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/MSTP Students

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Collaborations and top research areas from the last five years

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  • A genomic mutational constraint map using variation in 76,156 human genomes

    Genome Aggregation Database Consortium, Jan 4 2024, In: Nature. 625, 7993, p. 92-100 9 p.

    Research output: Contribution to journalArticlepeer-review

    21 Scopus citations
  • ANGPTL3 deficiency impairs lipoprotein production and produces adaptive changes in hepatic lipid metabolism

    Burks, K. H., Xie, Y., Gildea, M., Jung, I. H., Mukherjee, S., Lee, P., Pudupakkam, U., Wagoner, R., Patel, V., Santana, K., Alisio, A., Goldberg, I. J., Finck, B. N., Fisher, E. A., Davidson, N. & Stitziel, N. O., Feb 2024, In: Journal of lipid research. 65, 2, 100500.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes (Nature, (2024), 625, 7993, (92-100), 10.1038/s41586-023-06045-0)

    Genome Aggregation Database Consortium, Feb 1 2024, In: Nature. 626, 7997, p. E1

    Research output: Contribution to journalComment/debate

    Open Access
  • Identification of a leucine-mediated threshold effect governing macrophage mTOR signalling and cardiovascular risk

    Zhang, X., Kapoor, D., Jeong, S. J., Fappi, A., Stitham, J., Shabrish, V., Sergin, I., Yousif, E., Rodriguez-Velez, A., Yeh, Y. S., Park, A., Yurdagul, A., Rom, O., Epelman, S., Schilling, J. D., Sardiello, M., Diwan, A., Cho, J., Stitziel, N. O., Javaheri, A., & 3 othersLodhi, I. J., Mittendorfer, B. & Razani, B., Feb 2024, In: Nature Metabolism. 6, 2, p. 359-377 19 p.

    Research output: Contribution to journalArticlepeer-review

  • Inferring compound heterozygosity from large-scale exome sequencing data

    Guo, M. H., Francioli, L. C., Stenton, S. L., Goodrich, J. K., Watts, N. A., Singer-Berk, M., Groopman, E., Darnowsky, P. W., Solomonson, M., Baxter, S., Abreu, M., Salinas, C. A. A., Ahmad, T., Albert, C. M., Alföldi, J., Ardissino, D., Armean, I. M., Atzmon, G., Banks, E., Barnard, J., & 212 othersBaxter, S. M., Beaugerie, L., Benjamin, E. J., Benjamin, D., Bergelson, L., Boehnke, M., Bonnycastle, L. L., Bottinger, E. P., Bowden, D. W., Bown, M. J., Brant, S., Calvo, S. E., Campos, H., Chambers, J. C., Chan, J. C., Chao, K. R., Chapman, S., Chasman, D., Chen, S., Chisholm, R. L., Cho, J., Chowdhury, R., Chung, M. K., Chung, W. K., Cibulskis, K., Cohen, B., Collins, R. L., Connolly, K. M., Correa, A., Covarrubias, M., Cummings, B., Dabelea, D., Danesh, J., Darbar, D., Denny, J., Donnelly, S., Duggirala, R., Dupuis, J., Ellinor, P. T., Elosua, R., Emery, J., England, E., Erdmann, J., Esko, T., Evangelista, E., Farjoun, Y., Fatkin, D., Ferriera, S., Florez, J., Franke, A., Färkkilä, M., Gabriel, S., Garimella, K., Gauthier, L. D., Gentry, J., Getz, G., Glahn, D. C., Glaser, B., Glatt, S. J., Goldstein, D., Gonzalez, C., Groop, L., Gudmundsson, S., Gupta, N., Haessly, A., Haiman, C., Hall, I., Hanis, C., Harms, M., Hiltunen, M., Holi, M. M., Hultman, C. M., Jalas, C., Jeandet, T., Kallela, M., Kaplan, D., Kaprio, J., Kathiresan, S., Kenny, E., Kim, B. J., Kim, Y. J., Kirov, G., Koenig, Z., Kooner, J., Koskinen, S., Krumholz, H. M., Kugathasan, S., Kwak, S. H., Laakso, M., Lake, N., Langsford, T., Laricchia, K. M., Lehtimäki, T., Lek, M., Lipscomb, E., Llanwarne, C., Loos, R. J. F., Lubitz, S. A., Luna, T. T., Ma, R. C. W., Marcus, G. M., Marrugat, J., Martin, A. R., Mattila, K. M., McCarroll, S., McCarthy, M. I., McCauley, J., McGovern, D., McPherson, R., Meigs, J. B., Melander, O., Metspalu, A., Meyers, D., Minikel, E. V., Mitchell, B. D., Mootha, V. K., Munshi, R., Naheed, A., Nazarian, S., Nilsson, P. M., Novod, S., O’Donnell-Luria, A. H., O’Donovan, M. C., Okada, Y., Ongur, D., Orozco, L., Owen, M. J., Palmer, C., Palmer, N. D., Palotie, A., Park, K. S., Pato, C., Petrillo, N., Phu, W., Poterba, T., Pulver, A. E., Rader, D., Rahman, N., Reiner, A., Remes, A. M., Rhodes, D., Rich, S., Rioux, J. D., Ripatti, S., Roazen, D., Roden, D. M., Rotter, J. I., Ruano-Rubio, V., Sahakian, N., Saleheen, D., Salomaa, V., Saltzman, A., Samani, N. J., Scharf, J., Schleicher, M., Schunkert, H., Schönherr, S., Seaby, E., Seed, C., Shah, S. H., Shand, M., Shoemaker, M. B., Shyong, T., Silverman, E. K., Sklar, P., Smith, J. G., Smith, J. T., Soininen, H., Sokol, H., Son, R. G., Soto, J., Spector, T., Stevens, C., Stitziel, N., Sullivan, P. F., Suvisaari, J., Tai, E. S., Talkowski, M. E., Tarasova, Y., Taylor, K. D., Teo, Y. Y., Tibbetts, K., Tolonen, C., Tsuang, M., Tuomi, T., Turner, D., Tusie-Luna, T., Vartiainen, E., Vawter, M., Vittal, C., Wade, G., Wang, A., Wang, Q., Ware, J. S., Watkins, H., Weersma, R. K., Weisburd, B., Wessman, M., Whiffin, N., Wilson, M. W., Wilson, J. G., Xavier, R. J., Yohannes, M. T., Tiao, G., Neale, B. M., Hirschhorn, J. N., Rehm, H. L., Daly, M. J., O’Donnell-Luria, A., Karczewski, K. J., MacArthur, D. G. & Samocha, K. E., Jan 2024, In: Nature Genetics. 56, 1, p. 152-161 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations