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
Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with angiographically documented premature coronary artery disease.
Liang KW et al.
Scientific Reports, 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
Germline mutational landscape in a large cohort of Indian breast cancer.
Peter J et al.
Bmc Cancer, 2025
The clinical utility of systematic reporting of secondary findings in prenatal diagnosis.
Yin K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Heritable Burden of Community Sudden Death by Autopsy and Molecular Phenotyping for Precision Genotype Correlation.
Tseng ZH et al.
Jacc. Clinical Electrophysiology, 2025
Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.
Adolfsson E et al.
Atherosclerosis Plus, 2025
Structure of apolipoprotein B100 bound to the low-density lipoprotein receptor.
Reimund M et al.
Nature, 2025
[Mechanism of the Molecular Pathophysiology for Familial Hypercholesterolemia].
Hori M
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 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
Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies.
Wu Y et al.
Frontiers in Genetics, 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
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
Early-onset Parkinson's disease with mutations in both the PRKN gene and the APOB gene: A case report.
Bing S et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2024
Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.
Zhang Y et al.
Jama Cardiology, 2024
Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns.
Zhou Y et al.
Clinical Genetics, 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
Exploring LDLR-APOB Interactions in Familial Hypercholesterolemia in the Vietnamese Population: A Protein-Protein Docking Approach.
Kim NT et al.
Bioinformatics and Biology Insights, 2024
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
Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction.
Lee WJ et al.
Scientific Reports, 2023
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 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
Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.
Totoń-Żurańska J et al.
Polish Archives of Internal Medicine, 2023
Case Series of Genetically Confirmed Index Cases of Familial Hypercholesterolemia in Primary Care.
Kamal A et al.
The American Journal of Case Reports, 2023
Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients.
Rodríguez-Jiménez C et al.
International Journal of Molecular Sciences, 2023
Genetic and molecular architecture of familial hypercholesterolemia.
Abifadel M et al.
Journal of Internal Medicine, 2023
Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.
Jingxin S et al.
Molecular Genetics & Genomic Medicine, 2022
Pleiotropic Effects of APOB Variants on Lipid Profiles, Metabolic Syndrome, and the Risk of Diabetes Mellitus.
Jang SJ et al.
International Journal of Molecular Sciences, 2022
Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.
Razman AZ et al.
International Journal of Molecular Sciences, 2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing.
Cheung F et al.
Journal of Genetic Counseling, 2022
Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.
Lee NY et al.
Cancers, 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
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 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
Familial Hypercholesterolemia: Real-World Data of 1236 Patients Attending a Czech Lipid Clinic. A Retrospective Analysis of Experience in More than 50 years. Part I: Genetics and Biochemical Parameters.
Todorovova V et al.
Frontiers in Genetics, 2022
Epilepsy Combined With Multiple Gene Heterozygous Mutation.
Qiuju H et al.
Frontiers in Pediatrics, 2022
Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.
Abdollahi S et al.
Biomarker Research, 2021
Comprehensive analysis of mutations and clonal evolution patterns in a cohort of patients with cytogenetically normal acute myeloid leukemia.
Mat Yusoff Y et al.
Molecular Cytogenetics, 2021
Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.
Lee WJ et al.
Genes, 2021