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
Primary care providers-initiated screening for familial hypercholesterolemia: a model proposed based on the Kordian primary prevention program for cardiovascular diseases.
Bobrowska B et al.
Polish Archives of Internal Medicine, 2026
Population Admixture and APOB Variant Landscape in Ecuadorian Mestizo Patients with Cardiac Diseases: Potential Implications for Familial Hypercholesterolemia Genetics.
Cadena-Ullauri S et al.
Journal of Cardiovascular Development and Disease, 2026
Novel APOB variant causes familial hypercholesterolemia in multiple unrelated families.
Berthold A et al.
Journal of Clinical Lipidology, 2026
Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.
Small AM et al.
Nature Genetics, 2026
LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.
Bogsrud MP et al.
European Heart Journal, 2025
From physiopathology to treatment of familial hypercholesterolemia: Existing and emerging pharmacotherapies.
Cicero AFG et al.
Pharmacological Reviews, 2025
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.
Mitchell BD et al.
American Journal of Medical Genetics. Part A, 2025
Child-parent cascade screening for familial hypercholesterolemia in Slovenia: Insights from the pilot program.
Šikonja J et al.
Atherosclerosis, 2025
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
Genetics and context for precision health in Greater Boston.
Koyama S et al.
Nature Communications, 2025
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.
Katsanis N et al.
Human Genomics, 2025
Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.
Brashear AM et al.
Scientific Reports, 2025
Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.
Erdoğan KM et al.
Annals of Human Genetics, 2025
Lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants.
Kolovou G et al.
Orphanet Journal of Rare Diseases, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.
Selvaraj MS et al.
Genome Biology, 2025
Improving Familial Hypercholesterolemia Detection Through Implementation of Nurse-led Cascade Screening.
McCarron EP et al.
British Journal of Hospital Medicine (london, England : 2005), 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 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
Clinical familial hypercholesterolemia - factors influencing diagnosis and cardiovascular risk in the general population.
Toft-Nielsen F et al.
European Journal of Internal Medicine, 2025
Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.
Aliosaitiene U et al.
Journal of Cardiovascular Development and Disease, 2025
Role of Next-Generation Sequencing in Diagnosis of Familial Hypercholesterolemia in Serbia.
Lukac SS et al.
Diagnostics (basel, Switzerland), 2025
Methylome-wide association analyses of lipids and modifying effects of behavioral factors in diverse race and ethnicity participants.
Hu Y et al.
Clinical Epigenetics, 2025
Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?
Tandirerung FJ
Cardiovascular Drugs and Therapy, 2025
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene.
Pilz RA et al.
European Journal of Medical Genetics, 2025
Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case-Control Study in the Polish Population.
Ambroziak M et al.
International Journal of Molecular Sciences, 2025
Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.
Adolfsson E et al.
Atherosclerosis Plus, 2025
Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.
Ferch M et al.
European Journal of Preventive Cardiology, 2025
A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.
Kalwick M et al.
Nutrients, 2025
Structure of apolipoprotein B100 bound to the low-density lipoprotein receptor.
Reimund M et al.
Nature, 2025
A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies.
Li X et al.
Nature Computational Science, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
[Mechanism of the Molecular Pathophysiology for Familial Hypercholesterolemia].
Hori M
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 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
Case Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival.
Zlatohlávek L et al.
Frontiers in Cardiovascular Medicine, 2025
Exploration of calcium and amino acids for children with primary cardiomyopathies based on genetic characteristics.
Jiang S et al.
Frontiers in Pediatrics, 2025
Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Huang MN et al.
Lipids in Health and Disease, 2024
Genetic disease amongst the Plain community.
Mascia KL
Current Opinion in Pediatrics, 2024
Variants in LPA are associated with Familial Hypercholesterolaemia: whole genome sequencing analysis in the 100,000 Genomes Project.
Bird M et al.
European Journal of Preventive Cardiology, 2024
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study.
Constantin AT et al.
Medicina (kaunas, Lithuania), 2024
An 8-SNP LDL Cholesterol Polygenic Score: Associations with Cardiovascular Risk Traits, Familial Hypercholesterolemia Phenotype, and Premature Coronary Heart Disease in Central Romania.
Mănescu IB et al.
International Journal of Molecular Sciences, 2024
Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations.
Koyama S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024