Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
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
Evolocumab Treatment in Pediatric Patients With Homozygous Familial Hypercholesterolemia: Pooled Data From Three Open-Label Studies.
Raal FJ et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2024
Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity.
Fazeli E et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2024
OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues.
Larrea-Sebal A et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 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
Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.
Yip MK et al.
Genes, 2023
Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy.
Nielsen SK et al.
Jacc. Advances, 2023
Structural Organization of the Retriever-CCC Endosomal Recycling Complex.
Boesch DJ et al.
Biorxiv : the Preprint Server for Biology, 2023
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
Cascade Screening for Familial Hypercholesterolemia in South Africa: The Wits FIND-FH Program.
Raal FJ et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
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
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 2018
Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.
Smyth N et al.
Current Opinion in Lipidology, 2018
Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): a reappraisal by using a resequencing approach.
Minicocci I et al.
Atherosclerosis, 2015
Role of animal models in HCM research.
Shephard R et al.
Journal of Cardiovascular Translational Research, 2009
Evaluation of high-resolution melting analysis for screening the LDL receptor gene.
Laurie AD et al.
Clinical Biochemistry, 2009
Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
Wright WT et al.
Clinical Genetics, 2008
Simultaneous detection of multiple familial hypercholesterolemia mutations facilitates an improved diagnostic service in South african patients at high risk of cardiovascular disease.
Kotze MJ et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2003
Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.
Miltiadous G et al.
Human Mutation, 2001
Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward.
Mollaki V et al.
Journal of Clinical Lipidology, 0
Ezetimibe in the management of homozygous familial hypercholesterolaemia.
Mansfield BS et al.
Journal of Clinical Lipidology, 0