| Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ... Clinical genetics 89 (3), 275-284, 2016 | 419 | 2016 |
| 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 | 219 | 2015 |
| A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3 D Schepers, G Tortora, H Morisaki, G MacCarrick, M Lindsay, D Liang, ... Human mutation 39 (5), 621-634, 2018 | 139 | 2018 |
| The responsibility to recontact research participants after reinterpretation of genetic and genomic research results Y Bombard, KB Brothers, S Fitzgerald-Butt, G Nanibaa’A, L Jamal, ... The American Journal of Human Genetics 104 (4), 578-595, 2019 | 118 | 2019 |
| Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections JAN Meester, G Vandeweyer, I Pintelon, M Lammens, L Van Hoorick, ... Genetics in Medicine 19 (4), 386-395, 2017 | 116 | 2017 |
| 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 | 108 | 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 | 108 | 2016 |
| De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes MC Gil‐Rodríguez, MA Deardorff, M Ansari, CA Tan, I Parenti, ... Human mutation 36 (4), 454-462, 2015 | 108 | 2015 |
| Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases E Kleiderman, BM Knoppers, CV Fernandez, KM Boycott, G Ouellette, ... Journal of Medical Ethics 40 (10), 691-696, 2014 | 100 | 2014 |
| Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations ES Regalado, L Mellor-Crummey, J De Backer, AC Braverman, L Ades, ... Genetics in Medicine 20 (10), 1206-1215, 2018 | 63 | 2018 |
| Mandibulofacial dysostosis with microcephaly: mutation and database update L Huang, MR Vanstone, T Hartley, M Osmond, N Barrowman, J Allanson, ... Human mutation 37 (2), 148-154, 2016 | 63 | 2016 |
| R179H mutation in ACTA2 expanding the phenotype to include prune‐belly sequence and skin manifestations J Richer, DM Milewicz, R Gow, J De Nanassy, G Maharajh, E Miller, ... American Journal of Medical Genetics Part A 158 (3), 664-668, 2012 | 60 | 2012 |
| 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 |
| Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature … KD Kernohan, M Tétreault, U Liwak-Muir, MT Geraghty, W Qin, ... Human molecular genetics 24 (22), 6293-6300, 2015 | 46 | 2015 |
| Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype E Cannaerts, M Kempers, A Maugeri, C Marcelis, T Gardeitchik, J Richer, ... Journal of Medical Genetics 56 (4), 220-227, 2019 | 38 | 2019 |
| Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome TB Balci, J Davila, D Lewis, A Boafo, E Sell, J Richer, SM Nikkel, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 …, 2018 | 38 | 2018 |
| Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit. KD Kernohan, T Hartley, S Naumenko, CM Armour, GE Graham, ... American Journal of Medical Genetics. Part A 176 (7), 1688-1691, 2018 | 35 | 2018 |
| Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort F Malam, T Hartley, MK Gillespie, CM Armour, E Bariciak, GE Graham, ... American Journal of Medical Genetics Part A 173 (7), 1839-1847, 2017 | 34 | 2017 |
| The hemoglobinopathies and malaria: Section Editor: Albert E. Chudley, email: achudley@ hsc. mb. ca J Richer, AE Chudley Clinical genetics 68 (4), 332-336, 2005 | 34 | 2005 |
| A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia J Richer, HL Hill, Y Wang, ML Yang, KL Hunker, J Lane, S Blackburn, ... Arteriosclerosis, thrombosis, and vascular biology 40 (11), 2686-2699, 2020 | 32 | 2020 |
