Research output per year
Research output per year
Personal profile
Research interests
My research focuses on studying the inherited basis of cardiovascular disease at the intersection of computational biology and human genetics. Using a variety of techniques in genomics and bioinformatics, my laboratory is interested in: 1) Identifying novel genes and pathways underlying both Mendelian and complex forms of disease; 2) Developing innovative computational methods for the analysis of complex genetic data; and 3) Applying insights gained from human genetics to improve patient care.
Clinical interests
Cardiovascular genetics; inherited cardiovascular disease; genetic syndromes; cardiomyopathy, arrhythmia genetics
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Distribution of 54 polygenic risk scores for common diseases in long lived individuals and their offspring
Gunn, S., Wainberg, M., Song, Z., Andersen, S., Boudreau, R., Feitosa, M. F., Tan, Q., Montasser, M. E., O’Connell, J. R., Stitziel, N., Price, N., Perls, T., Schork, N. J. & Sebastiani, P., Apr 2022, In: GeroScience. 44, 2, p. 719-729 11 p.Research output: Contribution to journal › Article › peer-review
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Association of structural variation with cardiometabolic traits in Finns
Chen, L., Abel, H. J., Das, I., Larson, D. E., Ganel, L., Kanchi, K. L., Regier, A. A., Young, E. P., Kang, C. J., Scott, A. J., Chiang, C., Wang, X., Lu, S., Christ, R., Service, S. K., Chiang, C. W. K., Havulinna, A. S., Kuusisto, J., Boehnke, M., Laakso, M. & 6 others, , Apr 1 2021, In: American journal of human genetics. 108, 4, p. 583-596 14 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Comments on Letter to the Editor entitled: “Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type1 and Emery Dreifuss Muscular Dystrophy”
Sommerville, R. B., Vincenti, M. G., Winborn, K., Casey, A., Stitziel, N. O., Connolly, A. M. & Mann, D. L., Jan 2021, In: Trends in Cardiovascular Medicine. 31, 1, p. e3Research output: Contribution to journal › Letter › peer-review
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Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences
Ganel, L., Chen, L., Christ, R., Vangipurapu, J., Young, E., Das, I., Kanchi, K., Larson, D., Regier, A., Abel, H., Kang, C. J., Scott, A., Havulinna, A., Chiang, C. W. K., Service, S., Freimer, N., Palotie, A., Ripatti, S., Kuusisto, J., Boehnke, M. & 4 others, , Dec 2021, In: Human genomics. 15, 1, 34.Research output: Contribution to journal › Article › peer-review
Open Access -
SVEP1 is a human coronary artery disease locus that promotes atherosclerosis
Jung, I. H., Elenbaas, J. S., Alisio, A., Santana, K., Young, E. P., Kang, C. J., Kachroo, P., Lavine, K. J., Razani, B., Mecham, R. P. & Stitziel, N. O., Mar 24 2021, In: Science translational medicine. 13, 586, eabe0357.Research output: Contribution to journal › Article › peer-review
2 Scopus citations