Associated Papers
Structure of apolipoprotein B100 bound to the low-density lipoprotein receptor.
Reimund M et al.
Nature, 2025
Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Huang MN et al.
Lipids in Health and Disease, 2024
Genetic and molecular architecture of familial hypercholesterolemia.
Abifadel M et al.
Journal of Internal Medicine, 2023
A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia.
Hori M et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Lacaze P et al.
Open Heart, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Miroshnikova VV et al.
Biomedical Reports, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia.
Alves AC et al.
Atherosclerosis, 2018
Short-term effect of rosuvastatin treatment on arterial stiffness in individuals with newly-diagnosed heterozygous familial hypercholesterolemia.
Canepa M et al.
International Journal of Cardiology, 2018
New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.
Elbitar S et al.
Scientific Reports, 2018
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Genetics of familial hypercholesterolemia.
Brautbar A et al.
Current Atherosclerosis Reports, 2015
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
The genetic architecture of the familial hyperlipidaemia syndromes: rare mutations and common variants in multiple genes.
Talmud PJ et al.
Current Opinion in Lipidology, 2014
Leukemic evolution of donor-derived cells harboring IDH2 and DNMT3A mutations after allogeneic stem cell transplantation.
Yasuda T et al.
Leukemia, 2014
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.
Motazacker MM et al.
European Heart Journal, 2012