Associated Papers
A nationwide genetic and phenotypic spectrum of 63 probands of homozygous familial hypercholesterolemia in Taiwan.
Lin CF et al.
Journal of Clinical Lipidology, 2026
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 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
Coronary artery bypass grafting in a 14-year-old boy with compound heterozygous LDLR familial hypercholesterolemia: a case report.
Zhu K 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
LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.
Wang K et al.
Lipids in Health and Disease, 2024
Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.
Yip MK et al.
Genes, 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
High-Throughput Microscopy Characterization of Rare LDLR Variants.
Graça R et al.
Jacc. Basic to Translational Science, 2023
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges JB et al.
Gene, 2023
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Gratton J et al.
Jacc. Advances, 2023
Pregnancy in homozygous familial hypercholesterolemia-A case series.
Bláha M et al.
Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2022
Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.
Du Z et al.
Iscience, 2022
Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.
Zhang J et al.
Lipids in Health and Disease, 2022
2022 Consensus statement on the management of familial hypercholesterolemia in Korea.
Lee CJ et al.
The Korean Journal of Internal Medicine, 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
Effects of statins on the inducible degrader of low-density lipoprotein receptor in familial hypercholesterolemia.
Chan ML et al.
Endocrine Connections, 2022
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
Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.
Fahed AC et al.
Jama Network Open, 2022
Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia.
Soufi M et al.
Frontiers in Genetics, 2022
Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.
Alnouri F et al.
Current Vascular Pharmacology, 2022
Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.
Tada H et al.
Frontiers in Genetics, 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
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia.
Benedek P et al.
Journal of Internal Medicine, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.
Meshkov AN et al.
Journal of Personalized Medicine, 2021
Genetic basis of hypercholesterolemia in adults.
Saadatagah S et al.
Npj Genomic Medicine, 2021
Monitoring of up to 15 years effects of lipoprotein apheresis on lipids, biomarkers of inflammation, and soluble endoglin in familial hypercholesterolemia patients.
Víšek J et al.
Orphanet Journal of Rare Diseases, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.
Moradi A et al.
Frontiers in Genetics, 2021
Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.
Wang H et al.
Journal of Atherosclerosis and Thrombosis, 2020
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Fahed AC et al.
Nature Communications, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
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
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
Genetic Diagnosis of Familial Hypercholesterolemia in Asia.
Huang CC et al.
Frontiers in Genetics, 2020
Genetics of Familial Hypercholesterolemia: New Insights.
Vrablik M et al.
Frontiers in Genetics, 2020
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.
Chan ML et al.
Molecular Genetics & Genomic Medicine, 2019
Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.
Cao YX et al.
Journal of Translational Medicine, 2018
In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.
Morad FA et al.
Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2018
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
Pek SLT et al.
Atherosclerosis, 2018
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
Pirillo A et al.
Atherosclerosis. Supplements, 2017