| # | Title | Journal | Year | Citations |
|---|
| 1 | Neonatal Outcomes of Extremely Preterm Infants From the NICHD Neonatal Research Network | Pediatrics | 2010 | 2,252 |
| 2 | Exome sequencing identifies the cause of a mendelian disorder | Nature Genetics | 2010 | 1,813 |
| 3 | Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions | Cell | 2015 | 1,725 |
| 4 | Identification of children at very low risk of clinically-important brain injuries after head trauma: a prospective cohort study | Lancet, The | 2009 | 1,327 |
| 5 | Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways | Nature Genetics | 2009 | 1,229 |
| 6 | The neurofibromatosis type 1 gene encodes a protein related to GAP | Cell | 1990 | 1,108 |
| 7 | Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus | Cell | 1990 | 1,052 |
| 8 | Children With Medical Complexity: An Emerging Population for Clinical and Research Initiatives | Pediatrics | 2011 | 884 |
| 9 | Mutations in the hminK gene cause long QT syndrome and suppress lKs function | Nature Genetics | 1997 | 766 |
| 10 | Platelet gene expression and function in patients with COVID-19 | Blood | 2020 | 741 |
| 11 | The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia | Nature Genetics | 2017 | 693 |
| 12 | Crowding induces live cell extrusion to maintain homeostatic cell numbers in epithelia | Nature | 2012 | 675 |
| 13 | Children With Complex Chronic Conditions in Inpatient Hospital Settings in the United States | Pediatrics | 2010 | 613 |
| 14 | A Single Course of Anti-CD3 Monoclonal Antibody hOKT3 1(Ala-Ala) Results in Improvement in C-Peptide Responses and Clinical Parameters for at Least 2 Years after Onset of Type 1 Diabetes | Diabetes | 2005 | 597 |
| 15 | Escaping the Nuclear Confines: Signal-Dependent Pre-mRNA Splicing in Anucleate Platelets | Cell | 2005 | 588 |
| 16 | Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities | Nature | 2012 | 560 |
| 17 | Carnitine transport and fatty acid oxidation | Biochimica Et Biophysica Acta - Molecular Cell Research | 2016 | 556 |
| 18 | Fragment Length of Circulating Tumor DNA | PLoS Genetics | 2016 | 502 |
| 19 | Antibiotic Prescribing in Ambulatory Pediatrics in the United States | Pediatrics | 2011 | 500 |
| 20 | Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era | Frontiers in Genetics | 2015 | 489 |
| 21 | Prediction of complicated disease course for children newly diagnosed with Crohn's disease: a multicentre inception cohort study | Lancet, The | 2017 | 482 |
| 22 | Carvedilol for Children and Adolescents With Heart Failure | JAMA - Journal of the American Medical Association | 2007 | 465 |
| 23 | Common variants at five new loci associated with early-onset inflammatory bowel disease | Nature Genetics | 2009 | 459 |
| 24 | Control of Mammalian Circadian Rhythm by CKIε-Regulated Proteasome-Mediated PER2 Degradation | Molecular and Cellular Biology | 2005 | 440 |
| 25 | Disorders of carnitine transport and the carnitine cycle | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2006 | 415 |
| 26 | Regulation of -Catenin Signaling by the B56 Subunit of Protein Phosphatase 2A | Science | 1999 | 407 |
| 27 | Natural history of denervation in SMA: Relation to age,SMN2 copy number, and function | Annals of Neurology | 2005 | 406 |
| 28 | Extracorporeal membrane oxygenation in adults with severe respiratory failure: a multi-center database | Intensive Care Medicine | 2009 | 398 |
| 29 | The health of caregivers for children with disabilities: caregiver perspectives | Child: Care, Health and Development | 2007 | 360 |
| 30 | Genetic Evidence on the Origins of Indian Caste Populations | Genome Research | 2001 | 359 |
| 31 | An Epidemiological Investigation of a Sustained High Rate of Pediatric Parapneumonic Empyema: Risk Factors and Microbiological Associations | Clinical Infectious Diseases | 2002 | 353 |
| 32 | Effects of dairy products on bone and body composition in pubertal girls | Journal of Pediatrics | 1995 | 350 |
| 33 | De novo mutations in ATP1A3 cause alternating hemiplegia of childhood | Nature Genetics | 2012 | 345 |
| 34 | Setting Clock Speed in Mammals: The CK1ɛ tau Mutation in Mice Accelerates Circadian Pacemakers by Selectively Destabilizing PERIOD Proteins | Neuron | 2008 | 342 |
| 35 | The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies | Proceedings of the National Academy of Sciences of the United States of America | 2009 | 342 |
| 36 | Person-to-person transmission of Pseudomonas cepacia between patients with cystic fibrosis | Lancet, The | 1990 | 339 |
| 37 | Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis | Nature Genetics | 2013 | 337 |
| 38 | VI. Indications for Intracranial Pressure Monitoring | Journal of Neurotrauma | 2007 | 336 |
| 39 | Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease | Nature Genetics | 2008 | 310 |
| 40 | Longitudinal changes in cortical thickness in autism and typical development | Brain | 2014 | 308 |
| 41 | VIII. Intracranial Pressure Thresholds | Journal of Neurotrauma | 2007 | 301 |
| 42 | Growth and Health in Children With Moderate-to-Severe Cerebral Palsy | Pediatrics | 2006 | 297 |
| 43 | IX. Cerebral Perfusion Thresholds | Journal of Neurotrauma | 2007 | 292 |
| 44 | Prognostic significance of minimal residual disease in high risk B-ALL: a report from Children’s Oncology Group study AALL0232 | Blood | 2015 | 287 |
| 45 | Functional Status Scale: New Pediatric Outcome Measure | Pediatrics | 2009 | 286 |
| 46 | Viral Infections of the Lower Respiratory Tract: Old Viruses, New Viruses, and the Role of Diagnosis | Clinical Infectious Diseases | 2011 | 284 |
| 47 | Structure and function of the developing zebrafish heart | The Anatomical Record | 2000 | 280 |
| 48 | Feeding Dysfunction is Associated with Poor Growth and Health Status in Children with Cerebral Palsy | Journal of the American Dietetic Association | 2002 | 280 |
| 49 | 2018 Infectious Diseases Society of America Clinical Practice Guideline for the Management of Outpatient Parenteral Antimicrobial Therapya | Clinical Infectious Diseases | 2019 | 276 |
| 50 | Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1—a consensus overview | Human Pathology | 2017 | 275 |
