Yannis J Trakadis

Summary

Affiliation: McGill University
Country: Canada

Publications

  1. ncbi request reprint PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes
    Yannis J Trakadis
    Department of Medical Genetics, McGill University Health Centre, Montreal, Canada
    BMC Med Genomics 7:22. 2014
  2. ncbi request reprint Update on transcobalamin deficiency: clinical presentation, treatment and outcome
    Y J Trakadis
    Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada
    J Inherit Metab Dis 37:461-73. 2014
  3. pmc Patient-controlled encrypted genomic data: an approach to advance clinical genomics
    Yannis J Trakadis
    Department of Medical Genetics, Montreal Children s Hospital McGill University Health Centre, 2300 Tupper, Montreal, QC, Canada
    BMC Med Genomics 5:31. 2012

Collaborators

Detail Information

Publications3

  1. ncbi request reprint PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes
    Yannis J Trakadis
    Department of Medical Genetics, McGill University Health Centre, Montreal, Canada
    BMC Med Genomics 7:22. 2014
    ..PhenoVar filtered the search using a cut-off phenotypic match threshold to prevent undesired discovery of incidental findings and ranked the OMIM entries according to diagnostic score...
  2. ncbi request reprint Update on transcobalamin deficiency: clinical presentation, treatment and outcome
    Y J Trakadis
    Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada
    J Inherit Metab Dis 37:461-73. 2014
    ..Most centres adjusted the treatment regimen based on monitoring CBC, total plasma homocysteine, plasma and urine methylmalonic acid, as well as, clinical status. Finally, continuing IM treatment into adulthood appears to be beneficial. ..
  3. pmc Patient-controlled encrypted genomic data: an approach to advance clinical genomics
    Yannis J Trakadis
    Department of Medical Genetics, Montreal Children s Hospital McGill University Health Centre, 2300 Tupper, Montreal, QC, Canada
    BMC Med Genomics 5:31. 2012
    ..It appears that medical genetics is shifting from the present "phenotype-first" medical model to a "data-first" model which leads to multiple complexities...