Sebastien Levesque

Summary

Country: Canada

Publications

  1. pmc 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. pmc A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population
    Sebastien Levesque
    Department of Pediatrics, Universite de Sherbrooke, Sherbrooke, Canada
    BMC Med Genet 13:72. 2012

Collaborators

  • Yannis J Trakadis
  • Hugo Larochelle
  • Caroline Buote
  • Jean Fran├žois Therriault
  • Pierre Etienne Jacques

Detail Information

Publications2

  1. pmc 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. pmc A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population
    Sebastien Levesque
    Department of Pediatrics, Universite de Sherbrooke, Sherbrooke, Canada
    BMC Med Genet 13:72. 2012
    ..Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this remains unsolved...