| # | Title | Journal | Year | Citations |
|---|
| 1 | Guidelines for the Diagnosis and Management of Food Allergy in the United States: Summary of the NIAID-Sponsored Expert Panel Report | Journal of Allergy and Clinical Immunology | 2010 | 1,614 |
| 2 | Revision and Update of the Consensus Definitions of Invasive Fungal Disease From the European Organization for Research and Treatment of Cancer and the Mycoses Study Group Education and Research Consortium | Clinical Infectious Diseases | 2020 | 1,429 |
| 3 | A copy number variation morbidity map of developmental delay | Nature Genetics | 2011 | 1,141 |
| 4 | Metabolic Regulation of T Lymphocytes | Annual Review of Immunology | 2013 | 1,050 |
| 5 | The severity of nonalcoholic fatty liver disease is associated with gut dysbiosis and shift in the metabolic function of the gut microbiota | Hepatology | 2016 | 1,029 |
| 6 | Global guideline for the diagnosis and management of mucormycosis: an initiative of the European Confederation of Medical Mycology in cooperation with the Mycoses Study Group Education and Research Consortium | Lancet Infectious Diseases, The | 2019 | 970 |
| 7 | A Mutation in the TRPC6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis | Science | 2005 | 967 |
| 8 | Highly specific epigenome editing by CRISPR-Cas9 repressors for silencing of distal regulatory elements | Nature Methods | 2015 | 808 |
| 9 | The Role of Scgb1a1+ Clara Cells in the Long-Term Maintenance and Repair of Lung Airway, but Not Alveolar, Epithelium | Cell Stem Cell | 2009 | 793 |
| 10 | An Exclusively Human Milk-Based Diet Is Associated with a Lower Rate of Necrotizing Enterocolitis than a Diet of Human Milk and Bovine Milk-Based Products | Journal of Pediatrics | 2010 | 782 |
| 11 | Enhanced Myocardial Function in Transgenic Mice Overexpressing the β 2 -Adrenergic Receptor | Science | 1994 | 721 |
| 12 | Food hypersensitivity and atopic dermatitis: Evaluation of 113 patients | Journal of Pediatrics | 1985 | 696 |
| 13 | Recombinant human acid -glucosidase: Major clinical benefits in infantile-onset Pompe disease | Neurology | 2007 | 696 |
| 14 | Hematopoietic Stem-Cell Transplantation for the Treatment of Severe Combined Immunodeficiency | New England Journal of Medicine | 1999 | 682 |
| 15 | TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells | Nature | 2004 | 657 |
| 16 | Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma | Nature | 1988 | 629 |
| 17 | Oral Immunotherapy for Treatment of Egg Allergy in Children | New England Journal of Medicine | 2012 | 606 |
| 18 | Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination | Nature Genetics | 2003 | 582 |
| 19 | Conotruncal myocardium arises from a secondary heart field | Development (Cambridge) | 2001 | 573 |
| 20 | Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities | Nature | 2012 | 560 |
| 21 | A randomized, double-blind, placebo-controlled study of milk oral immunotherapy for cow's milk allergy | Journal of Allergy and Clinical Immunology | 2008 | 520 |
| 22 | Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants | Journal of Pediatrics | 1997 | 515 |
| 23 | A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease | Journal of Pediatrics | 2006 | 500 |
| 24 | MolecularDefects inHumanSevereCombinedImmunodeficiency andApproaches toImmuneReconstitution | Annual Review of Immunology | 2004 | 488 |
| 25 | A randomized controlled study of peanut oral immunotherapy: Clinical desensitization and modulation of the allergic response | Journal of Allergy and Clinical Immunology | 2011 | 488 |
| 26 | The Incubator and the Medical Discovery of the Premature Infant | Journal of Perinatology | 2000 | 452 |
| 27 | Practice parameter for the diagnosis and management of primary immunodeficiency | Annals of Allergy, Asthma and Immunology | 2005 | 452 |
| 28 | Chronic Enteroviral Meningoencephalitis in Agammaglobulinemic Patients | Clinical Infectious Diseases | 1987 | 423 |
| 29 | Bone Marrow–generated Dendritic Cells Pulsed with Tumor Extracts or Tumor RNA Induce Antitumor Immunity against Central Nervous System Tumors | Journal of Experimental Medicine | 1997 | 419 |
| 30 | Role of Echocardiography in Evaluation of Patients With Staphylococcus aureusBacteremia: Experience in 103 Patients | Journal of the American College of Cardiology | 1997 | 406 |
| 31 | Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights | Nature Genetics | 2018 | 406 |
| 32 | Glucose metabolism in lymphocytes is a regulated process with significant effects on immune cell function and survival | Journal of Leukocyte Biology | 2008 | 398 |
| 33 | Increasing incidence of primary brain lymphoma in the US | Cancer | 1988 | 396 |
| 34 | 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 |
| 35 | Placental hormones and the control of maternal metabolism and fetal growth | Current Opinion in Endocrinology, Diabetes and Obesity | 2011 | 374 |
| 36 | Fgf8is required for pharyngeal arch and cardiovascular development in the mouse | Development (Cambridge) | 2002 | 370 |
| 37 | The Effects of Metformin on Body Mass Index and Glucose Tolerance in Obese Adolescents With Fasting Hyperinsulinemia and a Family History of Type 2 Diabetes | Pediatrics | 2001 | 367 |
| 38 | An item response analysis of the pediatric PROMIS anxiety and depressive symptoms scales | Quality of Life Research | 2010 | 365 |
| 39 | CRISPR–Cas9 epigenome editing enables high-throughput screening for functional regulatory elements in the human genome | Nature Biotechnology | 2017 | 362 |
| 40 | The FMR1 premutation and reproduction | Fertility and Sterility | 2007 | 360 |
| 41 | Egg oral immunotherapy in nonanaphylactic children with egg allergy | Journal of Allergy and Clinical Immunology | 2007 | 357 |
| 42 | Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants | Molecular Genetics and Metabolism | 2010 | 348 |
| 43 | Efficacy of topoisomerase I inhibitors, topotecan and irinotecan, administered at low dose levels in protracted schedules to mice bearing xenografts of human tumors | Cancer Chemotherapy and Pharmacology | 1995 | 331 |
| 44 | Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients | American Journal of Human Genetics | 2003 | 327 |
| 45 | International consensus on (ICON) pediatric asthma | Allergy: European Journal of Allergy and Clinical Immunology | 2012 | 327 |
| 46 | Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry | Clinical Chemistry | 1993 | 325 |
| 47 | Sublingual immunotherapy for peanut allergy: Clinical and immunologic evidence of desensitization | Journal of Allergy and Clinical Immunology | 2011 | 324 |
| 48 | Influence of the passive anisotropic properties on directional differences in propagation following modification of the sodium conductance in human atrial muscle. A model of reentry based on anisotropic discontinuous propagation. | Circulation Research | 1988 | 323 |
| 49 | Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics | Genetics in Medicine | 2014 | 318 |
| 50 | The Use of Intravenous Immune Globulin in Immunodeficiency Diseases | New England Journal of Medicine | 1991 | 317 |
