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Gastroschisis in Ontario, Canada: 2012-2018.
Bourque DK, Meng L, Dougan S, Momoli F, Riddell C, Walker M, Armour CM. Bourque DK, et al. Birth Defects Res. 2021 Aug 15;113(14):1044-1051. doi: 10.1002/bdr2.1896. Epub 2021 Apr 19. Birth Defects Res. 2021. PMID: 33871183
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L, Chisholm C, Eaton AJ, Price EM, Dowling JJ, Ramani AK, Mendoza-Londono R, Costain G, Axford MM, Szuto A, McNiven V, Damseh N, Jobling R, de Kock L, Mojarad BA, Young T, Shao Z, Hayeems RZ, Graham ID, Tarnopolsky M, Brady L, Armour CM, Geraghty M, Richer J, Sawyer S, Lines M, Mercimek-Andrews S, Carter MT, Graham G, Kannu P, Lazier J, Li C, Aul RB, Balci TB, Dlamini N, Badalato L, Guerin A, Walia J, Chitayat D, Cohn R, Faghfoury H, Forster-Gibson C, Gonorazky H, Grunebaum E, Inbar-Feigenberg M, Karp N, Morel C, Rusnak A, Sondheimer N, Warman-Chardon J, Bhola PT, Bourque DK, Chacon IJ, Chad L, Chakraborty P, Chong K, Doja A, Goh ES, Saleh M; Care4Rare Canada; Potter BK, Marshall CR, Dyment DA, Kernohan K, Boycott KM. Hartley T, et al. Among authors: bourque dk. Clin Genet. 2023 Mar;103(3):288-300. doi: 10.1111/cge.14262. Epub 2022 Nov 29. Clin Genet. 2023. PMID: 36353900
Periodic breathing in patients with NALCN mutations.
Bourque DK, Dyment DA, MacLusky I, Kernohan KD; Care4Rare Canada Consortium; McMillan HJ. Bourque DK, et al. J Hum Genet. 2018 Oct;63(10):1093-1096. doi: 10.1038/s10038-018-0484-1. Epub 2018 Jul 3. J Hum Genet. 2018. PMID: 29968795
Outcomes of patients with cobalamin C deficiency: A single center experience.
Bourque DK, Mellin-Sanchez LE, Bullivant G, Cruz V, Feigenbaum A, Hewson S, Raiman J, Schulze A, Siriwardena K, Mercimek-Andrews S. Bourque DK, et al. JIMD Rep. 2020 Nov 8;57(1):102-114. doi: 10.1002/jmd2.12179. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473346 Free PMC article.
12 results