Associated Papers
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
Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia.
Pears R et al.
Current Opinion in Lipidology, 2015
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.
Maglio C et al.
Journal of Internal Medicine, 2014
Individuals with familial hypercholesterolemia and cardiovascular events have higher circulating Lp(a) levels.
Pavanello C et al.
Journal of Clinical Lipidology, 0
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