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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 25, 2024
. (Total: 63675 Documents since 2012)
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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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A focused update to the 2019 NLA scientific statement on use of lipoprotein(a) in clinical practice.
Marlys L Koschinsky et al. J Clin Lipidol 2024
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Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review
J Chiang et al, NPJ Genomic Medicine, April 5, 2024
Lipoprotein(a): An important piece of the ASCVD risk factor puzzle across diverse populations.
Nicole Ciffone et al. Am Heart J Plus 2024 38100350
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Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre.
D Gareth Evans et al. Fam Cancer 2024
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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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Association of Clinical Characteristics With Familial Hypercholesterolaemia Variants in a Lipid Clinic Setting: A Case-Control Study.
Bobby V Li et al. J Lipid Atheroscler 2024 13(1) 29-40
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Genetic testing for familial hypercholesterolemia.
Yiyi Zhang et al. Curr Opin Lipidol 2024
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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Megan J Puckelwartz et al. Genome Med 2024 16(1) 13
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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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Cost-Effectiveness of Screening Strategies for Familial Hypercholesterolaemia: An Updated Systematic Review.
Clara Marquina et al. Pharmacoeconomics 2024
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Managing genetic information sharing at family and population level
A McNeill, EJHG, January 4, 2023
Cascade testing of children and adolescents for elevated Lp(a) in pedigrees with familial Hypercholesterolaemia.
Wann Jia Loh et al. J Clin Lipidol 2023
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A systematic review of cost-effectiveness analysis of different screening strategies for familial hypercholesterolemia.
Rui Meng et al. J Clin Lipidol 2023
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Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent Population.
Megan A Dickson et al. CJC Pediatr Congenit Heart Dis 2023 2(5) 211-218
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[Genetic counselling and testing in pulmonary arterial hypertension - A consensus statement on behalf of the International Consortium for Genetic Studies in PAH - French version].
D Montani et al. Rev Mal Respir 2023
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Concordance of a High Lipoprotein(a) Concentration Among Relatives.
Laurens F Reeskamp et al. JAMA Cardiol 2023
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Does a proactive procedure lead to a higher uptake of predictive testing in families with a pathogenic BRCA1/BRCA2 variant? A family cancer clinic evaluation.
Fred H Menko et al. J Genet Couns 2023
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Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study.
Amanda Guerin et al. CMAJ Open 2023 11(4) E754-E764
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Is Lipoprotein(a) Clinically Actionable with Today's Evidence? The Answer is Yes.
Gary S Ma et al. Curr Cardiol Rep 2023
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Inherited Lipid Disorders in Children: Experience from a Tertiary Care Centre.
Simran Syal et al. Indian J Endocrinol Metab 2023 27(3) 230-236
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A Practical Guide to Genetic Testing in Inherited Heart Disease.
Emily E Brown et al. Card Electrophysiol Clin 2023 15(3) 241-247
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The German CaRe high registry for familial hypercholesterolemia - Sex differences, treatment strategies, and target value attainment.
Winfried März et al. Atheroscler Plus 2023 536-15
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Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives
A Rosen et al, EJHG, July 20, 2023
Lipoprotein(a): a Case for Universal Screening in Youth.
Aparna Alankar et al. Curr Atheroscler Rep 2023
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The cascade screening in heritable forms of pulmonary arterial hypertension.
Nidhy P Varghese et al. Pulm Circ 2023 13(3) e12259
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Mapping of familial hypercholesterolemia and dyslipidemias basic management infrastructure in Pakistan: a cross-sectional study.
Fouzia Sadiq et al. Lancet Reg Health Southeast Asia 2023 12100163
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Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public
JM Tiller et al, EJHG June 6, 2023
A comparison of the Netherlands, Norway and UK familial hypercholesterolemia screening programmes with implications for target setting and the UK's NHS long term plan.
Christopher Page et al. PLOS Glob Public Health 2023 3(4) e0001795
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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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