Michelle M. Axford, Ph.D.
Affiliations: | 2012 | Molecular and Medical Genetics | University of Toronto, Toronto, ON, Canada |
Area:
GeneticsGoogle:
"Michelle Axford"Parents
Sign in to add mentor| Christopher E. Pearson | grad student | 2012 | University of Toronto | |
| (An investigation into cis-elements, rare mutations, and slipped-DNA detection at trinucleotide repeat disease-associated loci.) | ||||
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| Bourque DK, Fonseca IC, Staines A, et al. (2019) Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1. American Journal of Medical Genetics. Part A |
| Axford MM, Wang YH, Nakamori M, et al. (2013) Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues. Plos Genetics. 9: e1003866 |
| Axford MM, Pearson CE. (2013) Illuminating CNS and cognitive issues in myotonic dystrophy: Workshop report. Neuromuscular Disorders : Nmd. 23: 370-4 |
| Eyries M, Coulet F, Girerd B, et al. (2012) ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension. Clinical Genetics. 82: 173-9 |
| Axford MM, López-Castel A, Nakamori M, et al. (2011) Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues. Journal of Medical Genetics. 48: 438-43 |
| Libby RT, Hagerman KA, Pineda VV, et al. (2008) CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. Plos Genetics. 4: e1000257 |