Associated Papers
Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries.
Alieva A et al.
European Journal of Internal Medicine, 2024
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J et al.
Nature Genetics, 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
MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants.
Larrea-Sebal A et al.
Jacc. Basic to Translational Science, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
34108472 (PubMed )
Supplement: 41467_2021_23556_MOESM3_ESM.xlsx › Supp_Data_2
The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.
Meshkov AN et al.
Journal of Personalized Medicine, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
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
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Marduel M et al.
Human Mutation, 2010
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.
Taylor A et al.
Clinical Genetics, 2010
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