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
Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with angiographically documented premature coronary artery disease.
Liang KW et al.
Scientific Reports, 2026
A nationwide genetic and phenotypic spectrum of 63 probands of homozygous familial hypercholesterolemia in Taiwan.
Lin CF et al.
Journal of Clinical Lipidology, 2026
Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.
Yazıcı H et al.
Journal of Clinical Lipidology, 2025
Germline mutational landscape in a large cohort of Indian breast cancer.
Peter J et al.
Bmc Cancer, 2025
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
[Familial hypercholesterolemia caused by compound heterozygous variants in the LDLR gene: a case report].
Wang KX et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2025
Efficacy and Safety of Inclisiran in Adolescents With Genetically Confirmed Homozygous Familial Hypercholesterolemia: Results From the Double-Blind, Placebo-Controlled Part of the ORION-13 Randomized Trial.
Wiegman A et al.
Circulation, 2025
Family hypercholesterolemia due to LDLR gene in Vietnamese children: characteristics of phenotype and genotype.
Do MTT et al.
Molecular Genetics and Metabolism Reports, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
[Clinical manifestations and genetic analysis of two patients with familial hypercholesterolemia caused by complex heterozygous variants].
Lian X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Structure of apolipoprotein B100 bound to the low-density lipoprotein receptor.
Reimund M et al.
Nature, 2025
Prevalence and Clinical Characteristics of Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome according to the Current Japanese Guidelines: Insight from the EXPLORE-J study.
Takeji Y et al.
Journal of Atherosclerosis and Thrombosis, 2025
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.
Chen HY et al.
Plos One, 2025
Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Huang MN et al.
Lipids in Health and Disease, 2024
Enhancing Familial Hypercholesterolemia Detection in South Korea: A Targeted Screening Approach Integrating National Program and Genetic Cascade Screening.
Yang JH et al.
Korean Circulation Journal, 2024
Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.
Xue H et al.
Scientific Reports, 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
LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.
Wang K et al.
Lipids in Health and Disease, 2024
Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.
Zhang Y et al.
Jama Cardiology, 2024
Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns.
Zhou Y et al.
Clinical Genetics, 2024
Rare and common coding variants in lipid metabolism-related genes and their association with coronary artery disease.
Li W et al.
Bmc Cardiovascular Disorders, 2024
Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial.
Raal F et al.
Circulation, 2024
PCSK9 inhibitor use during pregnancy in a case of familial hypercholesterolemia complicated with coronary artery disease.
Suzuki T et al.
The Journal of Obstetrics and Gynaecology Research, 2024
Exploring LDLR-APOB Interactions in Familial Hypercholesterolemia in the Vietnamese Population: A Protein-Protein Docking Approach.
Kim NT et al.
Bioinformatics and Biology Insights, 2024
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
Identification of LDLR mutation in cerebral venous sinus thrombosis co-existing with dural arteriovenous fistulas: a case report.
Li QH et al.
Bmc Neurology, 2023
Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.
Yip MK et al.
Genes, 2023
Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction.
Lee WJ et al.
Scientific Reports, 2023
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank-Brief Report.
Gratton J et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2023
Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.
Shum BOV et al.
Clinical Chemistry, 2023
In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia.
Lin S et al.
Lipids in Health and Disease, 2023
Diagnostic yield of genetic screening in a diverse, community-ascertained cohort.
Rao ND et al.
Genome Medicine, 2023
Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia: Phase 3, Multinational Open-Label Study.
Bruckert E et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2022
Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.
Du Z et al.
Iscience, 2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.
Kim YJ et al.
Nature Communications, 2022
Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.
Huang Y et al.
Journal of Personalized Medicine, 2022
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.
Rutkowska L et al.
Genes, 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
Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.
Harada-Shiba M et al.
Journal of Atherosclerosis and Thrombosis, 2022
Effects of statins on the inducible degrader of low-density lipoprotein receptor in familial hypercholesterolemia.
Chan ML et al.
Endocrine Connections, 2022