.011. Am J Hum Genet. 2024. PMID: 38181734
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
de Kock L, Cuillerier A, Gillespie M, Couse M, Hartley T, Mears W, Bernier FP, Chudley AE, Frosk P, Nikkel SM, Innes AM, Lauzon J, Thomas M, Guerin A, Armour CM, Weksberg R, Scott JN, Watkins D, Harvey S, Cytrynbaum C; Care4Rare Canada Consortium; Kernohan KD, Boycott KM. de Kock L, et al. Among authors: bernier fp. Am J Med Genet A. 2024 Mar;194(3):e63466. doi: 10.1002/ajmg.a.63466. Epub 2023 Nov 10. Am J Med Genet A. 2024. PMID: 37949664
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK, Brady L, Hui AY, Andrews JD, Chowdhury A, Wall E, Soubry É, Ediae GU, Rojas S, Assamad D, Dyment D, Tarnopolsky M, Sawyer SL, Chisholm C, Lemire G, Amburgey K, Lazier J, Mendoza-Londono R, Dowling JJ, Balci TB, Armour CM, Bhola PT, Costain G, Dupuis L, Carter M, Badalato L, Richer J, Boswell-Patterson C, Kannu P, Cordeiro D, Warman-Chardon J, Graham G, Siu VM, Cytrynbaum C, Rusnak A, Aul RB, Yoon G, Gonorazky H, McNiven V, Mercimek-Andrews S, Guerin A, Deshwar AR, Marwaha A, Weksberg R, Karp N, Campbell M, Al-Qattan S, Shuen AY, Inbar-Feigenberg M, Cohn R, Szuto A, Inglese C, Poirier M, Chad L, Potter B, Boycott KM, Hayeems R; Care4Rare Canada Consortium. Hartley T, et al. Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924259
256 results