Associated Papers
LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.
Bogsrud MP et al.
European Heart Journal, 2025
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
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
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
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
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.
Shi M et al.
Stroke and Vascular Neurology, 2022
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women.
Balder JW et al.
Circulation, 2018
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
Pek SLT et al.
Atherosclerosis, 2018
Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.
Hollants S et al.
Clinical Chemistry, 2012
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
Huijgen R et al.
Human Mutation, 2010