Paul A James

Summary

Affiliation: Genetic Health Services Victoria
Country: Australia

Publications

  1. ncbi Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study
    Paul A James
    Genetic Health Services Victoria, Murdoch Children s Research Institute, Melbourne, Australia
    Genes Chromosomes Cancer 48:533-8. 2009
  2. ncbi High-level 46XX/46XY chimerism without clinical effect in a healthy multiparous female
    Paul A James
    Genetic Health Services Victoria, Murdoch Children s Research Institute, Melbourne, Victoria, Australia
    Am J Med Genet A 155:2484-8. 2011
  3. ncbi Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays
    Damien L Bruno
    VCGS Cytogenetics Laboratory, Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Australia
    Hum Mutat 32:1500-6. 2011
  4. ncbi Optimal selection of individuals for BRCA mutation testing: a comparison of available methods
    Paul A James
    Familial Cancer Centre, Murdoch Children s Research Institute, Melbourne, Australia
    J Clin Oncol 24:707-15. 2006
  5. ncbi Phenotypic variability of distal 22q11.2 copy number abnormalities
    Tiong Yang Tan
    Genetic Health Services Victoria, Melbourne, Australia
    Am J Med Genet A 155:1623-33. 2011

Collaborators

  • Marion Harris
  • Tony Roscioli
  • Damien L Bruno
  • Zornitza Stark
  • Devika Ganesamoorthy
  • Trent Burgess
  • Tiong Yang Tan
  • David J Amor
  • Howard R Slater
  • Darren O'Rielly
  • Louise Hills
  • Richard J Leventer
  • Peter G Farlie
  • George McGillivray
  • John A Crolla
  • Christopher T Gordon
  • Kathy Butler
  • Krishnamurthy Prabhakara
  • Amanda Collins
  • Kate Pope
  • Ravi Savarirayan
  • Ralph Oertel
  • Nicholas Salce
  • Robin Forbes
  • Sylvea Corrie
  • David Francis

Detail Information

Publications5

  1. ncbi Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study
    Paul A James
    Genetic Health Services Victoria, Murdoch Children s Research Institute, Melbourne, Australia
    Genes Chromosomes Cancer 48:533-8. 2009
    ..These results provide clinical reassurance that at present there is no evidence for breast cancer screening above standard practice for individuals with SCS...
  2. ncbi High-level 46XX/46XY chimerism without clinical effect in a healthy multiparous female
    Paul A James
    Genetic Health Services Victoria, Murdoch Children s Research Institute, Melbourne, Victoria, Australia
    Am J Med Genet A 155:2484-8. 2011
    ....
  3. ncbi Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays
    Damien L Bruno
    VCGS Cytogenetics Laboratory, Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Australia
    Hum Mutat 32:1500-6. 2011
    ..The importance of astute clinical assessment and laboratory-clinician consultation is emphasized to optimize the value of microarrays in the diagnosis of disorders caused by single gene copy number and sequence mutations...
  4. ncbi Optimal selection of individuals for BRCA mutation testing: a comparison of available methods
    Paul A James
    Familial Cancer Centre, Murdoch Children s Research Institute, Melbourne, Australia
    J Clin Oncol 24:707-15. 2006
    ..We examined the performance of six different methods with the aim of identifying an optimal strategy for selecting individuals for mutation testing in clinical practice...
  5. ncbi Phenotypic variability of distal 22q11.2 copy number abnormalities
    Tiong Yang Tan
    Genetic Health Services Victoria, Melbourne, Australia
    Am J Med Genet A 155:1623-33. 2011
    ..Patients with distal chromosome 22q11.2 copy number abnormalities exhibit inter- and intra-familial phenotypic variability, and challenge our ability to draw meaningful genotype-phenotype correlations...