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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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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)
Last data update: May 02, 2024
. (Total: 63767 Documents since 2012)
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Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.
Jane Murphy et al. Ir J Med Sci 2024
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Genetic Testing in Hypertrophic Cardiomyopathy.
Catherine G Ireland et al. Am J Cardiol 2024 212SS4-S13
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Concealed Inherited Cardiomyopathies Detected in Cardio-Oncology Screening.
Rebeca Lorca et al. J Clin Med 2024 13(1)
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Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Emanuele Monda et al. Circ Genom Precis Med 2023 e004252
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Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases.
Mauro Longoni et al. Front Cardiovasc Med 2023 101272433
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Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives.
Søren K Nielsen et al. J Am Coll Cardiol 2023 82(18) 1751-1761
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Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review.
Linda Koshy et al. Indian J Med Res 2023 158(2) 119-135
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How and Why to Organize Family-Based Screening Clinics for Hypertrophic Cardiomyopathy.
Bryana J Rivers et al. Can J Cardiol 2023
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Return-to-Play for Elite Athletes With Genetic Heart Diseases Predisposing to Sudden Cardiac Death.
Katherine A Martinez et al. J Am Coll Cardiol 2023 82(8) 661-670
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Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study.
Mark Jansen et al. JACC Heart Fail 2023
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Age and Sex Differences in the Genetics of Cardiomyopathy.
Oyediran Akinrinade et al. J Cardiovasc Transl Res 2023
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[Association between clinical phenotypes of hypertrophic cardiomyopathy and Ca gene variation gene variation].
J Zhao et al. Zhonghua Xin Xue Guan Bing Za Zhi 2023 51(5) 497-503
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A systematic literature review of economic evaluations and cost-of-illness studies of inherited cardiomyopathies.
Isabell Wiethoff et al. Neth Heart J 2023
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Clinical and Genetic Screening for Hypertrophic Cardiomyopathy in Paediatric Relatives: Changing Paradigms in Clinical Practice.
Claire M Lawley et al. J Clin Med 2023 12(8)
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Spotlight on the 2022 ESC guideline management of ventricular arrhythmias and prevention of sudden cardiac death: 10 novel key aspects.
Hilke Könemann et al. Europace 2023
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Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
Lisa Sniderman King et al. Mol Genet Metab 139(1) 107565
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Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions.
Francesca Girolami et al. J Clin Med 2023 12(7)
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A Novel Loss-of-function Mutation in MYBPC3 Causes Familial Hypertrophic Cardiomyopathy with Extreme Intrafamilial Phenotypic Heterogeneity.
Y Peng et al. Balkan journal of medical genetics : BJMG 2023 25(1) 71-78
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Detection of subclinical hypertrophic cardiomyopathy.
George Joy et al. Nature reviews. Cardiology 2023
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Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy.
Nathalie Gaudreault et al. American journal of medical genetics. Part A 2023
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Global research trends of hypertrophic cardiomyopathy from 2000 to 2022: Insights from bibliometric analysis.
Xifeng Zheng et al. Frontiers in cardiovascular medicine 2023 101039098
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CRISPR gene-editing therapies for hypertrophic cardiomyopathy.
Alanna Strong et al. Nature medicine 2023
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Return of Participants' Incidental Genetic Research Findings: Experience from a Case-Control Study of Asthma in an American Indian Community.
Lyle G Best et al. Research square 2023
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Benefits, Harms and Costs of Newborn Genetic Screening for Hypertrophic Cardiomyopathy: Estimates from the PreEMPT Model.
Kurt D Christensen et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100797
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Benefits, Harms and Costs of Newborn Genetic Screening for Hypertrophic Cardiomyopathy: Estimates from the PreEMPT Model
KD Chrisiensen et al, Genetics in Medicine, January 31, 2023
Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease.
Melas Marilena et al. Journal of clinical medicine 2023 12(1)
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Genetic characterization of juvenile sudden cardiac arrest and death in Tuscany: The ToRSADE registry.
Girolami Francesca et al. Frontiers in cardiovascular medicine 2023 91080608
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Topic: Hypertrophic Cardiomyopathy: Current Treatment and Future Options.
Sebastian Sneha Annie et al. Current problems in cardiology 2022 101552
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Genetic causes of heart failure with preserved ejection fraction: emerging pharmacological treatments.
Olivotto Iacopo et al. European heart journal 2022
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Hypertrophic Cardiomyopathy (HCM) and Family Health History of Sudden Death
CDC, December 2022
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 02, 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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