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
41127896 (PubMed )
Supplement: ehaf815_supplementary_data.pdf
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
Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor.
Pussadhamma B et al.
Scientific Reports, 2024
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.
Hutchcraft ML et al.
Journal of Personalized Medicine, 2022
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Elfatih A et al.
Human Mutation, 2021
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
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
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