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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 23, 2024
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Hypercholesterolemia[original query]>>Original Studies[Product Type]
Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial
Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial.
Christina Johnson et al. Implement Sci 2024 19(1) 30
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The Health History of First-Degree Relatives' Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia.
Tomoharu Tokutomi et al. Genes (Basel) 2024 15(3)
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Physical signs and atherosclerotic cardiovascular disease in familial hypercholesterolemia: the HELLAS-FH Registry.
Loukianos S Rallidis et al. J Cardiovasc Med (Hagerstown) 2024
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Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Vivienne Souter et al. Circ Genom Precis Med 2024 e004457
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Additional findings from the 100,000 Genomes Project: a qualitative study of recipient perspectives.
Joshua J Nolan et al. Genet Med 2024 101103
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Knowledge, attitude, and practice of physicians towards familial hypercholesterolaemia in north regions of Saudi Arabia.
Aseel Awad Alsaidan et al. J Pak Med Assoc 2024 74(2) 327-334
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Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia.
Janneke W C M Mulder et al. JAMA Cardiol 2024
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Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.
Yiyi Zhang et al. JAMA Cardiol 2024
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Measuring Costs of Cardiovascular Disease Prevention for Patients with Familial Hypercholesterolemia in Administrative Claims Data.
Lauren E Passero et al. High Blood Press Cardiovasc Prev 2024
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Familial Hypercholesterolemia in the Elderly: An Analysis of Clinical Profile and Atherosclerotic Cardiovascular Disease Burden from the Hellas-FH Registry.
Christina Antza et al. Biomedicines 2024 12(1)
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Using implementation science to develop a familial hypercholesterolemia screening program in primary care: The CARE-FH study.
Laney K Jones et al. J Clin Lipidol 2024
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Comparison of Two Strategies for Hypercholesterolemia Detection through Point-of-Care Testing.
Héctor Eliud Arriaga-Cázares et al. Diagnostics (Basel) 2024 14(2)
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Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol
Y Zhang et al, JAMA Cardio, January 31, 2023
Assessment of ethnic inequalities in diagnostic coding of familial hypercholesterolaemia (FH): A cross-sectional database study in Lambeth, South London.
Mariam Molokhia et al. Atherosclerosis 2023 388117353
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Prevalent Variants in the LDLR Gene Impair Responsiveness to Rosuvastatin among Family Members of Patients with Premature Myocardial Infarction.
Nguyen Trung Kien et al. J Pers Med 2023 13(12)
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Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.
Li Shan Chen et al. J Hum Genet 2023
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Misperceptions and management of LDL-cholesterol in secondary prevention of patients with familial hypercholesterolemia in cardiology practice: Real-life evidence from the EPHESUS registry.
Meral Kayikcioglu et al. J Clin Lipidol 2023 17(6) 732-742
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Increased FH-Risk-Score and Diabetes Are Cardiovascular Risk Equivalents in Heterozygous Familial Hypercholesterolemia.
Martine Paquette et al. Arterioscler Thromb Vasc Biol 2023
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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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Familial hypercholesterolemia is related to cardiovascular disease, heart failure and atrial fibrillation. Results from a population-based study.
Hayato Tada et al. Eur J Clin Invest 2023 e14119
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Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Jodell E Linder et al. Am J Hum Genet 2023
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High lipoprotein(a) may explain one quarter of clinical familial hypercholesterolemia diagnoses in Danish lipid clinics.
Berit Storgaard Hedegaard et al. J Clin Endocrinol Metab 2023
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Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease.
Nella Junna et al. Atherosclerosis 2023 117327
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Use of a multi-phased approach to identify and address facilitators and barriers to the implementation of a population-wide genomic screening program.
Caitlin G Allen et al. Implement Sci Commun 2023 4(1) 122
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Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France - A nationwide study of health insurance claims data.
Claire Douillard et al. Mol Genet Metab 2023 140(3) 107704
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Reporting LDL cholesterol results by clinical biochemistry laboratories in Czechia and Slovakia to improve the detection rate of familial hypercholesterolemia.
Tomáš Šálek et al. Biochem Med (Zagreb) 2023 33(3) 030705
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Premature morbidity and mortality associated with potentially undiagnosed familial hypercholesterolemia in the general population.
Kausik K Ray et al. Am J Prev Cardiol 2023 15100580
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Long-term safety and effectiveness of alirocumab and evolocumab in familial hypercholesterolemia (FH) in Belgium.
Marc Snel et al. Acta Cardiol 2023 1-8
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Impact of providing genetics-based future cardiovascular risk on LDL-C in patients with familial hypercholesterolemia.
Akihiro Nomura et al. J Clin Lipidol 2023
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 23, 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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