Associated Papers
The congenital APOA1 K107del mutation disrupts the lipid-free conformation of monomeric APOA1 and impairs oligomerization.
Díaz Ludovico I et al.
Journal of Lipid Research, 2025
A genetic map of human metabolism across the allele frequency spectrum.
Zoodsma M et al.
Nature Genetics, 2025
Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.
Nieminen TT et al.
Bmc Cancer, 2025
41023686 (PubMed )
Supplement: 12885_2025_14865_MOESM2_ESM.xlsx › CRC_II.4_FCCX-W
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.
Tomar S et al.
Circulation. Genomic and Precision Medicine, 2022
Diagnostic utility of genetic testing in patients undergoing renal biopsy.
Benson KA et al.
Cold Spring Harbor Molecular Case Studies, 2020
Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development.
Zanoni P et al.
Current Opinion in Lipidology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
Geller AS et al.
Journal of Lipid Research, 2018
Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.
Sadananda SN et al.
Journal of Lipid Research, 2015
Premature atherosclerosis, extremely low HDL-cholesterol and concurrent defects in APOA1 and ABCA1 genes: a family case report.
Koopal C et al.
International Journal of Cardiology, 2014
ApoA-I mutations, L202P and K131del, in HDL from heterozygotes with low HDL-C.
Ljunggren S et al.
Proteomics. Clinical Applications, 2014
Myocardial infarction in a 36-year-old man with combined ABCA1 and APOA-1 deficiency.
van Capelleveen JC et al.
Journal of Clinical Lipidology, 0
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