| # | Title | Journal | Year | Citations |
|---|
| 1 | Structural Variation of Chromosomes in Autism Spectrum Disorder | American Journal of Human Genetics | 2008 | 1,641 |
| 2 | The PRECIS-2 tool: designing trials that are fit for purpose | BMJ, The | 2015 | 1,162 |
| 3 | Bacterial co-infection and secondary infection in patients with COVID-19: a living rapid review and meta-analysis | Clinical Microbiology and Infection | 2020 | 1,043 |
| 4 | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes | Nature Genetics | 2012 | 621 |
| 5 | Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities | Nature Genetics | 2008 | 535 |
| 6 | Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants | New England Journal of Medicine | 2012 | 519 |
| 7 | Antibiotic prescribing in patients with COVID-19: rapid review and meta-analysis | Clinical Microbiology and Infection | 2021 | 512 |
| 8 | A Prospective Case Series of High-risk Infants who Developed Autism | Journal of Autism and Developmental Disorders | 2007 | 376 |
| 9 | Interferon Alfacon-1 Plus Corticosteroids in Severe Acute Respiratory Syndrome | JAMA - Journal of the American Medical Association | 2003 | 360 |
| 10 | Detection of Airborne Severe Acute Respiratory Syndrome (SARS) Coronavirus and Environmental Contamination in SARS Outbreak Units | Journal of Infectious Diseases | 2005 | 358 |
| 11 | Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease | JAMA - Journal of the American Medical Association | 2016 | 327 |
| 12 | The Autism Observation Scale for Infants: Scale Development and Reliability Data | Journal of Autism and Developmental Disorders | 2008 | 326 |
| 13 | Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care | Clinical Genetics | 2016 | 323 |
| 14 | Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion | Nature Genetics | 2000 | 297 |
| 15 | Endoscopically removed malignant colorectal polyps: Clinicopathologic correlations | Gastroenterology | 1995 | 276 |
| 16 | Association of neural tube defects and folic acid food fortification in Canada | Lancet, The | 2002 | 263 |
| 17 | Multiple physical and mental health comorbidity in adults with intellectual disabilities: population-based cross-sectional analysis | BMC Family Practice | 2015 | 254 |
| 18 | Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma | Nature Genetics | 1999 | 249 |
| 19 | A Review of Current Guidelines and Best Practice Recommendations for the Management of Nonmuscle Invasive Bladder Cancer by the International Bladder Cancer Group | Journal of Urology | 2011 | 247 |
| 20 | Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis | Prenatal Diagnosis | 2015 | 243 |
| 21 | Angiotensin Receptor Blockers May Increase Risk of Myocardial Infarction | Circulation | 2006 | 226 |
| 22 | Possible SARS Coronavirus Transmission during Cardiopulmonary Resuscitation | Emerging Infectious Diseases | 2004 | 224 |
| 23 | Impact of Infectious Disease Consultation on Quality of Care, Mortality, and Length of Stay in Staphylococcus aureus Bacteremia: Results From a Large Multicenter Cohort Study | Clinical Infectious Diseases | 2015 | 214 |
| 24 | Increased LIS1 expression affects human and mouse brain development | Nature Genetics | 2009 | 199 |
| 25 | A Practical Approach to Classifying and Managing Feeding Difficulties | Pediatrics | 2015 | 195 |
| 26 | RARE TRISOMY MOSAICISM DIAGNOSED IN AMNIOCYTES, INVOLVING AN AUTOSOME OTHER THAN CHROMOSOMES 13, 18, 20, AND 21: KARYOTYPE/PHENOTYPE CORRELATIONS | Prenatal Diagnosis | 1997 | 185 |
| 27 | Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis | Prenatal Diagnosis | 2013 | 181 |
| 28 | Peginterferon lambda for the treatment of outpatients with COVID-19: a phase 2, placebo-controlled randomised trial | Lancet Respiratory Medicine,the | 2021 | 180 |
| 29 | Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell‐free DNA from maternal plasma | Prenatal Diagnosis | 2013 | 173 |
| 30 | Corticosteroids for Bell's palsy (idiopathic facial paralysis) | The Cochrane Library | 2016 | 172 |
| 31 | Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia | American Journal of Human Genetics | 2006 | 170 |
| 32 | Opioid Use After Discharge in Postoperative Patients | Annals of Surgery | 2018 | 169 |
| 33 | Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics | American Journal of Medical Genetics, Part A | 2007 | 158 |
| 34 | Risk-based prenatal screening for trisomy 18 using alpha-fetoprotein, unconjugated oestriol and human chorionic gonadotropin | Prenatal Diagnosis | 1995 | 149 |
| 35 | Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000 | Clinical Genetics | 2003 | 134 |
| 36 | The Importance of Frailty in the Assessment of Influenza Vaccine Effectiveness Against Influenza-Related Hospitalization in Elderly People | Journal of Infectious Diseases | 2017 | 133 |
| 37 | The determinants of home and nursing home death: a systematic review and meta-analysis | BMC Palliative Care | 2016 | 129 |
| 38 | Electrolysis: Observations from 13 years and 140,000 hours of experience | Journal of the American Academy of Dermatology | 1995 | 123 |
| 39 | Left Ventricular Noncompaction | Journal of the American College of Cardiology | 2016 | 118 |
| 40 | Pain After Unilateral Total Knee Arthroplasty: A Prospective Randomized Controlled Trial Examining the Analgesic Effectiveness of a Combined Adductor Canal Peripheral Nerve Block with Periarticular Infiltration Versus Adductor Canal Nerve Block Alone Versus Periarticular Infiltration Alone | Anesthesia and Analgesia | 2016 | 116 |
| 41 | Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy | Human Mutation | 2012 | 115 |
| 42 | Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases | European Journal of Human Genetics | 2015 | 115 |
| 43 | Associations between the uptake of 111In-DTPA-trastuzumab, HER2 density and response to trastuzumab (Herceptin) in athymic mice bearing subcutaneous human tumour xenografts | European Journal of Nuclear Medicine and Molecular Imaging | 2009 | 108 |
| 44 | BCG-unresponsive non-muscle-invasive bladder cancer: recommendations from the IBCG | Nature Reviews Urology | 2017 | 108 |
| 45 | Age-specific risk of fetal loss observed in a second trimester serum screening population | American Journal of Obstetrics and Gynecology | 2005 | 106 |
| 46 | Development and Validation of a Tool to Assess the Quality of Clinical Practice Guideline Recommendations | JAMA Network Open | 2020 | 104 |
| 47 | Transperineal Prostate Biopsies Using Local Anesthesia: Experience with 1,287 Patients. Prostate Cancer Detection Rate, Complications and Patient Tolerability | Journal of Urology | 2019 | 104 |
| 48 | Is the prevalence of peanut allergy increasing? A 5-year follow-up study in children in Montreal | Journal of Allergy and Clinical Immunology | 2009 | 101 |
| 49 | International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation | British Journal of Cancer | 2019 | 101 |
| 50 | Defining Progression in Nonmuscle Invasive Bladder Cancer: It is Time for a New, Standard Definition | Journal of Urology | 2014 | 98 |
