Associated Papers
Comorbidities and Molecular Genetics Status in Familial and Nonfamilial Hypercholesterolemia: A Single-Center Study.
Timoshchenko O et al.
International Journal of Molecular Sciences, 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
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
Unsupervised learning reveals landscape of local structural motifs across protein classes.
Derry A et al.
Bioinformatics (oxford, England), 2025
Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.
Aliosaitiene U et al.
Journal of Cardiovascular Development and Disease, 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
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
Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.
Atava I et al.
International Journal of Molecular Sciences, 2024
Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia.
Blokhina AV et al.
International Journal of Molecular Sciences, 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
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
Membrane Transporter of Serotonin and Hypercholesterolemia in Children.
Sadykova D et al.
International Journal of Molecular Sciences, 2024
Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.
Yip MK et al.
Genes, 2023
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning.
Ivanoshchuk DE et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing.
Latkovskis G et al.
Journal of Clinical Medicine, 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
Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.
Du Z et al.
Iscience, 2022
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 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
Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia.
Nurm M et al.
Frontiers in Genetics, 2022
Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).
Shakhtshneider E et al.
Journal of Personalized Medicine, 2021
Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.
Lee WJ et al.
Genes, 2021
Characterization of familial hypercholesterolemia in Taiwanese ischemic stroke patients.
Tung H et al.
Aging, 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
Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.
Kalra S et al.
Journal of Atherosclerosis and Thrombosis, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Miroshnikova VV et al.
Biomedical Reports, 2021
Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.
Semenova AE et al.
Journal of Cardiovascular Development and Disease, 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
Genetic Diagnosis of Familial Hypercholesterolemia in Asia.
Huang CC et al.
Frontiers in Genetics, 2020
Case Report: Cardiac Surgery and Combined Lipid-Lowering Drug Therapy for Homozygous Familial Hypercholesterolemia.
Gao M et al.
Frontiers in Pediatrics, 2020
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.
Alver M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Current status of familial hypercholesterolemia in Chinese populations.
Tomlinson B et al.
Current Opinion in Lipidology, 2019
Familial hypercholesterolemia in China half a century: A review of published literature.
Peng J et al.
Atherosclerosis. Supplements, 2019
Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.
Chan ML et al.
Molecular Genetics & Genomic Medicine, 2019
Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.
Chen P et al.
Frontiers in Physiology, 2019