Associated Papers
Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with angiographically documented premature coronary artery disease.
Liang KW et al.
Scientific Reports, 2026
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications.
Folta A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.
Wang K et al.
Lipids in Health and Disease, 2024
Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.
Yip MK et al.
Genes, 2023
Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.
Du Z et al.
Iscience, 2022
Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.
Zhang J et al.
Lipids in Health and Disease, 2022
Effects of statins on the inducible degrader of low-density lipoprotein receptor in familial hypercholesterolemia.
Chan ML et al.
Endocrine Connections, 2022
Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
Huang CC et al.
Journal of Atherosclerosis and Thrombosis, 2022
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.
Tomar S et al.
Circulation. Genomic and Precision Medicine, 2022
Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.
Lee WJ et al.
Genes, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Generation of a human iPSC line CIBi009-A from a patient with familial hypercholesterolemia carrying variants of LDLR c.T1241G and APOB c.G1618T.
Ge W et al.
Stem Cell Research, 2021
Genetic Diagnosis of Familial Hypercholesterolemia in Asia.
Huang CC et al.
Frontiers in Genetics, 2020
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.
Chan ML et al.
Molecular Genetics & Genomic Medicine, 2019
Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.
Chen P et al.
Frontiers in Physiology, 2019
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
Pek SLT et al.
Atherosclerosis, 2018
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
Mellor G et al.
Circulation. Cardiovascular Genetics, 2017
Management of Familial Hypercholesterolemia in Hong Kong.
Hu M et al.
Journal of Atherosclerosis and Thrombosis, 2016
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L et al.
Scientific Reports, 2015
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Dušková L et al.
Atherosclerosis, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Genetic diagnosis of familial hypercholesterolemia in Han Chinese.
Chiou KR et al.
Journal of Clinical Lipidology, 0
Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.
Chiou KR et al.
Journal of Clinical Lipidology, 0
The analysis of the breakpoint of large rearrangements of LDLR gene in a Taiwanese cohort of patients with familial hypercholesterolemia.
Huang CC et al.
Journal of Clinical Lipidology, 0