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Page 1
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
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
The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic.
Postma JK, Harrison MA, Kutcher S, Webster RJ, Cloutier M, Bourque DK, Yu AC, Carter MT. Postma JK, et al. Among authors: bourque dk. Am J Med Genet A. 2024 Nov;194(11):e63791. doi: 10.1002/ajmg.a.63791. Epub 2024 Jun 20. Am J Med Genet A. 2024. PMID: 39031819
16 results