Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf
Child-parent cascade screening for familial hypercholesterolemia in Slovenia: Insights from the pilot program.
Šikonja J et al.
Atherosclerosis, 2025
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Stevens CAT et al.
Journal of the American Heart Association, 2024
38879446 (PubMed )
Supplement: JAH3-13-e034434-s001.pdf
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS7_tiling_screen.xlsx › TableSX_tiling_screen
Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series.
Marusic T et al.
Frontiers in Genetics, 2020
Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)-Long-Term Follow-Up of a Patient and Literature Review.
Mlinaric M et al.
Frontiers in Pediatrics, 2020
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
Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.
Maglio C et al.
Journal of Internal Medicine, 2014
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
Widhalm K et al.
Journal of Inherited Metabolic Disease, 2007
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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