Associated Papers
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
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
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
ANGPTL3 Deficiency and Protection Against Coronary Artery Disease.
Stitziel NO et al.
Journal of the American College of Cardiology, 2017
Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis.
Minicocci I et al.
Journal of Lipid Research, 2013
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.
Romeo S et al.
The Journal of Clinical Investigation, 2009
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