Associated Papers
Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia.
Abraham N et al.
Scientific Reports, 2026
Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.
Schwantes-An TH et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2026
41514510 (PubMed )
Supplement: LIV-46-0-s001.xlsx › Table_S1
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
Evinacumab for Homozygous Familial Hypercholesterolemia: The Italian Cohort of the ELIPSE HoFH Study.
Iannuzzo G et al.
Advances in Therapy, 2025
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
A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.
Di Taranto MD et al.
Journal of Clinical Medicine, 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
Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
Bañares VG et al.
Journal of Clinical Lipidology, 0
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