Researcher

Title

• Director of the Prenatal Cytogenetics Laboratory
• Cytogeneticist
• MD Geneticist, Medical Genetics Service, Department of Pediatrics, CHU Sainte-Justine
• Assistant Clinical Professor, Department of Pediatrics, University of Montreal

• Subtelomeric rearrangements in a patient population with mental retardation and dysmorphia. Funded by the Réseau de médecine génétique appliquée of the Fonds de recherche en santé du Québec (FRSQ), Cytogenetics Research Axis. Coordinator for CHU Sainte-Justine.
• Y-chromosome rearrangements. Genotype-phenotype correlation by fine mapping break points using fluorescence in situ hybridization (FISH) with BAC of the Y chromosome. Study funded by the Réseau de médecine génétique appliquée of the FRSQ, Cytogenetics Research Axis.
• Comparative study of the PRINS and FISH techniques on interphase nuclei of amniocytes.
• Creation of a research group on diagnosis and prenatal screening (GRDDP). Funded by the Mother-Child Network of the FRSQ.
• Prenatal cytogenetic diagnosis using fetal cells circulating in the mother’s blood.
• Evaluative study of first trimester combined noninvasive screening for trisomy 21. Multidisciplinary project at CHU Sainte-Justine.