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Advancing diagnosis and research for rare genetic diseases in Indigenous peoples.
Baynam G, Julkowska D, Bowdin S, Hermes A, McMaster CR, Prichep E, Richer É, van der Westhuizen FH, Repetto GM, Malherbe H, Reichardt JKV, Arbour L, Hudson M, du Plessis K, Haendel M, Wilcox P, Lynch SA, Rind S, Easteal S, Estivill X, Caron N, Chongo M, Thomas Y, Letinturier MCV, Vorster BC. Baynam G, et al. Among authors: mcmaster cr. Nat Genet. 2024 Feb;56(2):189-193. doi: 10.1038/s41588-023-01642-1. Nat Genet. 2024. PMID: 38332370 No abstract available.
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.
D'Angelo CS, Hermes A, McMaster CR, Prichep E, Richer É, van der Westhuizen FH, Repetto GM, Mengchun G, Malherbe H, Reichardt JKV, Arbour L, Hudson M, du Plessis K, Haendel M, Wilcox P, Lynch SA, Rind S, Easteal S, Estivill X, Thomas Y, Baynam G. D'Angelo CS, et al. Among authors: mcmaster cr. Front Pediatr. 2020 Dec 14;8:579924. doi: 10.3389/fped.2020.579924. eCollection 2020. Front Pediatr. 2020. PMID: 33381478 Free PMC article. Review.
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME. Guernsey DL, et al. Among authors: mcmaster cr. Nat Genet. 2011 Feb 27;43(4):360-4. doi: 10.1038/ng.777. Nat Genet. 2011. PMID: 21358631
Genetic analysis of Pycr1 and Pycr2 in mice.
Stum MG, Tadenev ALD, Seburn KL, Miers KE, Poon PP, McMaster CR, Robinson C, Kane C, Silva KA, Cliften PF, Sundberg JP, Reinholdt LG, John SWM, Burgess RW. Stum MG, et al. Among authors: mcmaster cr. Genetics. 2021 May 17;218(1):iyab048. doi: 10.1093/genetics/iyab048. Genetics. 2021. PMID: 33734376 Free PMC article.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Boycott KM, Campeau PM, Howley HE, Pavlidis P, Rogic S, Oriel C, Berman JN, Hamilton RM, Hicks GG, Lipshitz HD, Masson JY, Shoubridge EA, Junker A, Leroux MR, McMaster CR, Michaud JL, Turvey SE, Dyment D, Innes AM, van Karnebeek CD, Lehman A, Cohn RD, MacDonald IM, Rachubinski RA, Frosk P, Vandersteen A, Wozniak RW, Pena IA, Wen XY, Lacaze-Masmonteil T, Rankin C, Hieter P. Boycott KM, et al. Among authors: mcmaster cr. Am J Hum Genet. 2020 Feb 6;106(2):143-152. doi: 10.1016/j.ajhg.2020.01.009. Am J Hum Genet. 2020. PMID: 32032513 Free PMC article.
Genetic diseases of the Kennedy pathways for membrane synthesis.
Tavasoli M, Lahire S, Reid T, Brodovsky M, McMaster CR. Tavasoli M, et al. Among authors: mcmaster cr. J Biol Chem. 2020 Dec 18;295(51):17877-17886. doi: 10.1074/jbc.REV120.013529. J Biol Chem. 2020. PMID: 33454021 Free PMC article. Review.
Mechanism of action and therapeutic route for a muscular dystrophy caused by a genetic defect in lipid metabolism.
Tavasoli M, Lahire S, Sokolenko S, Novorolsky R, Reid SA, Lefsay A, Otley MOC, Uaesoontrachoon K, Rowsell J, Srinivassane S, Praest M, MacKinnon A, Mammoliti MS, Maloney AA, Moraca M, Pedro Fernandez-Murray J, McKenna M, Sinal CJ, Nagaraju K, Robertson GS, Hoffman EP, McMaster CR. Tavasoli M, et al. Among authors: mcmaster cr. Nat Commun. 2022 Mar 23;13(1):1559. doi: 10.1038/s41467-022-29270-z. Nat Commun. 2022. PMID: 35322809 Free PMC article.
110 results