Associated Papers
Genomic and clinical predictors of cardiovascular disease in Familial dyslipidemia: risk stratification in Egyptian adolescents and young adults.
Metwally AM et al.
Lipids in Health and Disease, 2025
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Functional characterization of 16 variants found in the LDL receptor gene.
Konečná K et al.
Journal of Lipid Research, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 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
Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.
Chen HY et al.
Plos One, 2025
Prevalence of genetically diagnosed familial hypercholesterolemia in Vietnamese patients with premature acute myocardial infarction.
Nguyen KM et al.
Medicine, 2024
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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
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
Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.
Luo H et al.
The Journal of Investigative Dermatology, 2021
ABCC6 deficiency promotes dyslipidemia and atherosclerosis.
Brampton C et al.
Scientific Reports, 2021
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
Jannes CE et al.
Atherosclerosis, 2015
ABCC6- a new player in cellular cholesterol and lipoprotein metabolism?
Kuzaj P et al.
Lipids in Health and Disease, 2014
Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors.
Pisciotta L et al.
Atherosclerosis, 2010