Associated Papers
LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.
Bogsrud MP et al.
European Heart Journal, 2025
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Current Status and Clinical Characteristics of Familial Hypercholesterolemia Patients in Korea: A Multicenter, Real-World Experience.
Kim KA et al.
Diagnostics (basel, Switzerland), 2025
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
Structure of apolipoprotein B100 bound to the low-density lipoprotein receptor.
Reimund M et al.
Nature, 2025
Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and increased risk of ischemic heart disease.
Dzhumaniiazova IK et al.
Frontiers in Genetics, 2025
Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Stevens CAT et al.
Journal of the American Heart Association, 2024
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Souter V et al.
Circulation. Genomic and Precision Medicine, 2024
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank.
Gratton J et al.
Bmj Public Health, 2023
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Gratton J et al.
Jacc. Advances, 2023
2022 Consensus statement on the management of familial hypercholesterolemia in Korea.
Lee CJ et al.
The Korean Journal of Internal Medicine, 2022
Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.
Kim H et al.
Journal of Atherosclerosis and Thrombosis, 2022
A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.
Rodríguez Gutiérrez PG et al.
Journal of Clinical Laboratory Analysis, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Compound Heterozygous Familial Hypercholesterolemia Caused by LDLR Variants.
Pamplona-Cunha H et al.
Arquivos Brasileiros De Cardiologia, 2020
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.
Kim HN et al.
Chonnam Medical Journal, 2018
Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea.
Lee SH
Journal of Atherosclerosis and Thrombosis, 2016
Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.
Tada H et al.
Practical Laboratory Medicine, 2015
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.
Han SM et al.
Plos One, 2015
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
Vandrovcova J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
Faiz F et al.
Atherosclerosis, 2013
Genetic analysis of familial hypercholesterolaemia in Western Australia.
Hooper AJ et al.
Atherosclerosis, 2012
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
Kim JH et al.
Molecules and Cells, 2004
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
Weiss N et al.
Journal of Inherited Metabolic Disease, 2000