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
Available to Mentor:
- PhD Students
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Collaborations and top research areas from the last five years
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Clinical Insights from Proteomics in Heart Failure
Lotfinaghsh, A., Imam, A., Pompian, A., Stitziel, N. O. & Javaheri, A., Dec 2025, In: Current Heart Failure Reports. 22, 1, 12.Research output: Contribution to journal › Review article › peer-review
1 Link opens in a new tab Scopus citations -
Decoding the Therapeutic Target SVEP1: Harnessing Molecular Trait GWASs to Unravel Mechanisms of Human Disease
Elenbaas, J. S., Lee, P. C., Patel, V. & Stitziel, N. O., Jan 23 2025, In: Annual Review of Pharmacology and Toxicology. 65, 1, p. 131-148 18 p.Research output: Contribution to journal › Review article › peer-review
Open Access1 Link opens in a new tab Scopus citations -
Effect of complete, lifelong ANGPTL3 deficiency on triglyceride-rich lipoprotein kinetics
Fappi, A., Patterson, B. W., Burks, K. H., Davidson, N. O., Vaisar, T., Kanter, J. E., Bornfeldt, K. E., Fisher, E. A., Goldberg, I. J., Stitziel, N. O. & Mittendorfer, B., Jun 17 2025, In: Cell Reports Medicine. 6, 6, 102152.Research output: Contribution to journal › Article › peer-review
Open Access -
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Genome Aggregation Database Consortium, Dec 2025, In: Nature communications. 16, 1, 9623.Research output: Contribution to journal › Article › peer-review
Open Access -
LRRC8 complexes are ATP release channels that regulate platelet activation and arterial thrombosis
Tranter, J. D., Mikami, R. T., Kumar, A., Brown, G., Abd El-Aziz, T. M., Zhao, Y., Arullampalam, P., Ashworth, K., Jha, V., Abraham, N., Meyer, C., Ajanel, A., Xie, L., Feng, Y., Hong, J., Zhang, H., Kumari, T., Balutowski, A., Liu, A. & Bark, D. & 8 others, , Aug 28 2025, In: Blood. 146, 9, p. 1110-1126 17 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Link opens in a new tab Scopus citations