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Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. Circulation 139, 1593-1602 (2019).
What Is Familial Hypercholesterolemia, and Why Does It Matter?. Circulation 141, 1760-1763 (2020).
Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians. J Am Coll Cardiol 76, 703-714 (2020).
Transethnic Transferability of a Genome-Wide Polygenic Score for Coronary Artery Disease. Circ Genom Precis Med 14, e003092 (2021).
Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol 75, 1239-1241 (2020).
A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun 11, 3635 (2020).
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. PLoS Genet 16, e1008629 (2020).
Heterozygous Gene Deficiency and Risk of Coronary Artery Disease. Circ Genom Precis Med 13, 417-423 (2020).
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet 50, 1219-1224 (2018).
Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery Disease. Arterioscler Thromb Vasc Biol 40, 2738-2746 (2020).
Genetics of coronary artery disease: discovery, biology and clinical translation. Nat Rev Genet 18, 331-344 (2017).
Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. N Engl J Med 375, 2349-2358 (2016).
Genetic Predictor to Identify Individuals With High Lipoprotein(a) Concentrations. Circ Genom Precis Med 14, e003182 (2021).
Is Coronary Atherosclerosis One Disease or Many? Setting Realistic Expectations for Precision Medicine. Circulation 135, 1005-1007 (2017).
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. JAMA Netw Open 3, e203959 (2020).
Association of Genetic Variation With Cirrhosis: A Multi-Trait Genome-Wide Association and Gene-Environment Interaction Study. Gastroenterology 160, 1620-1633.e13 (2021).
ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. J Am Coll Cardiol 69, 2054-2063 (2017).
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease. Nat Commun 9, 1613 (2018).