Associated Papers
Genomic Drivers of Coronary Artery Disease and Risk of Future Outcomes After Coronary Angiography.
Supriami K et al.
Jama Network Open, 2025
39836422 (PubMed )
Supplement: jamanetwopen-e2455368-s001.pdf
Diagnosis of Familial Hypercholesterolemia in Children and Young Adults.
Timoshchenko O et al.
International Journal of Molecular Sciences, 2023
Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.
Yip MK et al.
Genes, 2023
Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning.
Ivanoshchuk DE et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
34923710 (PubMed )
Supplement: HUMU-43-1114-s002.xlsx › Supplemental_Table_1
Effects of statins on the inducible degrader of low-density lipoprotein receptor in familial hypercholesterolemia.
Chan ML et al.
Endocrine Connections, 2022
35560019 (PubMed )
Supplement: supplementary_table_1.pdf
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
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P et al.
Human Mutation, 2004
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