Associated Papers
Risk for coronary artery disease among individuals with normal low-density lipoprotein cholesterol (LDL-C) levels.
Shi Z et al.
International Journal of Cardiology. Cardiovascular Risk and Prevention, 2026
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia.
Yazıcı H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
Genetic and molecular architecture of familial hypercholesterolemia.
Abifadel M et al.
Journal of Internal Medicine, 2023
Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.
Razman AZ et al.
International Journal of Molecular Sciences, 2022
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Gandhi GD et al.
Journal of Translational Medicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects.
Diboun I et al.
Frontiers in Genetics, 2022
Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.
Sarkar SK et al.
Frontiers in Physiology, 2022
Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.
Lali R et al.
Nature Communications, 2021
Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.
Björnsson E et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Lacaze P et al.
Open Heart, 2021
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Guo Q et al.
Frontiers in Genetics, 2020
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
Kamar A et al.
Frontiers in Genetics, 2020
New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.
Elbitar S et al.
Scientific Reports, 2018
Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.
Calandra S et al.
Current Opinion in Lipidology, 2017
The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.
Seidah NG et al.
Pharmacological Reviews, 2017
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
Hopkins PN et al.
Circulation. Cardiovascular Genetics, 2015