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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Heart, Lung, Blood and Sleep Disorders
Last data update: Apr 19, 2024
. (Total: 63627 Documents since 2012)
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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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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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RCMNet: A deep learning model assists CAR-T therapy for leukemia.
Zhang Ruitao et al. Computers in biology and medicine 2022 150106084
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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 Decade of Progress in Gene Targeted Therapeutic Strategies in Duchenne Muscular Dystrophy: A Systematic Review.
Chung Liang Lam et al. Frontiers in bioengineering and biotechnology 2022 10833833
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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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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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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up and management.
Altassan Ruqaiah et al. Journal of inherited metabolic disease 2020 Jul
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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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CLINGEN Actionability Report for Tuberous Sclerosis Complex (TSC)-TSC1, TSC2
ClinGen Actionability Working Group
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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BRAF mutation: Current and future clinical pathological applications in colorectal carcinoma.
Ng Jessica et al. Histology and histopathology 2018 Dec 18079
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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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Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease.
Prosser Lisa A et al. MDM policy & practice 3(1)
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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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A decade in psychiatric GWAS research.
Horwitz Tanya et al. Molecular psychiatry 2018 Jun
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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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The Success of State Newborn Screening Policies for Critical Congenital Heart Disease
Kemper Alex R et al. JAMA 2017 Dec 318(21) 2087-2088
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Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu Xiangfeng, et al. Nature genetics 2017 12 0. (12) 1722-1730
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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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Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration.
et al. Atherosclerosis. Supplements 2016 Dec
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A Prospective Study of Sudden Cardiac Death among Children and Young Adults.
Bagnall Richard D, et al. The New England journal of medicine 2016 6 0. (25) 2441-52
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 19, 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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