Michelle Axford

Michelle Axford is a director for clinical Molecular Genetics laboratory in Genome Diagnostics, Department of Pediatric Laboratory Medicine at SickKids.  She was previously a research and development scientist for a molecular diagnostics laboratory in Toronto.  Prior to that, she obtained her PhD in the department of Molecular Genetics at the University of Toronto, studying the molecular mechanisms of genetic instability in rare disorders caused by the expansion of trinucleotide repeats.

Recent Publications

Selected list of publications:

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by mutation in FOXF1. Bourque D, Chacon Fonseca I, Staines A, Teitelbaum R, Axford M, Jobling R, Chiasson D, Chitayat D. J Hum Genet. 2019. Accepted.

PKD1L1-related situs inversus associated with sideroblastic anemia. Rodriguez S, Chaturvedi R, Blanchette V, Dell S, Axford M, Cada M, Dror Y. Clin Genet. 2019 May;95(5):629-630. PMID: 30791085

Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders. Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D. J Med Genet. 2018 May;55(5):316-321. PMID: 29599419

Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues. Axford MM, Wang YH, Nakamori M, Zannis-Hadjopoulos M, Thornton CA, Pearson CE. PLoS Genet. 2013;9(12):e1003866. PMID: 24367268

Illuminating CNS and cognitive issues in myotonic dystrophy: Workshop report. Axford MM, Pearson CE. Neuromuscul Disord. 2013 Apr;23(4):370- 374. PMID: 23453858

ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension. Eyries M, Coulet F, Girerd B, Montani D, Humbert M, Lacombe P, Chinet T, Gouya L, Roume J, Axford MM, Pearson CE, Soubrier F. Clin Genet. 2012 Aug;82(2):173-179. PMID: 21651515

Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues. Axford MM, López-Castel A, Nakamori M, Thornton CA, Pearson CE. J Med Genet. 2011 Jul;48(7):438-443. PMID: 21622935

CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. Libby RT, Hagerman KA, Pineda VV, Lau R, Cho DH, Baccam SL, Axford MM, Cleary JD, Moore JM, Sopher BL, Tapscott SJ, Filippova GN, Pearson CE, La Spada AR. PLoS Genet. 2008 Nov;4(11):e1000257. PMID: 19008940

Neural stem cells from protein tyrosine phosphatase sigma knockout mice generate an altered neuronal phenotype in culture. Kirkham DL, Pacey LK, Axford MM, Siu R, Rotin D, Doering LC. BMC Neurosci. 2006 Jun 19;7:50. PMID: 16784531