Associated Papers
Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients.
Zahwo RA et al.
Human Genomics, 2025
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.
Medeiros AM et al.
Journal of Lipid Research, 2024
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
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges JB et al.
Gene, 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
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia.
Hori M et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Handelman SK et al.
Hepatology Communications, 2022
Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.
Dagli-Hernandez C et al.
Pharmaceutics, 2022
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Watkins WS et al.
Nature Communications, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.
Zhou Y et al.
Journal of Lipid Research, 2018
Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia.
Alves AC et al.
Atherosclerosis, 2018
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.
Medeiros AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
Pooled DNA resequencing of 68 myocardial infarction candidate genes in French canadians.
Beaudoin M et al.
Circulation. Cardiovascular Genetics, 2012