ReviewCurrent atherosclerosis reports2018
The Present and the Future of Genetic Testing in Familial Hypercholesterolemia: Opportunities and Caveats.
Review in Current atherosclerosis reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed.
- The impact of genetic testing on physician practice in specialized cardiovascular clinics.Journal of clinical lipidology · 2026Article
- Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?Current atherosclerosis reports · 2023Review
- Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.Frontiers in physiology · 2023Article
- Integrated guidance to enhance the care of children and adolescents with familial hypercholesterolaemia: Practical advice for the community clinician.Journal of paediatrics and child health · 2022Article
- Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective.American journal of preventive cardiology · 2021Article
- Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.Nature reviews. Cardiology · 2020Review
- Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series.Frontiers in genetics · 2020Article
- Genetic Testing and Risk Scores: Impact on Familial Hypercholesterolemia.Frontiers in cardiovascular medicine · 2019Review
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewWe summarize recent advances in the understanding of genetic testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation sequencing panels, and directions for future research. RECENT
findingsThe uptake of massively parallel sequencing in research and diagnostic laboratories has enabled expanded testing for FH and its phenocopies, with the added advantage that copy number variants can be detected. However, increasing the number of genes tested increases the number of variants detected, which may or may not be pathogenic. Guidelines for assessing variant pathogenicity will assist the provision of accurate and consistent interpretations between centers. Expanded FH panels can identify mutations in other relevant genes, such as APOE, LIPA, and ABCG5/8 and enable the identification of polygenic hypercholesterolemia using LDL genetic risk scores. Increased awareness and understanding of genomics by the public, patients, and health professionals is critical for effectively translating into practice new advances in genetic testing for FH.
Indexed as
Identifiers
29779130What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.