| # | Title | Journal | Year | Citations |
|---|
| 1 | Reproducible, interactive, scalable and extensible microbiome data science using QIIME 2 | Nature Biotechnology | 2019 | 11,167 |
| 2 | ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data | Nucleic Acids Research | 2010 | 10,960 |
| 3 | Human gut microbiome viewed across age and geography | Nature | 2012 | 6,247 |
| 4 | Linking Long-Term Dietary Patterns with Gut Microbial Enterotypes | Science | 2011 | 5,253 |
| 5 | Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria | Lancet Neurology, The | 2018 | 4,605 |
| 6 | Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease | Nature | 2012 | 4,038 |
| 7 | Rules for Scoring Respiratory Events in Sleep: Update of the 2007 AASM Manual for the Scoring of Sleep and Associated Events | Journal of Clinical Sleep Medicine | 2012 | 3,887 |
| 8 | Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease | Nature Genetics | 2013 | 3,741 |
| 9 | Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies | Science Translational Medicine | 2014 | 3,665 |
| 10 | A Perivascular Origin for Mesenchymal Stem Cells in Multiple Human Organs | Cell Stem Cell | 2008 | 3,556 |
| 11 | The Treatment-Naive Microbiome in New-Onset Crohn’s Disease | Cell Host and Microbe | 2014 | 2,582 |
| 12 | Polarization of Tumor-Associated Neutrophil Phenotype by TGF-β: “N1” versus “N2” TAN | Cancer Cell | 2009 | 2,522 |
| 13 | Treatment and prognostic factors for long-term outcome in patients with anti-NMDA receptor encephalitis: an observational cohort study | Lancet Neurology, The | 2013 | 2,382 |
| 14 | Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies | American Journal of Human Genetics | 2010 | 2,325 |
| 15 | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci | Nature Genetics | 2010 | 2,284 |
| 16 | Prediction of central nervous system embryonal tumour outcome based on gene expression | Nature | 2002 | 2,154 |
| 17 | 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 |
| 18 | Isolation of a human gene that inhibits HIV-1 infection and is suppressed by the viral Vif protein | Nature | 2002 | 2,093 |
| 19 | Revisions of the international criteria for neuroblastoma diagnosis, staging, and response to treatment. | Journal of Clinical Oncology | 1993 | 1,997 |
| 20 | Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing | Nature Genetics | 2019 | 1,962 |
| 21 | Neuroblastoma: biological insights into a clinical enigma | Nature Reviews Cancer | 2003 | 1,871 |
| 22 | Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response | Nature Medicine | 2006 | 1,865 |
| 23 | Eosinophilic esophagitis: Updated consensus recommendations for children and adults | Journal of Allergy and Clinical Immunology | 2011 | 1,839 |
| 24 | Mitochondria and cancer | Nature Reviews Cancer | 2012 | 1,829 |
| 25 | Functional impact of global rare copy number variation in autism spectrum disorders | Nature | 2010 | 1,803 |
| 26 | A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele | New England Journal of Medicine | 2011 | 1,789 |
| 27 | Clinical Practice Guidelines for Clostridium difficile Infection in Adults and Children: 2017 Update by the Infectious Diseases Society of America (IDSA) and Society for Healthcare Epidemiology of America (SHEA) | Clinical Infectious Diseases | 2018 | 1,695 |
| 28 | Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease | Nature Genetics | 2011 | 1,676 |
| 29 | 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 |
| 30 | Structural Variation of Chromosomes in Autism Spectrum Disorder | American Journal of Human Genetics | 2008 | 1,641 |
| 31 | The American Society of Hematology 2011 evidence-based practice guideline for immune thrombocytopenia | Blood | 2011 | 1,608 |
| 32 | Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management | Lancet Neurology, The | 2010 | 1,605 |
| 33 | Cardiac Arrest and Cardiopulmonary Resuscitation Outcome Reports | Circulation | 2004 | 1,563 |
| 34 | Eosinophilic Esophagitis in Children and Adults: A Systematic Review and Consensus Recommendations for Diagnosis and Treatment | Gastroenterology | 2007 | 1,547 |
| 35 | An improved framework for confound regression and filtering for control of motion artifact in the preprocessing of resting-state functional connectivity data | NeuroImage | 2013 | 1,540 |
| 36 | Immunofluorescence in Cells Derived from Burkitt's Lymphoma | Journal of Bacteriology | 1966 | 1,488 |
| 37 | The social motivation theory of autism | Trends in Cognitive Sciences | 2012 | 1,474 |
| 38 | A comparative encyclopedia of DNA elements in the mouse genome | Nature | 2014 | 1,444 |
| 39 | Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 | Autophagy | 2021 | 1,430 |
| 40 | Chimeric antigen receptor T cells persist and induce sustained remissions in relapsed refractory chronic lymphocytic leukemia | Science Translational Medicine | 2015 | 1,402 |
| 41 | Guidelines for the Treatment of Hypothyroidism: Prepared by the American Thyroid Association Task Force on Thyroid Hormone Replacement | Thyroid | 2014 | 1,283 |
| 42 | Autism genome-wide copy number variation reveals ubiquitin and neuronal genes | Nature | 2009 | 1,270 |
| 43 | Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer | Journal of Molecular Diagnostics | 2017 | 1,267 |
| 44 | Epstein–Barr Virus in Burkitt's Lymphoma and Nasopharyngeal Carcinoma: EBV DNA in Biopsies of Burkitt Tumours and Anaplastic Carcinomas of the Nasopharynx | Nature | 1970 | 1,260 |
| 45 | Prevalence of Inappropriate Antibiotic Prescriptions Among US Ambulatory Care Visits, 2010-2011 | JAMA - Journal of the American Medical Association | 2016 | 1,250 |
| 46 | Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial | Lancet, The | 2017 | 1,250 |
| 47 | The Management of Community-Acquired Pneumonia in Infants and Children Older Than 3 Months of Age: Clinical Practice Guidelines by the Pediatric Infectious Diseases Society and the Infectious Diseases Society of America | Clinical Infectious Diseases | 2011 | 1,230 |
| 48 | Postnatal isl1+ cardioblasts enter fully differentiated cardiomyocyte lineages | Nature | 2005 | 1,229 |
| 49 | Antithrombotic Therapy in Neonates and Children | Chest | 2012 | 1,229 |
| 50 | Identification of ALK as a major familial neuroblastoma predisposition gene | Nature | 2008 | 1,207 |
