Associated Papers
Validation of the 2022 Clinical Diagnostic Criteria of Familial Hypercholesterolemia in Japan.
Tada H et al.
Journal of Atherosclerosis and Thrombosis, 2024
Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank.
Gratton J et al.
Bmj Public Health, 2023
40017868 (PubMed )
Supplement: bmjph-1-1-s001.pdf
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Gratton J et al.
Jacc. Advances, 2023
38938233 (PubMed )
Supplement: mmc1.docx
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1
Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.
Tada H et al.
Frontiers in Genetics, 2022
35480308 (PubMed )
Supplement: Presentation1.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 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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