Associated Papers
Structure of apolipoprotein B100 bound to the low-density lipoprotein receptor.
Reimund M et al.
Nature, 2025
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
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Gratton J et al.
Jacc. Advances, 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
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 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
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 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
The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.
Gazzotti M 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
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.
Martone S 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
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
One4Two®: An Integrated Molecular Approach to Optimize Infertile Couples' Journey.
D'Argenio V et al.
Genes, 2021
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
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
Kamar A et al.
Frontiers in Genetics, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.
Sun YV et al.
Circulation. Genomic and Precision Medicine, 2018
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.
Marmontel O et al.
Clinical Genetics, 2018
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
Pirillo A et al.
Atherosclerosis. Supplements, 2017
Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.
Calandra S et al.
Current Opinion in Lipidology, 2017
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Abul-Husn NS et al.
Science (new York, N.y.), 2016
The panorama of familial hypercholesterolemia in Latin America: a systematic review.
Mehta R et al.
Journal of Lipid Research, 2016
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
Wintjens R et al.
Journal of Lipid Research, 2016
Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.
Fernández-Higuero JA et al.
Scientific Reports, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
Alves AC et al.
Human Molecular Genetics, 2014
Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.
Thomas ER et al.
Molecular Genetics & Genomic Medicine, 2013
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
Bertolini S et al.
Atherosclerosis, 2013
Pooled DNA resequencing of 68 myocardial infarction candidate genes in French canadians.
Beaudoin M et al.
Circulation. Cardiovascular Genetics, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.
Liyanage KE et al.
Critical Reviews in Clinical Laboratory Sciences, 0
Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.
Sjouke B et al.
Journal of Clinical Lipidology, 0