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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
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Last data update: Apr 25, 2024
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Lam[original query]>>Original Studies[Product Type]
Implementation of KIDMATCH: A Clinical Decision Support Tool for Diagnosing Pediatric Patients with Multisystem Inflammatory Syndrome and Kawasaki Disease.
Jonathan Y Lam et al. AMIA Annu Symp Proc 2023 2022653-661
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Cardiovascular Disease Risk Assessment Using Traditional Risk Factors and Polygenic Risk Scores in the Million Veteran Program.
Jason L Vassy et al. JAMA Cardiol 2023
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Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.
Sikha Singh et al. Int J Neonatal Screen 9(2)
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Modelling 30-day hospital readmission after discharge for COPD patients based on electronic health records.
Meng Li et al. NPJ Prim Care Respir Med 2023 33(1) 16
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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje Edgar T et al. Circulation. Genomic and precision medicine 2022 e003672
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Genomics and phenomics of body mass index reveals a complex disease network.
Huang Jie et al. Nature communications 2022 13(1) 7973
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A machine-learning algorithm for diagnosis of multisystem inflammatory syndrome in children and Kawasaki disease in the USA: a retrospective model development and validation study.
Lam Jonathan Y et al. The Lancet. Digital health 2022 4(10) e717-e726
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Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank.
Patrick Matthew T et al. Genome medicine 2022 14(1) 85
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Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects.
Cao Y et al. Prenatal diagnosis 2022
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A polygenic risk score improves risk stratification of coronary artery disease: a large-scale prospective Chinese cohort study.
Lu Xiangfeng et al. European heart journal 2022
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Multicenter Validation of a Machine Learning Algorithm for Diagnosing Pediatric Patients with Multisystem Inflammatory Syndrome and Kawasaki Disease
JY Lam et al, MEDRXIV, February 8,2022
Automated interpretation of systolic and diastolic function on the echocardiogram: a multicohort study.
Tromp Jasper et al. The Lancet. Digital health 2021
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Assessing Lung Cancer Absolute Risk Trajectory based on a Polygenic Risk Model.
Hung Rayjean J et al. Cancer research 2021 Jan
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Blood Pressure and Risk of Cardiovascular Disease in UK Biobank: A Mendelian Randomization Study.
Wan Eric Yuk Fai et al. Hypertension (Dallas, Tex. : 1979) 2021 Jan HYPERTENSIONAHA12016138
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Machine learning can predict disease manifestations and outcomes in lymphangioleiomyomatosis.
Chernbumroong Saisakul et al. The European respiratory journal 2020 Dec
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Early Transmission Dynamics in Wuhan, China, of Novel Coronavirus-Infected Pneumonia.
Li Qun et al. The New England journal of medicine 2020 Mar 382(13) 1199-1207
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Mothers with long QT syndrome are at increased risk for fetal death: Findings from a multicenter international study.
Cuneo Bettina F et al. American journal of obstetrics and gynecology 2019 Sep
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Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.
Sun Yan V et al. Circulation. Genomic and precision medicine 2018 Dec 11(12)
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Pharmacogenetics of Warfarin in a Diverse Patient Population.
Mak May et al. Journal of cardiovascular pharmacology and therapeutics 2019 May 1074248419843530
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Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease.
Asatryan Babken et al. The American journal of cardiology 2019 Mar
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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Sharma Neeraj et al. PLoS genetics 2018 Nov 14(11) e1007723
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Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).
et al. Atherosclerosis 2018 Oct 277234-255
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Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Klarin Derek et al. Nature genetics 2018 Oct
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Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.
Mak C M et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Mar
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Evidence of genetic predisposition for metabolically healthy obesity and metabolically obese normal weight.
Huang Lam Opal et al. Physiological genomics 2017 Dec
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TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
Kingswood John C et al. Orphanet journal of rare diseases 2017 Jan 12(1) 2
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Measuring and Validating a General Cancer Predisposition Perception Scale: An Adaptation of the Revised-IPQ-Genetic Predisposition Scale.
Lam Wendy Wing Tak et al. PloS one 2015 10(11) e0142620
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 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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