| # | Title | Journal | Year | Citations |
|---|
| 1 | Standardization of terminology, definitions and outcome criteria in immune thrombocytopenic purpura of adults and children: report from an international working group | Blood | 2009 | 2,128 |
| 2 | DNA methylation-based classification of central nervous system tumours | Nature | 2018 | 1,872 |
| 3 | Behavioral manifestations of autism in the first year of life | International Journal of Developmental Neuroscience | 2005 | 1,301 |
| 4 | Early infancy microbial and metabolic alterations affect risk of childhood asthma | Science Translational Medicine | 2015 | 1,277 |
| 5 | Clinical recommendations for cardiovascular magnetic resonance mapping of T1, T2, T2* and extracellular volume: A consensus statement by the Society for Cardiovascular Magnetic Resonance (SCMR) endorsed by the European Association for Cardiovascular Imaging (EACVI) | Journal of Cardiovascular Magnetic Resonance | 2017 | 1,074 |
| 6 | Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages | Blood | 2016 | 1,040 |
| 7 | International Consensus Guidelines on the Management of Cytomegalovirus in Solid Organ Transplantation | Transplantation | 2010 | 898 |
| 8 | Inhibition of acute lymphoblastic leukaemia by a Jak-2 inhibitor | Nature | 1996 | 879 |
| 9 | Case Definitions, Diagnostic Algorithms, and Priorities in Encephalitis: Consensus Statement of the International Encephalitis Consortium | Clinical Infectious Diseases | 2013 | 792 |
| 10 | 2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups | Annals of the Rheumatic Diseases | 2017 | 754 |
| 11 | Functional variants of OCTN cation transporter genes are associated with Crohn disease | Nature Genetics | 2004 | 749 |
| 12 | Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease | Nature Genetics | 2001 | 730 |
| 13 | Inspiratory Muscle Unloading by Neurally Adjusted Ventilatory Assist During Maximal Inspiratory Efforts in Healthy Subjects | Chest | 2007 | 729 |
| 14 | De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies | Science | 2015 | 646 |
| 15 | Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands | Nature Genetics | 2017 | 624 |
| 16 | Rhabdomyosarcoma | Nature Reviews Disease Primers | 2019 | 619 |
| 17 | Intrafamilial Clustering ofHelicobacter pyloriInfection | New England Journal of Medicine | 1990 | 586 |
| 18 | Metabolic instability of plasmid DNA in the cytosol: a potential barrier to gene transfer | Gene Therapy | 1999 | 576 |
| 19 | Hypoxia-inducible factor-1 mediates the biological effects of oxygen on human trophoblast differentiation through TGFβ3 | Journal of Clinical Investigation | 2000 | 569 |
| 20 | Definitions in hemophilia: communication from the SSC of the ISTH | Journal of Thrombosis and Haemostasis | 2014 | 530 |
| 21 | Brain charts for the human lifespan | Nature | 2022 | 518 |
| 22 | Effect of neonatal circumcision on pain responses during vaccination in boys | Lancet, The | 1995 | 488 |
| 23 | Patterns and Costs of Health Care Use of Children With Medical Complexity | Pediatrics | 2012 | 488 |
| 24 | Prediction of complicated disease course for children newly diagnosed with Crohn's disease: a multicentre inception cohort study | Lancet, The | 2017 | 482 |
| 25 | Variations in Practice and Outcomes in the Canadian NICU Network: 1996–1997 | Pediatrics | 2000 | 471 |
| 26 | Sickle Cell Disease in Africa | American Journal of Preventive Medicine | 2011 | 470 |
| 27 | Populations at risk for severe or complicated influenza illness: systematic review and meta-analysis | BMJ, The | 2013 | 466 |
| 28 | Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency | Frontiers in Immunology | 2014 | 466 |
| 29 | Whole-genome sequencing of quartet families with autism spectrum disorder | Nature Medicine | 2015 | 457 |
| 30 | 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 |
| 31 | Genomewide Search in Canadian Families with Inflammatory Bowel Disease Reveals Two Novel Susceptibility Loci | American Journal of Human Genetics | 2000 | 449 |
| 32 | Clinical Mechanism of the Cystic Fibrosis Transmembrane Conductance Regulator Potentiator Ivacaftor in G551D-mediated Cystic Fibrosis | American Journal of Respiratory and Critical Care Medicine | 2014 | 447 |
| 33 | Randomized Trial Comparing 3 Approaches to the Initial Respiratory Management of Preterm Neonates | Pediatrics | 2011 | 441 |
| 34 | Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing | American Journal of Human Genetics | 2013 | 429 |
| 35 | Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells | Journal of Experimental Medicine | 2008 | 406 |
| 36 | Human immune disorder arising from mutation of the chain of the interleukin-2 receptor | Proceedings of the National Academy of Sciences of the United States of America | 1997 | 380 |
| 37 | Early Language and Communication Development of Infants Later Diagnosed with Autism Spectrum Disorder | Journal of Developmental and Behavioral Pediatrics | 2006 | 379 |
| 38 | Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity | Journal of Experimental Medicine | 2007 | 374 |
| 39 | American Clinical Neurophysiology Society's Standardized Critical Care EEG Terminology: 2021 Version | Journal of Clinical Neurophysiology | 2021 | 370 |
| 40 | Phase 3 Trials of Stereotactic Radiosurgery With or Without Whole-Brain Radiation Therapy for 1 to 4 Brain Metastases: Individual Patient Data Meta-Analysis | International Journal of Radiation Oncology Biology Physics | 2015 | 369 |
| 41 | Team Communications in the Operating Room | Academic Medicine | 2002 | 367 |
| 42 | Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor | Nature Genetics | 1996 | 365 |
| 43 | cIMPACT‐NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT‐Utrecht meeting on future CNS tumor classification and grading | Brain Pathology | 2020 | 363 |
| 44 | Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome | Clinical Cancer Research | 2017 | 358 |
| 45 | Pregnancy outcome following non-obstetric surgical intervention | American Journal of Surgery | 2005 | 357 |
| 46 | Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. | Journal of Clinical Investigation | 1996 | 348 |
| 47 | Incidence and Timing of Presentation of Necrotizing Enterocolitis in Preterm Infants | Pediatrics | 2012 | 348 |
| 48 | Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study | Lancet Oncology, The | 2011 | 345 |
| 49 | Delayed Puberty | New England Journal of Medicine | 2012 | 344 |
| 50 | High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies | American Journal of Human Genetics | 2017 | 337 |
