Christine M. Armour

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 737 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Kym M. Boycott, Taila Hartley, Shelin Adam et al. · Journal of Medical Genetics · 2015 · 228 citations · Full text

RETIRED: No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes

François Audibert, Isabelle De Bie, Jo-Ann Johnson et al. · Journal of Obstetrics and Gynaecology Canada · 2017 · 139 citations

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations

Patricia Fergelot, Martine van Belzen, Julien Van‐Gils et al. · American Journal of Medical Genetics Part A · 2016 · 122 citations

Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

Christine M. Armour, Shelley Dougan, Jo‐Ann Brock et al. · Journal of Medical Genetics · 2018 · 119 citations · Full text