| # | Title | Journal | Year | Citations |
|---|
| 1 | Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase | Nature Genetics | 1995 | 1,609 |
| 2 | Brain development in rodents and humans: Identifying benchmarks of maturation and vulnerability to injury across species | Progress in Neurobiology | 2013 | 1,543 |
| 3 | Sustained efficacy up to 4·5 years of a bivalent L1 virus-like particle vaccine against human papillomavirus types 16 and 18: follow-up from a randomised control trial | Lancet, The | 2006 | 1,395 |
| 4 | Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase | Nature Genetics | 1993 | 1,348 |
| 5 | The Circulation of the Fetus in Utero | Circulation Research | 1967 | 1,296 |
| 6 | Prader-Willi syndrome | Genetics in Medicine | 2012 | 1,040 |
| 7 | American Cancer Society, American Society for Colposcopy and Cervical Pathology, and American Society for Clinical Pathology screening guidelines for the prevention and early detection of cervical cancer | Ca-A Cancer Journal for Clinicians | 2012 | 1,022 |
| 8 | Rat forebrain neurogenesis and striatal neuron replacement after focal stroke | Annals of Neurology | 2002 | 973 |
| 9 | 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 |
| 10 | Type 2 innate lymphoid cells control eosinophil homeostasis | Nature | 2013 | 861 |
| 11 | International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity | Journal of Clinical Immunology | 2018 | 732 |
| 12 | Incidence of congenital heart disease: I. Postnatal incidence | Pediatric Cardiology | 1995 | 714 |
| 13 | The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia | Nature Genetics | 2017 | 693 |
| 14 | The developmental genetics of congenital heart disease | Nature | 2008 | 673 |
| 15 | A New Definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force Report | Journal of Genetic Counseling | 2006 | 672 |
| 16 | An oncogenic super-enhancer formed through somatic mutation of a noncoding intergenic element | Science | 2014 | 665 |
| 17 | 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 |
| 18 | Engraftment of gene–modified umbilical cord blood cells in neonates with adenosine deaminase deficiency | Nature Medicine | 1995 | 616 |
| 19 | Mode of proviral activation of a putative mammary oncogene (int-1) on mouse chromosome 15 | Nature | 1984 | 615 |
| 20 | Expression of neurogenin3 reveals an islet cell precursor population in the pancreas | Development (Cambridge) | 2000 | 608 |
| 21 | The Pathophysiology and Genetics of Congenital Lipoid Adrenal Hyperplasia | New England Journal of Medicine | 1996 | 603 |
| 22 | Transfusion related acute lung injury: A pediatric perspective | Pediatric Blood and Cancer | 2005 | 595 |
| 23 | Astrocytes and disease: a neurodevelopmental perspective | Genes and Development | 2012 | 578 |
| 24 | Family-Centered Care: Current Applications and Future Directions in Pediatric Health Care | Maternal and Child Health Journal | 2012 | 577 |
| 25 | Primary afferent tachykinins are required to experience moderate to intense pain | Nature | 1998 | 560 |
| 26 | Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells | Nature Genetics | 1996 | 555 |
| 27 | CNS-Resident Glial Progenitor/Stem Cells Produce Schwann Cells as well as Oligodendrocytes during Repair of CNS Demyelination | Cell Stem Cell | 2010 | 549 |
| 28 | Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification | Journal of Clinical Immunology | 2020 | 525 |
| 29 | Differential effects of oncogenic K-Ras and N-Ras on proliferation, differentiation and tumor progression in the colon | Nature Genetics | 2008 | 514 |
| 30 | Hypoxic-Ischemic Encephalopathy | JAMA Pediatrics | 2015 | 505 |
| 31 | Factors influencing survival after relapse from acute lymphoblastic leukemia: a Children's Oncology Group study | Leukemia | 2008 | 489 |
| 32 | The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies | Journal of Clinical Immunology | 2018 | 488 |
| 33 | Impairment of Mycobacterial But Not Viral Immunity by a Germline Human STAT1 Mutation | Science | 2001 | 486 |
| 34 | Regional Myocardial Blood Flow in Lambs with Concentric Right Ventricular Hypertrophy | Circulation Research | 1974 | 479 |
| 35 | 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 |
| 36 | Circulatory Changes during Growth in the Fetal Lamb | Circulation Research | 1970 | 465 |
| 37 | Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome | Nature Genetics | 2004 | 462 |
| 38 | Risks for Incident Human Papillomavirus Infection and Low-Grade Squamous Intraepithelial Lesion Development in Young Females | JAMA - Journal of the American Medical Association | 2001 | 456 |
| 39 | Functional diversity of astrocytes in neural circuit regulation | Nature Reviews Neuroscience | 2017 | 448 |
| 40 | Regulation of Cell Cycle to Stimulate Adult Cardiomyocyte Proliferation and Cardiac Regeneration | Cell | 2018 | 434 |
| 41 | Primary immunodeficiencies: 2009 update | Journal of Allergy and Clinical Immunology | 2009 | 416 |
| 42 | MicroRNAs as Regulators of Differentiation and Cell Fate Decisions | Cell Stem Cell | 2010 | 408 |
| 43 | Choanal atresia and associated multiple anomalies | Journal of Pediatrics | 1979 | 405 |
| 44 | Radiofrequency catheter ablation as a cure for idiopathic tachycardia of both left and eight ventricular origin | Journal of the American College of Cardiology | 1994 | 398 |
| 45 | Measurement of “True” Glucose Production Rates in Infancy and Childhood with 6,6-Dideuteroglucose | Diabetes | 1977 | 396 |
| 46 | Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee | Journal of Clinical Immunology | 2022 | 389 |
| 47 | Retinoic Acid from the Meninges Regulates Cortical Neuron Generation | Cell | 2009 | 366 |
| 48 | Clinical Neonatal Seizures are Independently Associated with Outcome in Infants at Risk for Hypoxic-Ischemic Brain Injury | Journal of Pediatrics | 2009 | 355 |
| 49 | Concise Review: Mesenchymal Stem Cells for Acute Lung Injury: Role of Paracrine Soluble Factors | Stem Cells | 2011 | 355 |
| 50 | Influence of Physician Confidentiality Assurances on Adolescents' Willingness to Disclose Information and Seek Future Health Care | JAMA - Journal of the American Medical Association | 1997 | 349 |
