Sebastien Levesque

Summary

Country: Canada

Publications

  1. doi request reprint Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
    Sebastien Levesque
    Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine and Health Sciences, Universite de Sherbrooke, and Centre Hospitalier Universitaire de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4, Canada
    Orphanet J Rare Dis 11:8. 2016
  2. 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
  3. 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
  • Pierre Etienne Jacques
  • Caroline Buote
  • Jean Fran├žois Therriault
  • Hugo Larochelle

Detail Information

Publications3

  1. doi request reprint Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
    Sebastien Levesque
    Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine and Health Sciences, Universite de Sherbrooke, and Centre Hospitalier Universitaire de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4, Canada
    Orphanet J Rare Dis 11:8. 2016
    ..Next-generation sequencing has the capability to test concurrently for several muscle disorders. This could potentially lead to increased diagnosis of LOPD, disorders with non-specific muscle weakness or atypical patients...
  2. 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...
  3. 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...