Associated Papers
Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia.
Abraham N et al.
Scientific Reports, 2026
Update on familial hypercholesterolemia: An expert clinical consensus from the National Lipid Association.
Ahmad Z et al.
Journal of Clinical Lipidology, 2026
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
Canadian and French Risk Scores Are Valid in Identifying Cardiovascular Disease in Australian Patients With Familial Hypercholesterolemia.
Tamehri Zadeh SS et al.
The Canadian Journal of Cardiology, 2025
Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.
Humphries SE et al.
Annals of Human Genetics, 2025
The First Japanese Case of Familial Hypercholesterolemia Caused by an apolipoprotein E (APOE) p.Leu167del Mutation.
Tada H et al.
Internal Medicine (tokyo, Japan), 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.
Matsunaga A et al.
Journal of Atherosclerosis and Thrombosis, 2025
Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.
Adolfsson E et al.
Atherosclerosis Plus, 2025
Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (APOE) Variants.
Ferreira EA et al.
Genes, 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
Is it time for a paradigm shift? Inclusion of APOE on genetic dyslipidemia panels.
Ison HE et al.
Journal of Genetic Counseling, 2025
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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
APOE and familial hypercholesterolemia.
Civeira F et al.
Current Opinion in Lipidology, 2024
Expanded genetic testing in familial hypercholesterolemia-A single center's experience.
Brown EE et al.
American Journal of Preventive Cardiology, 2024
Genetic testing for familial hypercholesterolemia.
Zhang Y et al.
Current Opinion in Lipidology, 2024
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.
Medeiros AM et al.
Journal of Lipid Research, 2024
Corrigendum to "APOE gene variants in primary dyslipidemia" [Atherosclerosis (2021 Jul) 328 11-22].
Abou Khalil Y et al.
Atherosclerosis, 2023
Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?
Humphries SE et al.
Current Atherosclerosis Reports, 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
Familial dyslipidemias: Genotype-phenotype relationship.
Sánchez-Hernández RM et al.
Endocrinologia, Diabetes Y Nutricion, 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
Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL-C and LPA genetic scores.
Schwaninger G et al.
Clinical Genetics, 2023
Familial Hypercholesterolemia: Pitfalls and Challenges in Diagnosis and Treatment.
Arnold N et al.
Reviews in Cardiovascular Medicine, 2023
Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Marmontel O et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2023
Contribution of APOE Genetic Variants to Dyslipidemia.
Bea AM et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2023
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Gratton J et al.
Jacc. Advances, 2023
Genetics of Alzheimer's disease: an East Asian perspective.
Miyashita A et al.
Journal of Human Genetics, 2023
Familial hypercholesterolemia in an Iranian family due to a mutation in the APOE gene (first case report).
Noorian S et al.
Journal of Diabetes and Metabolic Disorders, 2022
APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.
Abou Khalil Y et al.
International Journal of Molecular Sciences, 2022
Familial combined hyperlipidemia is a polygenic trait.
Gill PK et al.
Current Opinion in Lipidology, 2022
Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.
Martín-Campos JM
Biomedicines, 2021
Multiplex Protein Biomarker Profiling in Patients with Familial Hypercholesterolemia.
Dlouha D et al.
Genes, 2021
Beyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia.
Ibrahim S et al.
Expert Review of Molecular Diagnostics, 2021
Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.
Hindi NN et al.
Journal of Personalized Medicine, 2021
Successful Genetic Screening and Creating Awareness of Familial Hypercholesterolemia and Other Heritable Dyslipidemias in the Netherlands.
Zuurbier LC et al.
Genes, 2021
Improvement of Definite Diagnosis of Familial Hypercholesterolemia Using an Expanding Genetic Analysis.
Cao YX et al.
Jacc. Asia, 2021
Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data.
Sabatel-Pérez F et al.
Journal of Clinical Medicine, 2021
Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.
Rieck L et al.
Clinical Genetics, 2020
The atherogenic role of immune cells in familial hypercholesterolemia.
Taghizadeh E et al.
Iubmb Life, 2020
Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?
Page MM et al.
Clinical Genetics, 2020