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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Last data update: Jun 20, 2024
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Robust airway microbiome signatures in acute respiratory failure and hospital-acquired pneumonia.
Emmanuel Montassier et al. Nat Med 2023
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Patient and Epidemiological Factors Associated With Influenza Testing in Hospitalized Adults With Acute Respiratory Illnesses, 2016-2017 to 2019-2020.
Alexandra F Dalton et al. Open Forum Infect Dis 10(4) ofad162
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Daniela Matuozzo et al. Genome medicine 2023 15(1) 22
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Increasing serum iron levels and their role in the risk of infectious diseases: a Mendelian randomization approach.
Guillaume Butler-Laporte et al. International journal of epidemiology 2023
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Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs.
Jean-Laurent Casanova et al. The Journal of clinical investigation 2023 133(3)
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Therapeutic potential of IL6R blockade for the treatment of sepsis and sepsis-related death: A mendelian randomisation study.
Fergus W Hamilton et al. PLoS medicine 2023 20(1) e1004174
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An immune dysfunction score for stratification of patients with acute infection based on whole-blood gene expression.
Cano-Gamez Eddie et al. Science translational medicine 2022 14(669) eabq4433
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Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population.
Zecevic Marko et al. Frontiers in genetics 2022 13911010
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Upfront DPYD Genotyping and Toxicity Associated with Fluoropyrimidine-Based Concurrent Chemoradiotherapy for Oropharyngeal Carcinomas: A Work in Progress.
Desilets Antoine et al. Current oncology (Toronto, Ont.) 2022 29(2) 497-509
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Human genetic and immunological determinants of critical COVID-19 pneumonia.
Zhang Qian et al. Nature 2022
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Functional proteomic profiling links deficient DNA clearance to mortality in patients with severe COVID-19 pneumonia
V Papayonopolous et al, MEDRXIV, January 25, 2022
Effect of Probiotics on Incident Ventilator-Associated Pneumonia in Critically Ill Patients- A Randomized Clinical Trial
J Johnstone et al, JAMA Network Open, September 21, 2021
Host genetics of pediatric SARS-CoV-2 COVID-19 and multisystem inflammatory syndrome in children.
Schulert Grant S et al. Current opinion in pediatrics 2021
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Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Italy.
Suppressa Patrizia et al. Orphanet journal of rare diseases 2021 16(1) 378
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The Angiotensin Converting Enzyme Deletion/Deletion Genotype Is a Risk Factor for Severe COVID-19: Implication and Utility for Patients Admitted to Emergency Department.
Annunziata Anna et al. Medicina (Kaunas, Lithuania) 2021 57(8)
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Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
Darras Basil T et al. The New England journal of medicine 2021 385(5) 427-435
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Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome.
Nissan Ella et al. The Journal of pediatrics 2021
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Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study.
Jones Laney K et al. Journal of personalized medicine 2021 11(6)
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Predicting clinical outcomes in the Machine Learning era: The Piacenza score a purely data driven approach for mortality prediction in COVID-19 Pneumonia
G Halasz et al, MEDRXIV, March 20, 2021
Utility of a Clinical Scoring System for Point of Care Triaging in COVID-19 Pneumonia
AJ Gangemi et al, MEDRXIV, March 2, 2021
Discriminant Accuracy of the SOFA Score for Determining the Probable Mortality of Patients With COVID-19 Pneumonia Requiring Mechanical Ventilation.
Raschke Robert A et al. JAMA 2021 Feb
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Six artificial intelligence paradigms for tissue characterisation and classification of non-COVID-19 pneumonia against COVID-19 pneumonia in computed tomography lungs.
Saba Luca et al. International journal of computer assisted radiology and surgery 2021 Feb
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A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.
Al Sukaiti Nashat et al. Frontiers in immunology 2020 11623199
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The microbiota in pneumonia: From protection to predisposition.
Thibeault Charlotte et al. Science translational medicine 2021 Jan 13(576)
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CT radiomics facilitates more accurate diagnosis of COVID-19 pneumonia: compared with CO-RADS.
Liu Huanhuan et al. Journal of translational medicine 2021 19(1) 29
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Host genetic effects in pneumonia.
Chen Hung-Hsin et al. American journal of human genetics 2020 Dec
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Clinical Value of SARS-CoV2 IgM and IgG Antibodies in Diagnosis of COVID-19 in Suspected Cases.
Feng Yangchun et al. Journal of inflammation research 2020 131089-1094
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The Direct and Indirect Impact of SARS-CoV-2 Infections on Neonates: A Series of 26 Cases in Bangladesh.
Saha Senjuti et al. The Pediatric infectious disease journal 2020 Oct
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Periodic Genotype Shifts in Clinically Prevalent Mycoplasma pneumoniae Strains in Japan.
Kenri Tsuyoshi et al. Frontiers in cellular and infection microbiology 2020 10385
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Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
Castaldo Alice et al. Diagnostics (Basel, Switzerland) 2020 Aug 10(8)
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Page last reviewed:
Feb 1, 2024
Page last updated:
Jun 20, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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