Associated Papers
Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.
Adolfsson E et al.
Atherosclerosis Plus, 2025
Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease.
Junna N et al.
Atherosclerosis, 2023
Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia.
Shaik NA et al.
The Journal of Gene Medicine, 2020
NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.
Bertucci F et al.
Molecular Oncology, 2020
31854063 (PubMed )
Supplement: MOL2-14-504-s010.xlsx › TableS3
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.
Fahed AC et al.
Molecular Genetics & Genomic Medicine, 2016
Select a paper to view details