| # | Title | Journal | Year | Citations |
|---|
|
| 1 | The mutational constraint spectrum quantified from variation in 141,456 humans | Nature | 2020 | 6,794 |
| 2 | Global, regional, and national sepsis incidence and mortality, 1990–2017: analysis for the Global Burden of Disease Study | Lancet, The | 2020 | 3,675 |
| 3 | Systematic Localization of Common Disease-Associated Variation in Regulatory DNA | Science | 2012 | 3,246 |
| 4 | The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 | Nature Genetics | 2001 | 3,008 |
| 5 | Sleep-disordered Breathing and Cardiovascular Disease | American Journal of Respiratory and Critical Care Medicine | 2001 | 2,701 |
| 6 | Strong Association of De Novo Copy Number Mutations with Autism | Science | 2007 | 2,526 |
| 7 | 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 | 2,384 |
| 8 | Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents | Pediatrics | 2017 | 2,360 |
| 9 | Disease-Specific Induced Pluripotent Stem Cells | Cell | 2008 | 2,090 |
| 10 | Exome sequencing identifies the cause of a mendelian disorder | Nature Genetics | 2010 | 1,829 |
| 11 | Targeted capture and massively parallel sequencing of 12 human exomes | Nature | 2009 | 1,826 |
| 12 | The complete sequence of a human genome | Science | 2022 | 1,565 |
| 13 | Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes | Science | 2012 | 1,560 |
| 14 | A comparative encyclopedia of DNA elements in the mouse genome | Nature | 2014 | 1,546 |
| 15 | Exome sequencing as a tool for Mendelian disease gene discovery | Nature Reviews Genetics | 2011 | 1,502 |
| 16 | Antibacterial-ResistantPseudomonas aeruginosa: Clinical Impact and Complex Regulation of Chromosomally Encoded Resistance Mechanisms | Clinical Microbiology Reviews | 2009 | 1,496 |
| 17 | Built Environment Correlates of Walking | Medicine and Science in Sports and Exercise | 2008 | 1,492 |
| 18 | CD19+CD24hiCD38hi B Cells Exhibit Regulatory Capacity in Healthy Individuals but Are Functionally Impaired in Systemic Lupus Erythematosus Patients | Immunity | 2010 | 1,410 |
| 19 | The Simons Genome Diversity Project: 300 genomes from 142 diverse populations | Nature | 2016 | 1,281 |
| 20 | Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Nature Genetics | 2010 | 1,263 |
| 21 | Histopathology and prognosis of Wilms tumorResults from the first national wilms' tumor study | Cancer | 1978 | 1,249 |
| 22 | Intermittent Administration of Inhaled Tobramycin in Patients with Cystic Fibrosis | New England Journal of Medicine | 1999 | 1,232 |
| 23 | Prevalence of Type 1 and Type 2 Diabetes Among Children and Adolescents From 2001 to 2009 | JAMA - Journal of the American Medical Association | 2014 | 1,189 |
| 24 | Transcriptional landscape of the prenatal human brain | Nature | 2014 | 1,188 |
| 25 | Clinical, Cellular, and Molecular Factors That Contribute to Antifungal Drug Resistance | Clinical Microbiology Reviews | 1998 | 1,184 |
| 26 | Comprehensive single-cell transcriptional profiling of a multicellular organism | Science | 2017 | 1,163 |
| 27 | A Critical Role for Dnmt1 and DNA Methylation in T Cell Development, Function, and Survival | Immunity | 2001 | 1,149 |
| 28 | The transcription factor T-bet controls regulatory T cell homeostasis and function during type 1 inflammation | Nature Immunology | 2009 | 1,141 |
| 29 | Comparison of Noninvasive Markers of Fibrosis in Patients With Nonalcoholic Fatty Liver Disease | Clinical Gastroenterology and Hepatology | 2009 | 1,140 |
| 30 | Aminoglycoside antibiotics induce bacterial biofilm formation | Nature | 2005 | 1,128 |
| 31 | Guidelines for Family-Centered Care in the Neonatal, Pediatric, and Adult ICU | Critical Care Medicine | 2017 | 1,042 |
| 32 | Isolation of a novel gene mutated in Wiskott-Aldrich syndrome | Cell | 1994 | 942 |
| 33 | Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer | Thyroid | 2015 | 933 |
| 34 | Children With Medical Complexity: An Emerging Population for Clinical and Research Initiatives | Pediatrics | 2011 | 922 |
| 35 | Pseudomonas aeruginosa and other predictors of mortality and morbidity in young children with cystic fibrosis | Pediatric Pulmonology | 2002 | 921 |
| 36 | Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee | Journal of Clinical Immunology | 2020 | 917 |
| 37 | Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants | Nature | 2013 | 908 |
| 38 | Intent-to-treat leukemia remission by CD19 CAR T cells of defined formulation and dose in children and young adults | Blood | 2017 | 903 |
| 39 | Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial | Lancet, The | 2019 | 885 |
| 40 | LTRPC7 is a Mg·ATP-regulated divalent cation channel required for cell viability | Nature | 2001 | 869 |
| 41 | Heterosexual HIV-1 transmission after initiation of antiretroviral therapy: a prospective cohort analysis | Lancet, The | 2010 | 849 |
| 42 | Efficacy and Safety of Gemtuzumab Ozogamicin in Patients With CD33-Positive Acute Myeloid Leukemia in First Relapse | Journal of Clinical Oncology | 2001 | 847 |
| 43 | ADP-ribose gating of the calcium-permeable LTRPC2 channel revealed by Nudix motif homology | Nature | 2001 | 828 |
| 44 | Nature Contact and Human Health: A Research Agenda | Environmental Health Perspectives | 2017 | 782 |
| 45 | Global burden of diseases, injuries, and risk factors for young people's health during 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013 | Lancet, The | 2016 | 752 |
| 46 | The use of brief interventions adapted from motivational interviewing across behavioral domains: a systematic review | Addiction | 2001 | 751 |
| 47 | International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity | Journal of Clinical Immunology | 2018 | 751 |
| 48 | Passage through mitosis is required for oncoretroviruses but not for the human immunodeficiency virus | Journal of Virology | 1994 | 742 |
| 49 | Nephrotic syndrome in childhood | Lancet, The | 2003 | 734 |
| 50 | DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4) | American Journal of Human Genetics | 2004 | 730 |
