Diagnostic criteria for respiratory chain disorders in adults and children FP Bernier, A Boneh, X Dennett, CW Chow, MA Cleary, DR Thorburn Neurology 59 (9), 1406-1411, 2002 | 684 | 2002 |
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 | 428 | 2016 |
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F KN Alagramam, H Yuan, MH Kuehn, CL Murcia, S Wayne, ... Human molecular genetics 10 (16), 1709-1718, 2001 | 340 | 2001 |
Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms ES Regalado, D Guo, C Villamizar, N Avidan, D Gilchrist, B McGillivray, ... Circulation research 109 (6), 680-686, 2011 | 320 | 2011 |
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project CL Beaulieu, J Majewski, J Schwartzentruber, ME Samuels, ... The American Journal of Human Genetics 94 (6), 809-817, 2014 | 280 | 2014 |
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition KM Davey, JS Parboosingh, DR McLeod, A Chan, R Casey, P Ferreira, ... Journal of medical genetics 43 (5), 385-393, 2006 | 280 | 2006 |
Microduplication and triplication of 22q11. 2: a highly variable syndrome TM Yobb, MJ Somerville, L Willatt, HV Firth, K Harrison, J MacKenzie, ... The American Journal of Human Genetics 76 (5), 865-876, 2005 | 275 | 2005 |
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 252 | 2015 |
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ... The American Journal of Human Genetics 89 (6), 713-730, 2011 | 228 | 2011 |
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome FP Bernier, O Caluseriu, S Ng, J Schwartzentruber, KJ Buckingham, ... The American Journal of Human Genetics 90 (5), 925-933, 2012 | 226 | 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 | 222 | 2015 |
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency S Lovric, S Goncalves, HY Gee, B Oskouian, H Srinivas, WI Choi, S Shril, ... The Journal of clinical investigation 127 (3), 912-928, 2017 | 194 | 2017 |
The Alberta Pregnancy Outcomes and Nutrition (APrON) cohort study: rationale and methods BJ Kaplan, GF Giesbrecht, BMY Leung, CJ Field, D Dewey, RC Bell, ... Maternal & child nutrition 10 (1), 44-60, 2014 | 189 | 2014 |
The changing prevalence of autism in three regions of Canada H Ouellette-Kuntz, H Coo, M Lam, MM Breitenbach, PE Hennessey, ... Journal of autism and developmental disorders 44, 120-136, 2014 | 149 | 2014 |
Validation of an obstetric comorbidity index in an external population A Metcalfe, LM Lix, JA Johnson, G Currie, AW Lyon, F Bernier, SC Tough BJOG: An International Journal of Obstetrics & Gynaecology 122 (13), 1748-1755, 2015 | 141 | 2015 |
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in … C Dobson-Stone, RD Cox, L Lonie, L Southam, M Fraser, C Wise, ... European Journal of Human Genetics 8 (1), 24-32, 2000 | 135 | 2000 |
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency R Buchert, H Tawamie, C Smith, S Uebe, AM Innes, B Al Hallak, AB Ekici, ... The American Journal of Human Genetics 95 (5), 602-610, 2014 | 128 | 2014 |
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability N Bögershausen, N Shahrzad, JX Chong, JC von Kleist-Retzow, ... The American Journal of Human Genetics 93 (1), 181-190, 2013 | 127 | 2013 |
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome LM McDonell, GM Mirzaa, D Alcantara, J Schwartzentruber, MT Carter, ... Nature genetics 45 (5), 556-562, 2013 | 119 | 2013 |
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 | 109 | 2017 |