| # | Title | Journal | Year | Citations |
|---|
| 1 | The Treatment-Naive Microbiome in New-Onset Crohn’s Disease | Cell Host and Microbe | 2014 | 2,582 |
| 2 | PRESS Peer Review of Electronic Search Strategies: 2015 Guideline Statement | Journal of Clinical Epidemiology | 2016 | 2,530 |
| 3 | Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene | Science | 1992 | 1,614 |
| 4 | Towards complete and accurate reporting of studies of diagnostic accuracy: the STARD initiative | BMJ: British Medical Journal | 2003 | 1,359 |
| 5 | Systematic review of the relationships between objectively measured physical activity and health indicators in school-aged children and youth | Applied Physiology, Nutrition and Metabolism | 2016 | 1,282 |
| 6 | Translational control in stress and apoptosis | Nature Reviews Molecular Cell Biology | 2005 | 1,185 |
| 7 | Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes | Nature | 1996 | 982 |
| 8 | The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy | Cell | 1995 | 969 |
| 9 | Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome | Nature Genetics | 1996 | 732 |
| 10 | Does the CONSORT checklist improve the quality of reports of randomised controlled trials? A systematic review | Medical Journal of Australia | 2006 | 725 |
| 11 | Clinical Risk Score for Persistent Postconcussion Symptoms Among Children With Acute Concussion in the ED | JAMA - Journal of the American Medical Association | 2016 | 628 |
| 12 | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes | Nature Genetics | 2012 | 621 |
| 13 | Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation | Nature Genetics | 1994 | 566 |
| 14 | Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia | Nature | 1990 | 557 |
| 15 | Noncanonical NF-κB activation requires coordinated assembly of a regulatory complex of the adaptors cIAP1, cIAP2, TRAF2 and TRAF3 and the kinase NIK | Nature Immunology | 2008 | 555 |
| 16 | Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities | Nature Genetics | 2008 | 535 |
| 17 | Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations | Nature Genetics | 2014 | 525 |
| 18 | The inhibitors of apoptosis (IAPs) as cancer targets | Apoptosis: an International Journal on Programmed Cell Death | 2007 | 506 |
| 19 | Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines | Pediatrics | 2010 | 503 |
| 20 | Epidemiology and Reporting Characteristics of Systematic Reviews of Biomedical Research: A Cross-Sectional Study | PLoS Medicine | 2016 | 497 |
| 21 | Hypertension Canada’s 2018 Guidelines for Diagnosis, Risk Assessment, Prevention, and Treatment of Hypertension in Adults and Children | Canadian Journal of Cardiology | 2018 | 474 |
| 22 | Both cIAP1 and cIAP2 regulate TNFα-mediated NF-κB activation | Proceedings of the National Academy of Sciences of the United States of America | 2008 | 457 |
| 23 | IAP-targeted therapies for cancer | Oncogene | 2008 | 455 |
| 24 | Eating disorders in adolescent females with and without type 1 diabetes: cross sectional study | BMJ: British Medical Journal | 2000 | 454 |
| 25 | Diagnosis and management of acute myeloid leukemia in children and adolescents: recommendations from an international expert panel | Blood | 2012 | 451 |
| 26 | The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery | Human Mutation | 2015 | 390 |
| 27 | Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1) | Human Molecular Genetics | 1999 | 373 |
| 28 | De Novo Mutations in Moderate or Severe Intellectual Disability | PLoS Genetics | 2014 | 364 |
| 29 | Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy | Nature Genetics | 1992 | 354 |
| 30 | XIAP: apoptotic brake and promising therapeutic target | Apoptosis: an International Journal on Programmed Cell Death | 2001 | 346 |
| 31 | Long-term Complications of Congenital Esophageal Atresia and/or Tracheoesophageal Fistula | Chest | 2004 | 339 |
| 32 | High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies | American Journal of Human Genetics | 2017 | 337 |
| 33 | Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27 | Human Molecular Genetics | 1998 | 331 |
| 34 | Affect Regulation and Addictive Aspects of Repetitive Self-Injury in Hospitalized Adolescents | Journal of the American Academy of Child and Adolescent Psychiatry | 2002 | 327 |
| 35 | Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care | Clinical Genetics | 2016 | 323 |
| 36 | Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib | Nature Genetics | 2005 | 321 |
| 37 | Randomised trial of intravenous immunoglobulin G, intravenous anti-D, and oral prednisone in childhood acute immune thrombocytopenic purpura | Lancet, The | 1994 | 315 |
| 38 | Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project | Genetics in Medicine | 2011 | 308 |
| 39 | Associations Between Active School Transport and Physical Activity, Body Composition, and Cardiovascular Fitness: A Systematic Review of 68 Studies | Journal of Physical Activity and Health | 2014 | 306 |
| 40 | Cost of Chickenpox in Canada: Part I. Cost of Uncomplicated Cases | Pediatrics | 1999 | 305 |
| 41 | Cellular Inhibitors of Apoptosis cIAP1 and cIAP2 Are Required for Innate Immunity Signaling by the Pattern Recognition Receptors NOD1 and NOD2 | Immunity | 2009 | 301 |
| 42 | What is the Relationship between Risky Outdoor Play and Health in Children? A Systematic Review | International Journal of Environmental Research and Public Health | 2015 | 295 |
| 43 | A new internal-ribosome-entry-site motif potentiates XIAP- mediated cytoprotection | Nature Cell Biology | 1999 | 282 |
| 44 | Multiple Combination Bactericidal Testing of Staphylococcal Biofilms from Implant-Associated Infections | Antimicrobial Agents and Chemotherapy | 2006 | 282 |
| 45 | What is the physiological time to recovery after concussion? A systematic review | British Journal of Sports Medicine | 2017 | 281 |
| 46 | When and how to update systematic reviews: consensus and checklist | BMJ, The | 2016 | 277 |
| 47 | Adult mental health outcomes of adolescent depression: A systematic review | Depression and Anxiety | 2018 | 270 |
| 48 | What Is the Relationship between Outdoor Time and Physical Activity, Sedentary Behaviour, and Physical Fitness in Children? A Systematic Review | International Journal of Environmental Research and Public Health | 2015 | 265 |
| 49 | Perk-Dependent Translational Regulation Promotes Tumor Cell Adaptation and Angiogenesis in Response to Hypoxic Stress | Molecular and Cellular Biology | 2006 | 264 |
| 50 | Screen time is associated with depression and anxiety in Canadian youth | Preventive Medicine | 2015 | 264 |
