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
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Huang MN et al.
Lipids in Health and Disease, 2024
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.
Li W et al.
Stroke and Vascular Neurology, 2024
Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Stevens CAT et al.
Journal of the American Heart Association, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 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
Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.
Oladayo A et al.
Molecular Genetics & Genomic Medicine, 2023
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Gratton J et al.
Jacc. Advances, 2023
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Gandhi GD et al.
Journal of Translational Medicine, 2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 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
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.
Tomar S et al.
Circulation. Genomic and Precision Medicine, 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
Assessment of microvascular function and pharmacological regulation in genetically confirmed familial hypercholesterolemia.
Pajkowski M et al.
Microvascular Research, 2021
Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.
Björnsson E et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021
Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.
Lee WJ et al.
Genes, 2021
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Elfatih A et al.
Human Mutation, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Implementing genomic screening in diverse populations.
Abul-Husn NS et al.
Genome Medicine, 2021
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.
Lee C et al.
Lipids in Health and Disease, 2019
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction.
Cui Y et al.
Clinical Cardiology, 2019
Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation.
Gałąska R et al.
Plos One, 2018
Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
Safarova MS et al.
European Journal of Human Genetics : Ejhg, 2017
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L et al.
Scientific Reports, 2015
Noninvasive assessment of endothelial function and vascular parameters in patients with familial and nonfamilial hypercholesterolemia.
Lewandowski P et al.
Polskie Archiwum Medycyny Wewnetrznej, 2014
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
Vandrovcova J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Array-based resequencing for mutations causing familial hypercholesterolemia.
Chiou KR et al.
Atherosclerosis, 2011
Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.
Miyake Y et al.
Atherosclerosis, 2009
Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.
Chiou KR et al.
Journal of Clinical Lipidology, 0