| # | Title | Journal | Year | Citations |
|---|
| 1 | Functional impact of global rare copy number variation in autism spectrum disorders | Nature | 2010 | 1,803 |
| 2 | Austism diagnostic observation schedule: A standardized observation of communicative and social behavior | Journal of Autism and Developmental Disorders | 1989 | 1,716 |
| 3 | Structural Variation of Chromosomes in Autism Spectrum Disorder | American Journal of Human Genetics | 2008 | 1,641 |
| 4 | Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study | Pediatrics | 2011 | 1,088 |
| 5 | Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders | American Journal of Human Genetics | 2014 | 819 |
| 6 | Early brain development in infants at high risk for autism spectrum disorder | Nature | 2017 | 808 |
| 7 | Relaxation of imprinted genes in human cancer | Nature | 1993 | 780 |
| 8 | Gut microbiota of healthy Canadian infants: profiles by mode of delivery and infant diet at 4 months | Cmaj | 2013 | 741 |
| 9 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | Nature Neuroscience | 2017 | 691 |
| 10 | Single phosphorylation sites in Acc1 and Acc2 regulate lipid homeostasis and the insulin-sensitizing effects of metformin | Nature Medicine | 2013 | 674 |
| 11 | How to select outcome measurement instruments for outcomes included in a “Core Outcome Set” – a practical guideline | Trials | 2016 | 659 |
| 12 | Contribution of SHANK3 Mutations to Autism Spectrum Disorder | American Journal of Human Genetics | 2007 | 604 |
| 13 | Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities | Nature | 2012 | 560 |
| 14 | Effectiveness of neuraminidase inhibitors in reducing mortality in patients admitted to hospital with influenza A H1N1pdm09 virus infection: a meta-analysis of individual participant data | Lancet Respiratory Medicine,the | 2014 | 527 |
| 15 | Early Intervention for Children With Autism Spectrum Disorder Under 3 Years of Age: Recommendations for Practice and Research | Pediatrics | 2015 | 510 |
| 16 | Endometrial regenerative cells: A novel stem cell population | Journal of Translational Medicine | 2007 | 496 |
| 17 | Regulation of fatty acid oxidation in the mammalian heart in health and disease | Lipids and Lipid Metabolism | 1994 | 495 |
| 18 | Bronchopulmonary Dysplasia | American Journal of Respiratory and Critical Care Medicine | 2007 | 489 |
| 19 | American College of Critical Care Medicine Clinical Practice Parameters for Hemodynamic Support of Pediatric and Neonatal Septic Shock | Critical Care Medicine | 2017 | 475 |
| 20 | A Follow-Up Study of High-Functioning Autistic Children | Journal of Child Psychology and Psychiatry and Allied Disciplines | 1992 | 470 |
| 21 | Vascular Endothelial Growth Factor Gene Therapy Increases Survival, Promotes Lung Angiogenesis, and Prevents Alveolar Damage in Hyperoxia-Induced Lung Injury | Circulation | 2005 | 470 |
| 22 | Whole-genome sequencing of quartet families with autism spectrum disorder | Nature Medicine | 2015 | 457 |
| 23 | Impact of maternal intrapartum antibiotics, method of birth and breastfeeding on gut microbiota during the first year of life: a prospective cohort study | BJOG: an International Journal of Obstetrics and Gynaecology | 2016 | 453 |
| 24 | The 2013 International Society for Heart and Lung Transplantation Working Formulation for the standardization of nomenclature in the pathologic diagnosis of antibody-mediated rejection in heart transplantation | Journal of Heart and Lung Transplantation | 2013 | 440 |
| 25 | Non-invasive versus invasive respiratory support in preterm infants at birth: systematic review and meta-analysis | BMJ, The | 2013 | 431 |
| 26 | Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing | American Journal of Human Genetics | 2013 | 429 |
| 27 | Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks | Nature Genetics | 2018 | 426 |
| 28 | Host immunoglobulin G selectively identifies pathobionts in pediatric inflammatory bowel diseases | Microbiome | 2019 | 404 |
| 29 | Increased Hepatic CD36 Expression Contributes to Dyslipidemia Associated With Diet-Induced Obesity | Diabetes | 2007 | 395 |
| 30 | Efficacy and safety of exogenous melatonin for secondary sleep disorders and sleep disorders accompanying sleep restriction: meta-analysis | BMJ: British Medical Journal | 2006 | 389 |
| 31 | Effect of calcium-based versus non-calcium-based phosphate binders on mortality in patients with chronic kidney disease: an updated systematic review and meta-analysis | Lancet, The | 2013 | 388 |
| 32 | RasGRP is essential for mouse thymocyte differentiation and TCR signaling | Nature Immunology | 2000 | 382 |
| 33 | Canadian 24-Hour Movement Guidelines for the Early Years (0–4 years): An Integration of Physical Activity, Sedentary Behaviour, and Sleep | BMC Public Health | 2017 | 382 |
| 34 | Inhibiting peripheral serotonin synthesis reduces obesity and metabolic dysfunction by promoting brown adipose tissue thermogenesis | Nature Medicine | 2015 | 376 |
| 35 | Standard 6: Age Groups for Pediatric Trials | Pediatrics | 2012 | 375 |
| 36 | The Efficacy and Safety of Drug Treatments for Chronic Insomnia in Adults: A Meta-analysis of RCTs | Journal of General Internal Medicine | 2007 | 374 |
| 37 | The efficacy and safety of exogenous melatonin for primary sleep disorders a meta-analysis | Journal of General Internal Medicine | 2005 | 366 |
| 38 | Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder | JAMA - Journal of the American Medical Association | 2015 | 352 |
| 39 | PRISMA harms checklist: improving harms reporting in systematic reviews | BMJ, The | 2016 | 351 |
| 40 | Myocardial triglyceride turnover and contribution to energy substrate utilization in isolated working rat hearts | Journal of Biological Chemistry | 1991 | 349 |
| 41 | Incidence and Timing of Presentation of Necrotizing Enterocolitis in Preterm Infants | Pediatrics | 2012 | 348 |
| 42 | AMPK alterations in cardiac physiology and pathology: enemy or ally? | Journal of Physiology | 2006 | 340 |
| 43 | Infant gut microbiota and food sensitization: associations in the first year of life | Clinical and Experimental Allergy | 2015 | 333 |
| 44 | School performance of survivors of neonatal encephalopathy associated with birth asphyxia at term | Journal of Pediatrics | 1989 | 331 |
| 45 | The Autism Observation Scale for Infants: Scale Development and Reliability Data | Journal of Autism and Developmental Disorders | 2008 | 326 |
| 46 | Clinical Assessment and Management of Toddlers With Suspected Autism Spectrum Disorder: Insights From Studies of High-Risk Infants | Pediatrics | 2009 | 318 |
| 47 | Generation of peroxynitrite contributes to ischemia-reperfusion injury in isolated rat hearts | Cardiovascular Research | 1997 | 308 |
| 48 | Determinants of Outcomes After Head Cooling for Neonatal Encephalopathy | Pediatrics | 2007 | 308 |
| 49 | Molecular cloning of the high affinity calcium-binding protein (calreticulin) of skeletal muscle sarcoplasmic reticulum | Journal of Biological Chemistry | 1989 | 308 |
| 50 | Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD | Science Translational Medicine | 2011 | 304 |
