| # | Title | Journal | Year | Citations |
|---|
| 1 | Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies | Science Translational Medicine | 2014 | 3,665 |
| 2 | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci | Nature Genetics | 2010 | 2,284 |
| 3 | Prediction of central nervous system embryonal tumour outcome based on gene expression | Nature | 2002 | 2,154 |
| 4 | Beyond aerobic glycolysis: Transformed cells can engage in glutamine metabolism that exceeds the requirement for protein and nucleotide synthesis | Proceedings of the National Academy of Sciences of the United States of America | 2007 | 2,127 |
| 5 | Myc regulates a transcriptional program that stimulates mitochondrial glutaminolysis and leads to glutamine addiction | Proceedings of the National Academy of Sciences of the United States of America | 2008 | 1,655 |
| 6 | Chimeric antigen receptor T cells persist and induce sustained remissions in relapsed refractory chronic lymphocytic leukemia | Science Translational Medicine | 2015 | 1,402 |
| 7 | Autism genome-wide copy number variation reveals ubiquitin and neuronal genes | Nature | 2009 | 1,270 |
| 8 | Identification of ALK as a major familial neuroblastoma predisposition gene | Nature | 2008 | 1,207 |
| 9 | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 | Nature Genetics | 2011 | 1,201 |
| 10 | Genetic analysis of genome-wide variation in human gene expression | Nature | 2004 | 1,146 |
| 11 | Blockade of Microglial Activation Is Neuroprotective in the 1-Methyl-4-Phenyl-1,2,3,6-Tetrahydropyridine Mouse Model of Parkinson Disease | Journal of Neuroscience | 2002 | 1,124 |
| 12 | The DNA sequence of human chromosome 22 | Nature | 1999 | 1,086 |
| 13 | ACG Clinical Guideline: Evidenced Based Approach to the Diagnosis and Management of Esophageal Eosinophilia and Eosinophilic Esophagitis (EoE) | American Journal of Gastroenterology | 2013 | 983 |
| 14 | Anti–N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis in children and adolescents | Annals of Neurology | 2009 | 969 |
| 15 | Assessing substrates underlying the behavioral effects of antidepressants using the modified rat forced swimming test | Neuroscience and Biobehavioral Reviews | 2005 | 935 |
| 16 | Common genetic variants on 5p14.1 associate with autism spectrum disorders | Nature | 2009 | 912 |
| 17 | Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee | Journal of Clinical Immunology | 2020 | 881 |
| 18 | Serotonin1A receptor acts during development to establish normal anxiety-like behaviour in the adult | Nature | 2002 | 866 |
| 19 | ILAE Treatment Guidelines: Evidence-based Analysis of Antiepileptic Drug Efficacy and Effectiveness as Initial Monotherapy for Epileptic Seizures and Syndromes | Epilepsia | 2006 | 782 |
| 20 | Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial | Lancet, The | 2009 | 774 |
| 21 | International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity | Journal of Clinical Immunology | 2018 | 732 |
| 22 | New Intrauterine Growth Curves Based on United States Data | Pediatrics | 2010 | 720 |
| 23 | Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors | Cancer Research | 1999 | 661 |
| 24 | The Genetic Landscape of the Childhood Cancer Medulloblastoma | Science | 2011 | 652 |
| 25 | Innate Lymphoid Cells Promote Anatomical Containment of Lymphoid-Resident Commensal Bacteria | Science | 2012 | 638 |
| 26 | Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 | Journal of Clinical Immunology | 2015 | 621 |
| 27 | 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 |
| 28 | mRNA vaccines induce durable immune memory to SARS-CoV-2 and variants of concern | Science | 2021 | 609 |
| 29 | CD19-targeted chimeric antigen receptor T-cell therapy for acute lymphoblastic leukemia | Blood | 2015 | 598 |
| 30 | Adverse Childhood Experiences | American Journal of Preventive Medicine | 2015 | 595 |
| 31 | Use of intravenous immunoglobulin in human disease: A review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology | Journal of Allergy and Clinical Immunology | 2006 | 574 |
| 32 | Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome | Blood | 2011 | 572 |
| 33 | The Diagnosis of Bronchopulmonary Dysplasia in Very Preterm Infants. An Evidence-based Approach | American Journal of Respiratory and Critical Care Medicine | 2019 | 554 |
| 34 | Long-term correction of canine hemophilia B by gene transfer of blood coagulation factor IX mediated by adeno-associated viral vector | Nature Medicine | 1999 | 549 |
| 35 | Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources | Nucleic Acids Research | 2019 | 539 |
| 36 | Frequency of 22q11 deletions in patients with conotruncal defects | Journal of the American College of Cardiology | 1998 | 527 |
| 37 | Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification | Journal of Clinical Immunology | 2020 | 525 |
| 38 | Ulk1 plays a critical role in the autophagic clearance of mitochondria and ribosomes during reticulocyte maturation | Blood | 2008 | 524 |
| 39 | A pilot study of ex vivo gene therapy for homozygous familial hypercholesterolaemia | Nature Medicine | 1995 | 515 |
| 40 | Development of type 2 diabetes following intrauterine growth retardation in rats is associated with progressive epigenetic silencing of Pdx1 | Journal of Clinical Investigation | 2008 | 515 |
| 41 | Ewing's sarcoma | Lancet Oncology, The | 2010 | 514 |
| 42 | Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes | Lancet, The | 2007 | 513 |
| 43 | The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies | Journal of Clinical Immunology | 2018 | 488 |
| 44 | Megakaryocytes regulate hematopoietic stem cell quiescence through CXCL4 secretion | Nature Medicine | 2014 | 483 |
| 45 | Stable gene transfer and expression of human blood coagulation factor IX after intramuscular injection of recombinant adeno-associated virus | Proceedings of the National Academy of Sciences of the United States of America | 1997 | 480 |
| 46 | 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 |
| 47 | Importance of Different Pathways of Cellular Cholesterol Efflux | Arteriosclerosis, Thrombosis, and Vascular Biology | 2003 | 460 |
| 48 | Reslizumab in children and adolescents with eosinophilic esophagitis: Results of a double-blind, randomized, placebo-controlled trial | Journal of Allergy and Clinical Immunology | 2012 | 455 |
| 49 | TSLP promotes interleukin-3-independent basophil haematopoiesis and type 2 inflammation | Nature | 2011 | 453 |
| 50 | Practice parameter for the diagnosis and management of primary immunodeficiency | Annals of Allergy, Asthma and Immunology | 2005 | 452 |
