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Cardiovascular disease

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.

Small AM, Yang TY, Itoh S, et al. Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction. Nature genetics. 2025. doi:10.1038/s41588-025-02417-6

Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.

Kany S, Rämö JT, Hou C, et al. Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk. Nature genetics. 2025. doi:10.1038/s41588-025-02397-7

Physical Activity and Cardiovascular Outcomes in Phenotype-Negative Cardiomyopathy Variant Carriers.

Ajufo E, Kany S, Jurgens SJ, et al. Physical Activity and Cardiovascular Outcomes in Phenotype-Negative Cardiomyopathy Variant Carriers. JAMA cardiology. 2025. doi:10.1001/jamacardio.2025.4466

Clonal Hematopoiesis and Incident Heart Failure.

Flynn S, Schuermans A, Uddin MM, et al. Clonal Hematopoiesis and Incident Heart Failure. JAMA cardiology. 2025. doi:10.1001/jamacardio.2025.4603

Polygenic Susceptibility in Peripartum, Alcohol-Induced, and Cancer Therapy-Related Cardiomyopathies.

Maamari DJ, Biddinger KJ, Jurgens SJ, et al. Polygenic Susceptibility in Peripartum, Alcohol-Induced, and Cancer Therapy-Related Cardiomyopathies. JAMA cardiology. 2025. doi:10.1001/jamacardio.2025.3248

Contributions of Common, Rare, and Somatic Genetic Variants to Incidence of Atrial Fibrillation.

Zhang R, Kim MS, Yin W, et al. Contributions of Common, Rare, and Somatic Genetic Variants to Incidence of Atrial Fibrillation. JAMA cardiology. 2025. doi:10.1001/jamacardio.2025.3664

An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy.

Huffman JE, Gaziano L, Sayed ZRA, et al. An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy. Nature genetics. 2025. doi:10.1038/s41588-025-02372-2

Coagulation factor XII haploinsufficiency is protective against venous thromboembolism in a population-scale multidimensional analysis.

Haj AK, Paul DS, Jurgens SJ, et al. Coagulation factor XII haploinsufficiency is protective against venous thromboembolism in a population-scale multidimensional analysis. Nature communications. 2025;16(1):8176. doi:10.1038/s41467-025-62789-5

Pathogenic Cardiomyopathy-Associated Gene Variants and Prognosis in Atrial Fibrillation: Results in 18,000 Clinical Trial Participants.

Jurgens SJ, Melloni GEM, Kany S, et al. Pathogenic Cardiomyopathy-Associated Gene Variants and Prognosis in Atrial Fibrillation: Results in 18,000 Clinical Trial Participants. Journal of the American College of Cardiology. 2025;86(10):738-753. doi:10.1016/j.jacc.2025.06.052

A Deep Learning Model to Identify Mitral Valve Prolapse From the Echocardiogram.

Al-Alusi MA, Lau ES, Small AM, et al. A Deep Learning Model to Identify Mitral Valve Prolapse From the Echocardiogram. JACC. Cardiovascular imaging. 2025. doi:10.1016/j.jcmg.2025.08.011