Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia
Published 2023 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia
Authors
Keywords
-
Journal
Circulation-Genomic and Precision Medicine
Volume 16, Issue 2, Pages -
Publisher
Ovid Technologies (Wolters Kluwer Health)
Online
2023-03-24
DOI
10.1161/circgen.122.003887
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
- (2022) Tycho R Tromp et al. LANCET
- Advancements in the Treatment of Homozygous Familial Hypercholesterolemia
- (2022) Archna Bajaj et al. Journal of Atherosclerosis and Thrombosis
- Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
- (2021) Antonio J. Vallejo-Vaz et al. LANCET
- The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
- (2021) Joana R. Chora et al. GENETICS IN MEDICINE
- Major adverse cardiovascular events in homozygous familial hypercholesterolaemia: a systematic review and meta-analysis
- (2021) Adam I Kramer et al. European Journal of Preventive Cardiology
- Quality of whole genome sequencing from blood versus saliva derived DNA in cardiac patients
- (2020) Roderick A. Yao et al. BMC Medical Genomics
- Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia
- (2020) et al. JAMA Cardiology
- Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review
- (2020) Dustin B. Miller et al. Frontiers in Genetics
- Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia
- (2020) Lorenz Rieck et al. CLINICAL GENETICS
- Evinacumab for Homozygous Familial Hypercholesterolemia
- (2020) Frederick J. Raal et al. NEW ENGLAND JOURNAL OF MEDICINE
- Highly accurate long-read HiFi sequencing data for five complex genomes
- (2020) Ting Hon et al. Scientific Data
- Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk
- (2019) Seohyuk Lee et al. European Journal of Preventive Cardiology
- Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia
- (2019) Mark Trinder et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Attainment of Recommended Lipid Targets in Patients With Familial Hypercholesterolemia: Real-World Experience With PCSK9 Inhibitors
- (2018) Omar Razek et al. CANADIAN JOURNAL OF CARDIOLOGY
- Accurate detection of complex structural variations using single-molecule sequencing
- (2018) Fritz J. Sedlazeck et al. NATURE METHODS
- Clinical Genetic Testing for Familial Hypercholesterolemia
- (2018) Amy C. Sturm et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018
- (2018) Liam R. Brunham et al. CANADIAN JOURNAL OF CARDIOLOGY
- Comparison of three variant callers for human whole genome sequencing
- (2018) Anna Supernat et al. Scientific Reports
- Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia
- (2017) Joep C. Defesche et al. Journal of Clinical Lipidology
- Use of next-generation sequencing to detectLDLRgene copy number variation in familial hypercholesterolemia
- (2017) Michael A. Iacocca et al. JOURNAL OF LIPID RESEARCH
- Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained ClinicallyHighlights
- (2016) Jian Wang et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Homozygous Familial Hypercholesterolemia in SpainCLINICAL PERSPECTIVE
- (2016) Rosa M. Sánchez-Hernández et al. Circulation-Cardiovascular Genetics
- Genetic diagnosis of familial hypercholesterolemia in Han Chinese
- (2016) Kuan-Rau Chiou et al. Journal of Clinical Lipidology
- Homozygous Familial Hypercholesterolemia in SpainCLINICAL PERSPECTIVE
- (2016) Rosa M. Sánchez-Hernández et al. Circulation-Cardiovascular Genetics
- Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel
- (2016) Raul D Santos et al. Lancet Diabetes & Endocrinology
- WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing Reads
- (2015) Murray Patterson et al. JOURNAL OF COMPUTATIONAL BIOLOGY
- Targeted next-generation sequencing to diagnose disorders of HDL cholesterol
- (2015) Singh N. Sadananda et al. JOURNAL OF LIPID RESEARCH
- Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome
- (2014) Barbara Sjouke et al. EUROPEAN HEART JOURNAL
- Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society
- (2014) M. Cuchel et al. EUROPEAN HEART JOURNAL
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started