ArticleJournal of lipid research2017
Use of next-generation sequencing to detect
Article in Journal of lipid research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
- Genetic Testing for Familial Hypercholesterolemia: Health Technology Assessment.Ontario health technology assessment series · 2022Pooled it
- Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.BMC medical genomics · 2020Trial
- Article
- Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies.European journal of human genetics : EJHG · 2026Article
- Assessment of N/L ratio and subclinical atherosclerosis in FH subjects with or without LDLR mutation.Journal of the Endocrine Society · 2026Article
- Development and Validation of a Multigene Panel for Pharmacogenomics Testing Using Next-Generation Sequencing for Routine Clinical Practice.Clinical and translational science · 2026Article
- Article
- Sex and racial differences in prevalence and clinical characteristics of people living with LDLR and PCSK9 familial hypercholesterolemia genetic variants: Data from the All of Us Research program.American journal of preventive cardiology · 2025Article
- Evaluation of glycemic status and subclinical atherosclerosis in familial hypercholesterolemia subjects with or without LDL receptor mutation.Cardiovascular diabetology · 2025Article
- Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.Atherosclerosis plus · 2025Article
- Article
- Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors.Clinical case reports · 2024Article
- Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.Circulation. Genomic and precision medicine · 2023Article
- Article
- Calling and Phasing of Single-Nucleotide and Structural Variants of theInternational journal of molecular sciences · 2023Article
- Genetic and molecular architecture of familial hypercholesterolemia.Journal of internal medicine · 2023Review
- Targeted copy number variant identification across the neurodegenerative disease spectrum.Molecular genetics & genomic medicine · 2022Article
- Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.Journal of atherosclerosis and thrombosis · 2022Article
- Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Clinically Observed Longitudinal Cholesterol Exposure.Circulation. Genomic and precision medicine · 2022Article
- Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia.Internal medicine (Tokyo, Japan) · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Familial hypercholesterolemia (FH) is a heritable condition of severely elevated LDL cholesterol, caused predominantly by autosomal codominant mutations in the LDL receptor gene (
Indexed as
Identifiers
What 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.