Associated Papers
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.
Katsanis N et al.
Human Genomics, 2025
41287107 (PubMed )
Supplement: 40246_2025_831_MOESM1_ESM.docx
Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.
Pan-Lizcano R et al.
International Journal of Molecular Sciences, 2022
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
Del Angel G et al.
Human Mutation, 2019
31180157 (PubMed )
Supplement: HUMU-40-2007-s003.xlsx › Supplementary_Table_3
Unusual genetic variants associated with hypercholesterolemia in Argentina.
Corral P et al.
Atherosclerosis, 2018
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