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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. Among authors: poirier m. Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924259
Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.
Huguet G, Schramm C, Douard E, Tamer P, Main A, Monin P, England J, Jizi K, Renne T, Poirier M, Nowak S, Martin CO, Younis N, Knoth IS, Jean-Louis M, Saci Z, Auger M, Tihy F, Mathonnet G, Maftei C, Léveillé F, Porteous D, Davies G, Redmond P, Harris SE, Hill WD, Lemyre E, Schumann G, Bourgeron T, Pausova Z, Paus T, Karama S, Lippe S, Deary IJ, Almasy L, Labbe A, Glahn D, Greenwood CMT, Jacquemont S. Huguet G, et al. Among authors: poirier m. Mol Psychiatry. 2021 Jun;26(6):2663-2676. doi: 10.1038/s41380-020-00985-z. Epub 2021 Jan 7. Mol Psychiatry. 2021. PMID: 33414497 Free PMC article.
The winged helix domain of MORF binds CpG islands and the TAZ2 domain of p300.
Becht DC, Kanai A, Biswas S, Halawa M, Zeng L, Cox KL, Poirier MG, Zhou MM, Shi X, Yokoyama A, Kutateladze TG. Becht DC, et al. Among authors: poirier mg. iScience. 2024 Feb 29;27(4):109367. doi: 10.1016/j.isci.2024.109367. eCollection 2024 Apr 19. iScience. 2024. PMID: 38500836 Free PMC article.
Guiding the HBO1 complex function through the JADE subunit.
Gaurav N, Kanai A, Lachance C, Cox KL, Liu J, Grzybowski AT, Saksouk N, Klein BJ, Komata Y, Asada S, Ruthenburg AJ, Poirier MG, Côté J, Yokoyama A, Kutateladze TG. Gaurav N, et al. Among authors: poirier mg. Nat Struct Mol Biol. 2024 Mar 6. doi: 10.1038/s41594-024-01245-2. Online ahead of print. Nat Struct Mol Biol. 2024. PMID: 38448574
928 results