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Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomesArticle de revue
Front Genet, 13 , 2022.
A Collaborative Model to Implement Flexible, Accessible and Efficient Oncogenetic Services for Hereditary Breast and Ovarian Cancer: The C-MOnGene StudyArticle de revue
Cancers (Basel), 13 (11), 2021.
Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS studyArticle de revue
Eur J Hum Genet, 27 (11), 2019.
Cell-Free DNA-Based Non-invasive Prenatal Screening for Common Aneuploidies in a Canadian Province: A Cost-Effectiveness AnalysisArticle de revue
J Obstet Gynaecol Can, 40 (1), 2018.
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndromeArticle de revue
Eur J Hum Genet, 25 (4), 2017.
Comparison of first-tier cell-free DNA screening for common aneuploidies with conventional publically funded screeningArticle de revue
Prenat Diagn, 37 (12), 2017.
Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issuesArticle de revue
Appl Clin Genet, 9 , 2016.
Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestationsArticle de revue
Am J Med Genet A, 170A (4), 2016.
Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasmaArticle de revue
Appl Clin Genet, 7 , 2014.
Cost effectiveness of newborn screening for cystic fibrosis: a simulation studyArticle de revue
J Cyst Fibros, 13 (3), 2014.