David Eugeny Godler

Summary

Affiliation: Royal Children's Hospital
Country: Australia

Publications

  1. pmc Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty
    David E Godler
    Cyto molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens research Institute, Royal Children s Hospital, Melbourne, Victoria 3052, Australia
    Hum Mol Genet 22:1516-24. 2013
  2. doi request reprint Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study
    David E Godler
    Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    Clin Chem 58:590-8. 2012
  3. pmc Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders
    David E Godler
    Chromosome and Chromatin Research, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    BMC Clin Pathol 9:5. 2009
  4. pmc Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio
    David Eugeny Godler
    Chromosome and Chromatin Research Laboratory, The Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Victoria 3052, Australia
    Hum Mol Genet 19:1618-32. 2010
  5. pmc FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles
    David E Godler
    Victorian Clinical Genetic Services, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    J Mol Diagn 13:528-36. 2011

Detail Information

Publications5

  1. pmc Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty
    David E Godler
    Cyto molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens research Institute, Royal Children s Hospital, Melbourne, Victoria 3052, Australia
    Hum Mol Genet 22:1516-24. 2013
    ..The findings also highlight that the prognostic value of FXS methylation testing is not uniform between all CpG sites, and thus may need to be evaluated on a site-by-site basis...
  2. doi request reprint Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study
    David E Godler
    Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    Clin Chem 58:590-8. 2012
    ..A detailed analysis of CpG sites bridging exon 1 and intron 1 of FMR1, known as fragile X-related epigenetic element 2 (FREE2), suggests that a simple blood test could identify these individuals...
  3. pmc Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders
    David E Godler
    Chromosome and Chromatin Research, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    BMC Clin Pathol 9:5. 2009
    ..Although, this strategy clearly has application for improved assessment of FMR1 mRNA toxicity in blood, it may also have more general implications for gene expression studies in fresh and archival tissues...
  4. pmc Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio
    David Eugeny Godler
    Chromosome and Chromatin Research Laboratory, The Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Victoria 3052, Australia
    Hum Mol Genet 19:1618-32. 2010
    ..Considering its high-throughput and specificity for pathogenic FM alleles, low cost and minimal DNA requirements, FREE MALDI-TOF MS offers a unique tool in FXS diagnostics and newborn population screening...
  5. pmc FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles
    David E Godler
    Victorian Clinical Genetic Services, Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    J Mol Diagn 13:528-36. 2011
    ..Because matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry is amenable to high-throughput processing and requires minimal DNA, these findings have implications for routine FXS testing and population screening...