Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
41473288 (PubMed )
Supplement: media-1.xlsx › SuppTable1
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1
Familial hypercholesterolaemia with early-onset coronary artery disease and recurrent in-stent restenosis associated with the LDLR gene c.428G>A mutation: a case report.
Zhang C et al.
Frontiers in Cardiovascular Medicine, 2025
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
38258479 (PubMed )
Supplement: ADVS-11-2305177-s001.pdf
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_3
Functional analysis of six uncharacterised mutations in LDLR gene.
Gomez A et al.
Atherosclerosis, 2019
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.
Wang X et al.
Journal of Geriatric Cardiology : Jgc, 2018
Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.
Kim HN et al.
Chonnam Medical Journal, 2018
The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.
Jiang L et al.
Scientific Reports, 2016
Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients.
Wang L et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2009
Molecular characterization of familial hypercholesterolemia in German and Greek patients.
Dedoussis GV et al.
Human Mutation, 2004
The UMD-LDLR database: additions to the software and 490 new entries to the database.
Villéger L et al.
Human Mutation, 2002
Genetic diagnosis of familial hypercholesterolemia in Han Chinese.
Chiou KR et al.
Journal of Clinical Lipidology, 0
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