Year |
Citation |
Score |
2019 |
Bourque DK, Fonseca IC, Staines A, Teitelbaum R, Axford MM, Jobling R, Chiasson D, Chitayat D. 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. PMID 31074124 DOI: 10.1002/Ajmg.A.61162 |
0.317 |
|
2013 |
Axford MM, Wang YH, Nakamori M, Zannis-Hadjopoulos M, Thornton CA, Pearson CE. Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues. Plos Genetics. 9: e1003866. PMID 24367268 DOI: 10.1371/Journal.Pgen.1003866 |
0.615 |
|
2013 |
Axford MM, Pearson CE. Illuminating CNS and cognitive issues in myotonic dystrophy: Workshop report. Neuromuscular Disorders : Nmd. 23: 370-4. PMID 23453858 DOI: 10.1016/J.Nmd.2013.01.003 |
0.498 |
|
2012 |
Eyries M, Coulet F, Girerd B, Montani D, Humbert M, Lacombe P, Chinet T, Gouya L, Roume J, Axford MM, Pearson CE, Soubrier F. ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension. Clinical Genetics. 82: 173-9. PMID 21651515 DOI: 10.1111/J.1399-0004.2011.01727.X |
0.62 |
|
2011 |
Axford MM, López-Castel A, Nakamori M, Thornton CA, Pearson CE. Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues. Journal of Medical Genetics. 48: 438-43. PMID 21622935 DOI: 10.1136/Jmg.2010.085944 |
0.625 |
|
2008 |
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. CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. Plos Genetics. 4: e1000257. PMID 19008940 DOI: 10.1371/Journal.Pgen.1000257 |
0.469 |
|
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