| # | Title | Journal | Year | Citations |
|---|
| 1 | Exome sequencing identifies the cause of a mendelian disorder | Nature Genetics | 2010 | 1,813 |
| 2 | Meditation Programs for Psychological Stress and Well-being | JAMA Internal Medicine | 2014 | 1,622 |
| 3 | An endogenous tumour-promoting ligand of the human aryl hydrocarbon receptor | Nature | 2011 | 1,514 |
| 4 | Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters | | 2000 | 1,412 |
| 5 | Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program | Nature | 2021 | 1,069 |
| 6 | A TEST FOR CONCENTRATION OF ELECTROLYTES IN SWEAT IN CYSTIC FIBROSIS OF THE PANCREAS UTILIZING PILOCARPINE BY IONTOPHORESIS | Pediatrics | 1959 | 1,060 |
| 7 | The CpG dinucleotide and human genetic disease | Human Genetics | 1988 | 932 |
| 8 | Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man | Nature | 1988 | 840 |
| 9 | The Impact of Racism on Child and Adolescent Health | Pediatrics | 2019 | 664 |
| 10 | A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis | Cell | 1993 | 658 |
| 11 | Cystic Fibrosis Pulmonary Guidelines | American Journal of Respiratory and Critical Care Medicine | 2013 | 554 |
| 12 | The natural history of peanut allergy | Journal of Allergy and Clinical Immunology | 2001 | 537 |
| 13 | Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA | Nature | 1987 | 518 |
| 14 | Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome | Nature Genetics | 2004 | 462 |
| 15 | Isolation of an active human transposable element | Science | 1991 | 441 |
| 16 | Loeys–Dietz syndrome: a primer for diagnosis and management | Genetics in Medicine | 2014 | 435 |
| 17 | Lack of antibody affinity maturation due to poor Toll-like receptor stimulation leads to enhanced respiratory syncytial virus disease | Nature Medicine | 2009 | 430 |
| 18 | Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata | Nature Genetics | 1997 | 415 |
| 19 | Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group | Epilepsia Open | 2018 | 412 |
| 20 | Pediatric diffusion tensor imaging: Normal database and observation of the white matter maturation in early childhood | NeuroImage | 2006 | 383 |
| 21 | Inhibition of antigen-induced lymphocyte proliferation by Tat protein from HIV-1 | Science | 1989 | 354 |
| 22 | Repeated Adeno-Associated Virus Serotype 2 Aerosol-Mediated Cystic Fibrosis Transmembrane Regulator Gene Transfer to the Lungs of Patients With Cystic Fibrosis | Chest | 2004 | 351 |
| 23 | White and gray matter development in human fetal, newborn and pediatric brains | NeuroImage | 2006 | 346 |
| 24 | Relationship of indoor allergen exposure to skin test sensitivity in inner-city children with asthma☆☆☆★★★♢ | Journal of Allergy and Clinical Immunology | 1998 | 318 |
| 25 | Comparative study of four immortalized human brain capillary endothelial cell lines, hCMEC/D3, hBMEC, TY10, and BB19, and optimization of culture conditions, for an in vitro blood–brain barrier model for drug permeability studies | Fluids and Barriers of the CNS | 2013 | 311 |
| 26 | Early-life gut microbiome composition and milk allergy resolution | Journal of Allergy and Clinical Immunology | 2016 | 307 |
| 27 | Spontaneous Release of Histamine from Basophils and Histamine-Releasing Factor in Patients with Atopic Dermatitis and Food Hypersensitivity | New England Journal of Medicine | 1989 | 278 |
| 28 | Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA | Journal of Experimental Medicine | 2008 | 275 |
| 29 | Public Expectations for Return of Results from Large-Cohort Genetic Research | American Journal of Bioethics | 2008 | 248 |
| 30 | The Development and Validation of a Neuropathy- and Foot Ulcer-Specific Quality of Life Instrument | Diabetes Care | 2003 | 246 |
| 31 | Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease | Nature Genetics | 2014 | 243 |
| 32 | Repeated Aerosolized AAV-CFTR for Treatment of Cystic Fibrosis: A Randomized Placebo-Controlled Phase 2B Trial | Human Gene Therapy | 2007 | 239 |
| 33 | Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome | Nature Genetics | 1992 | 238 |
| 34 | RECOVERY FROM INFANTS WITH RESPIRATORY ILLNESS OF A VIRUS RELATED TO CHIMPANZEE CORYZA AGENT (CCA) | American Journal of Epidemiology | 1957 | 237 |
| 35 | Risk of oral food challenges | Journal of Allergy and Clinical Immunology | 2004 | 236 |
| 36 | The Impact of Barriers and Self-Efficacy on Self-Care Behaviors in Type 2 Diabetes | The Diabetes Educator | 2001 | 234 |
| 37 | Three related centromere proteins are absent from the inactive centromere of a stable isodicentric chromosome | Chromosoma | 1985 | 233 |
| 38 | A Clinical Prediction Rule to Identify Febrile Infants 60 Days and Younger at Low Risk for Serious Bacterial Infections | JAMA Pediatrics | 2019 | 233 |
| 39 | Values Parents Apply to Decision-Making Regarding Delivery Room Resuscitation for High-Risk Newborns | Pediatrics | 2008 | 223 |
| 40 | Expression of the kynurenine pathway enzyme tryptophan 2,3-dioxygenase is increased in the frontal cortex of individuals with schizophrenia | Neurobiology of Disease | 2004 | 218 |
| 41 | Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 | Nature Genetics | 1999 | 216 |
| 42 | Upregulation of the initiating step of the kynurenine pathway in postmortem anterior cingulate cortex from individuals with schizophrenia and bipolar disorder | Brain Research | 2006 | 210 |
| 43 | Potent bronchoprotective effect of deep inspiration and its absence in asthma | Journal of Applied Physiology | 2000 | 206 |
| 44 | Safety and Effectiveness of Insulin Pump Therapy in Children and Adolescents With Type 1 Diabetes | Diabetes Care | 2003 | 200 |
| 45 | Inhibition of glutamine synthetase reduces ammonia-induced astrocyte swelling in rat | Neuroscience | 1996 | 197 |
| 46 | Cystic Fibrosis Foundation Pulmonary Guideline. Pharmacologic Approaches to Prevention and Eradication of Initial Pseudomonas aeruginosa Infection | Annals of the American Thoracic Society | 2014 | 197 |
| 47 | Medication errors in paediatric care: a systematic review of epidemiology and an evaluation of evidence supporting reduction strategy recommendations | Quality and Safety in Health Care | 2007 | 193 |
| 48 | Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function ofsonic hedgehog? | | 1996 | 192 |
| 49 | Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. | Proceedings of the National Academy of Sciences of the United States of America | 1988 | 191 |
| 50 | The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990 | Seminars in Hematology | 1990 | 187 |
