| # | Title | Journal | Year | Citations |
|---|
| 1 | Trends in Care Practices, Morbidity, and Mortality of Extremely Preterm Neonates, 1993-2012 | JAMA - Journal of the American Medical Association | 2015 | 2,008 |
| 2 | Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial | Lancet, The | 2017 | 1,250 |
| 3 | Genetic analysis of genome-wide variation in human gene expression | Nature | 2004 | 1,146 |
| 4 | Insulin antibodies in insulin-dependent diabetics before insulin treatment | Science | 1983 | 1,083 |
| 5 | Effector and memory CD8+ T cell fate coupled by T-bet and eomesodermin | Nature Immunology | 2005 | 1,055 |
| 6 | ACG Clinical Guideline: Evidenced Based Approach to the Diagnosis and Management of Esophageal Eosinophilia and Eosinophilic Esophagitis (EoE) | American Journal of Gastroenterology | 2013 | 983 |
| 7 | Recognition of peptidoglycan from the microbiota by Nod1 enhances systemic innate immunity | Nature Medicine | 2010 | 966 |
| 8 | Hospital and Patient Characteristics Associated With Death After Surgery | Medical Care | 1992 | 801 |
| 9 | De novo mutations in histone-modifying genes in congenital heart disease | Nature | 2013 | 798 |
| 10 | Asymmetric T Lymphocyte Division in the Initiation of Adaptive Immune Responses | Science | 2007 | 777 |
| 11 | Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial | Lancet, The | 2009 | 774 |
| 12 | Evidence for antibody as a protective correlate for COVID-19 vaccines | Vaccine | 2021 | 766 |
| 13 | AMPA receptor antibodies in limbic encephalitis alter synaptic receptor location | Annals of Neurology | 2009 | 712 |
| 14 | Monocytes and Macrophages | New England Journal of Medicine | 1988 | 648 |
| 15 | Insulin-like Growth Factor (IGF)-binding Protein-3 Induces Apoptosis and Mediates the Effects of Transforming Growth Factor-β1 on Programmed Cell Death through a p53- and IGF-independent Mechanism | Journal of Biological Chemistry | 1997 | 646 |
| 16 | Innate Lymphoid Cells Promote Anatomical Containment of Lymphoid-Resident Commensal Bacteria | Science | 2012 | 638 |
| 17 | Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands | Nature Genetics | 2017 | 624 |
| 18 | Safety and activity of crizotinib for paediatric patients with refractory solid tumours or anaplastic large-cell lymphoma: a Children's Oncology Group phase 1 consortium study | Lancet Oncology, The | 2013 | 614 |
| 19 | Making and reading microarrays | Nature Genetics | 1999 | 606 |
| 20 | The Diagnosis of Bronchopulmonary Dysplasia in Very Preterm Infants. An Evidence-based Approach | American Journal of Respiratory and Critical Care Medicine | 2019 | 554 |
| 21 | Mapping determinants of human gene expression by regional and genome-wide association | Nature | 2005 | 550 |
| 22 | Ulk1 plays a critical role in the autophagic clearance of mitochondria and ribosomes during reticulocyte maturation | Blood | 2008 | 524 |
| 23 | A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene | Nature | 2007 | 497 |
| 24 | Megakaryocytes regulate hematopoietic stem cell quiescence through CXCL4 secretion | Nature Medicine | 2014 | 483 |
| 25 | Prediction of complicated disease course for children newly diagnosed with Crohn's disease: a multicentre inception cohort study | Lancet, The | 2017 | 482 |
| 26 | TSLP promotes interleukin-3-independent basophil haematopoiesis and type 2 inflammation | Nature | 2011 | 453 |
| 27 | Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency | Hormone Research in Paediatrics | 2016 | 444 |
| 28 | History of vaccination | Proceedings of the National Academy of Sciences of the United States of America | 2014 | 440 |
| 29 | Management of Ingested Foreign Bodies in Children | Journal of Pediatric Gastroenterology and Nutrition | 2015 | 426 |
| 30 | SARS-CoV-2 Vaccine–Induced Immune Thrombotic Thrombocytopenia | New England Journal of Medicine | 2021 | 412 |
| 31 | Targeting cardiac fibrosis with engineered T cells | Nature | 2019 | 404 |
| 32 | Inhibition of calcium oxalate crystal growth in vitro by uropontin: another member of the aspartic acid-rich protein superfamily. | Proceedings of the National Academy of Sciences of the United States of America | 1992 | 387 |
| 33 | Current Clinical Applications of In Vivo Gene Therapy with AAVs | Molecular Therapy | 2021 | 380 |
| 34 | Characteristics of Adolescents and Youth with Recent-Onset Type 2 Diabetes: The TODAY Cohort at Baseline | Journal of Clinical Endocrinology and Metabolism | 2011 | 378 |
| 35 | An essential role for HLA–DM in antigen presentation by class II major histocompatibility molecules | Nature | 1994 | 376 |
| 36 | Protection of chimpanzees from high-dose heterologous HIV-1 challenge by DNA vaccination | Nature Medicine | 1997 | 372 |
| 37 | HLA-DRB1*1101: A Significant Risk Factor for Sarcoidosis in Blacks and Whites | American Journal of Human Genetics | 2003 | 342 |
| 38 | PYRIDOXINE DEPENDENCY: REPORT OF A CASE OF INTRACTABLE CONVULSIONS IN AN INFANT CONTROLLED BY PYRIDOXINE | Pediatrics | 1954 | 341 |
| 39 | Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype | American Journal of Human Genetics | 2007 | 340 |
| 40 | Whole-brain irradiation and decline in intelligence: the influence of dose and age on IQ score. | Journal of Clinical Oncology | 1992 | 328 |
| 41 | Pdx1 Maintains β Cell Identity and Function by Repressing an α Cell Program | Cell Metabolism | 2014 | 325 |
| 42 | CD19 CAR immune pressure induces B-precursor acute lymphoblastic leukaemia lineage switch exposing inherent leukaemic plasticity | Nature Communications | 2016 | 325 |
| 43 | Prospective multicentre study of pregnancy outcome after lithium exposure during first trimester | Lancet, The | 1992 | 321 |
| 44 | Socioeconomic Inequality in the Prevalence of Autism Spectrum Disorder: Evidence from a U.S. Cross-Sectional Study | PLoS ONE | 2010 | 320 |
| 45 | Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment | Genes and Immunity | 2012 | 318 |
| 46 | ATF4 Regulates MYC-Mediated Neuroblastoma Cell Death upon Glutamine Deprivation | Cancer Cell | 2012 | 309 |
| 47 | Methods to Assess Adverse Childhood Experiences of Children and Families: Toward Approaches to Promote Child Well-being in Policy and Practice | Academic Pediatrics | 2017 | 306 |
| 48 | Integration of cytogenetic landmarks into the draft sequence of the human genome | Nature | 2001 | 302 |
| 49 | Bone Density and Metabolism in Children and Adolescents With Moderate to Severe Cerebral Palsy | Pediatrics | 2002 | 302 |
| 50 | A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome | American Journal of Human Genetics | 1997 | 301 |
