| De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ... Nature genetics 44 (8), 934-940, 2012 | 707 | 2012 |
| De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ... Nature genetics 44 (8), 934-940, 2012 | 707 | 2012 |
| The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists K Boycott, T Hartley, S Adam, F Bernier, K Chong, BA Fernandez, ... Journal of Medical Genetics 52 (7), 431-437, 2015 | 218 | 2015 |
| No. 348-Joint SOGC-CCMG guideline: update on prenatal screening for fetal aneuploidy, fetal anomalies, and adverse pregnancy outcomes F Audibert, I De Bie, JA Johnson, N Okun, RD Wilson, C Armour, ... J Obstet Gynaecol Can 39 (9), 805-17, 2017 | 148 | 2017 |
| Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations P Fergelot, M Van Belzen, J Van Gils, A Afenjar, CM Armour, B Arveiler, ... American Journal of Medical Genetics Part A 170 (12), 3069-3082, 2016 | 125 | 2016 |
| Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations CM Armour, JE Allanson Journal of medical genetics 45 (4), 249-254, 2008 | 121 | 2008 |
| Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing TB Balci, T Hartley, Y Xi, DA Dyment, CL Beaulieu, FP Bernier, L Dupuis, ... Clinical genetics 92 (3), 281-289, 2017 | 107 | 2017 |
| Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit H Daoud, SM Luco, R Li, E Bareke, C Beaulieu, O Jarinova, N Carson, ... Cmaj 188 (11), E254-E260, 2016 | 107 | 2016 |
| Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada CM Armour, SD Dougan, JA Brock, R Chari, BN Chodirker, I DeBie, ... Journal of medical genetics 55 (4), 215-221, 2018 | 101 | 2018 |
| Cardio‐facio‐cutaneous syndrome: does genotype predict phenotype? JE Allanson, G Annerén, Y Aoki, CM Armour, ML Bondeson, H Cave, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2011 | 98 | 2011 |
| Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression C Lowther, M Speevak, CM Armour, ES Goh, GE Graham, C Li, ... Genetics in Medicine 19 (1), 53-61, 2017 | 87 | 2017 |
| Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay H Daoud, D Zhang, F McMurray, A Yu, SM Luco, J Vanstone, O Jarinova, ... Journal of medical genetics 53 (3), 200-207, 2016 | 62 | 2016 |
| RETIRED: Joint SOGC–CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct … RD Wilson, I De Bie, CM Armour, RN Brown, C Campagnolo, JC Carroll, ... Journal of Obstetrics and Gynaecology Canada 38 (8), 742-762. e3, 2016 | 59 | 2016 |
| Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study S Groeneweg, FS van Geest, A Abacı, A Alcantud, GP Ambegaonkar, ... The Lancet Diabetes & Endocrinology 8 (7), 594-605, 2020 | 58 | 2020 |
| Canadian College of Medical Geneticists. The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of … K Boycott, T Hartley, S Adam, F Bernier, K Chong, BA Fernandez, ... J Med Genet 52 (7), 431-437, 2015 | 53 | 2015 |
| Primary care providers’ lived experiences of genetics in practice B Harding, C Webber, L Ruhland, N Dalgarno, CM Armour, R Birtwhistle, ... Journal of community genetics 10, 85-93, 2019 | 51 | 2019 |
| Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata M Nino, C Matos‐Miranda, M Maeda, L Chen, J Allanson, C Armour, ... American Journal of Medical Genetics Part A 146 (8), 997-1008, 2008 | 46 | 2008 |
| 17p13. 3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD) CM Armour, DE Bulman, O Jarinova, RC Rogers, KB Clarkson, ... European journal of human genetics 19 (11), 1144-1151, 2011 | 44 | 2011 |
| Microdeletion on 3p25 in a patient with features of 3p deletion syndrome IT Peltekova, A Macdonald, CM Armour American Journal of Medical Genetics Part A 158 (10), 2583-2586, 2012 | 41 | 2012 |
| The value of diagnostic testing for parents of children with rare genetic diseases DA Marshall, KV MacDonald, S Heidenreich, T Hartley, FP Bernier, ... Genetics in Medicine 21 (12), 2798-2806, 2019 | 40 | 2019 |
