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Susan Dutcher

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Susan Dutcher

Professor of Genetics, Professor of Cell Biology and Physiology

 https://orcid.org/0000-0001-5689-5753

    Willing to Mentor

    Available to Mentor:

    PhD Students

    • 14927
      Citations
    1981 …2026

    Research activity per year

    Personal profile

    Research interests

    In the last few years, knowledge about the role of cilia in human biology has grown exponentially. Defects in cilia are connected to developmental defects as well as adult disorders including obesity and diabetes. Using the alga, Chlamydomonas, we have studied the maturation of basal bodies, the gating of proteins into the cilium, genetic interactions of intraflagellar transport proteins, ciliary motility, and signaling through the ciliary membrane proteins using genetics, cell biology and comparative genomics. These studies have lead to better understanding of the role of cilia in polycystic kidney disease and primary ciliary dyskinesia. Recently, we have examined the role of cilia genes in cancer.

    Available to Mentor:

    • PhD Students

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    • cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions

      NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Feb 2026, In: Nature Methods. 23, 2, p. 338-349 12 p.

      Research output: Contribution to journal › Article › peer-review

    • Whole genome sequence analysis of pulmonary function and COPD in 44,287 multi-ancestry participants

      Kim, W., Hu, X., Kim, K., Chun, S., Orchard, P., Qiao, D., Ruczinski, I., Saferali, A., Aguet, F., Antonacci-Fulton, L., Balte, P. P., Bartz, T. M., Anamika, W. J., Zhou, X., Duan, J. Y., Brody, J. A., Cade, B. E., Daviglus, M. L., Doddapaneni, H. & Dugan-Perez, S. & 37 others, Dutcher, S. K., Frazar, C. D., Gabriel, S. B., Gharib, S. A., Gupta, N., Hobbs, B. D., Kasela, S., Loehr, L. R., Metcalf, G. A., Muzny, D. M., Oelsner, E. C., Rasmussen-Torvik, L. J., Sitlani, C. M., Smith, J., Sofer, T., Xu, H., Yu, B., Zhang, D., Ziniti, J., Barr, R. G., Carson, A. P., Fornage, M., Hou, L., Kalhan, R., Kaplan, R., Lappalainen, T., London, S. J., Morrison, A. C., O’Connor, G. T., Psaty, B. M., Raffield, L. M., Redline, S., Rich, S. S., Rotter, J. I., Silverman, E. K., Manichaikul, A. & Cho, M. H., Dec 2026, In: Genome biology. 27, 1, 28.

      Research output: Contribution to journal › Article › peer-review

      Open Access

    • A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies

      NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Li, X., Chen, H., Selvaraj, M. S., Van Buren, E., Zhou, H., Wang, Y., Sun, R., McCaw, Z. R., Yu, Z., Jiang, M. Z., DiCorpo, D., Gaynor, S. M., Dey, R., Arnett, D. K., Benjamin, E. J., Bis, J. C., Blangero, J., Boerwinkle, E. & Bowden, D. W. & 181 others, Brody, J. A., Cade, B. E., Carson, A. P., Carlson, J. C., Chami, N., Chen, Y. D. I., Curran, J. E., de Vries, P. S., Fornage, M., Franceschini, N., Freedman, B. I., Gu, C., Heard-Costa, N. L., He, J., Hou, L., Hung, Y. J., Irvin, M. R., Kaplan, R. C., Kardia, S. L. R., Kelly, T. N., Konigsberg, I., Kooperberg, C., Kral, B. G., Li, C., Li, Y., Lin, H., Liu, C. T., Loos, R. J. F., Mahaney, M. C., Martin, L. W., Mathias, R. A., Mitchell, B. D., Montasser, M. E., Morrison, A. C., Naseri, T., North, K. E., Palmer, N. D., Peyser, P. A., Psaty, B. M., Redline, S., Reiner, A. P., Rich, S. S., Sitlani, C. M., Smith, J. A., Taylor, K. D., Tiwari, H. K., Vasan, R. S., Viali, S., Wang, Z., Wessel, J., Yanek, L. R., Yu, B., de las Fuentes, L., de Andrade, M., Zoellner, S., Zody, M., Ziv, E., Zhu, X., Zhao, W., Zhao, S. X., Zhang, Y., Zekavat, S. M., Yu, K., Yang, I., Xu, H., Wu, J., Wu, B., Wong, Q., Winterkorn, L., Wilson, J., Wilson, C., Williams, S., Williams, L. K., Williams, K., Willer, C., Weng, L. C., Weiss, S. T., Weir, B., Weinstock, J., Weeks, D. E., Watt, J., Watson, K., Wang, J., Wang, H., Wang, F. F., Walts, A., Wallace, R., Walker, T., Vrieze, S., VandeHaar, P., Van Den Berg, D., Vaidya, D., Tsai, M., Tracy, R., Tong, C., Tishkoff, S., Tirschwell, D., Tinker, L., Threlkeld, M., Thornton, T. A., Telen, M., Taylor, S., Taylor, M., Taub, M., Tang, H., Taliun, D., Sériès, F., Szpiro, A., Sylvia, J., Sung, Y. J., Su, J. L., Streeten, E., Storm, G., Stilp, A. M., Sotoodehnia, N., Sofer, T., Snyder, M., Snively, B., Smoller, S., Smith, T., Smith, N., Smith, J., Smith, A. V., Skomro, R., Silverman, E., Silver, B., Shoemaker, M. B., Sheu, W. H. H., Shetty, A., Shetty, A., Sherman, S. L., Sheehan, V., Seidman, J., Seidman, C., Sciurba, F., Schwartz, D., Schwander, K., Santibanez, J., Sankaran, V. G., Sandow, K., Salzberg, S., Salvi, S., Salimi, S., Saleheen, D., Sabino, E. C., Ryan, K., Ruuska, S., Russell, P., Runnels, A., Ruczinski, I., Roselli, C., Dan Roden, R., Robine, N., Robillard, R., Sefuiva Reupena, M., Regan, E., Reeves, C., Reed, R., Ratan, A., Rasmussen-Torvik, L., Rao, D. C., Rajendran, M., Rafaels, N., Qin, Z., Qiao, D., Qasba, P., Preuss, M., Boorgula, M. P., Becker, J. P., Post, W., Pollin, T., Pleiness, J., Phillips, L. S., Peters, U., Perry, J., Perez, M., Peralta, J. M., Parker, C., Papanicolaou, G., Fulton, L. & Dutcher, S. K., Feb 2025, In: Nature Computational Science. 5, 2, p. 125-143 19 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      7   Link opens in a new tab Scopus citations

    • Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

      Regeneron Genetics Center, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Choi, S. H., Jurgens, S. J., Xiao, L., Hill, M. C., Haggerty, C. M., Sveinbjörnsson, G., Morrill, V. N., Marston, N. A., Weng, L. C., Pirruccello, J. P., Arnar, D. O., Gudbjartsson, D. F., Mantineo, H., von Falkenhausen, A. S., Natale, A., Tveit, A., Geelhoed, B. & Roselli, C. & 182 others, Van Wagoner, D. R., Darbar, D., Haase, D., Soliman, E. Z., Davogustto, G. E., Jun, G., Calkins, H., Anderson, J. L., Brody, J. A., Halford, J. L., Barnard, J., Hokanson, J. E., Smith, J. D., Bis, J. C., Young, K., Johnson, L. S. B., Risch, L., Gula, L. J., Kwee, L. C., Chaffin, M. D., Kühne, M., Preuss, M., Gupta, N., Nafissi, N. A., Smith, N. L., Nilsson, P. M., van der Harst, P., Wells, Q. S., Judy, R. L., Schnabel, R. B., Johnson, R., Smit, R. A. J., Gabriel, S., Knight, S., Furukawa, T., Blackwell, T. W., Nauffal, V., Wang, X., Min, Y. I., Yoneda, Z. T., Laksman, Z. W. M., Bezzina, C. R., Alonso, A., Psaty, B. M., Albert, C. M., Arking, D. E., Roden, D. M., Chasman, D. I., Rader, D. J., Conen, D., McManus, D. D., Fatkin, D., Benjamin, E. J., Boerwinkle, E., Marcus, G. M., Christophersen, I. E., Smith, J. G., Roberts, J. D., Raffield, L. M., Shoemaker, M. B., Cho, M. H., Cutler, M. J., Rienstra, M., Chung, M. K., S. Olesen, M., Sinner, M. F., Sotoodehnia, N., Kirchhof, P., Loos, R. J. F., Nazarian, S., Mohanty, S., Damrauer, S. M., Kaab, S., Heckbert, S. R., Redline, S., Shah, S. H., Tanaka, T., Ebana, Y., Wolf, S. E., Widom, L., Verweij, N., Ulloa, R. H., Staples, J. C., Siminovitch, K., Shuldiner, A., Schleicher, T. D., Salerno, W., Reid, J. G., Rasool, A., Pradhan, M., Polanco, T., Panea, R., Padilla, M. S., Overton, J. D., Orelus, M., O’Keeffe, S., Nielsen, J., Nafde, M., Mitnaul, L. J., Mighty, J., Maxwell, E. K., Mansfield, A. J., Manoochehri, K., Lotta, L. A., Lopez, A., Li, D., Lattari, M., Lanche, R., Krasheninina, O., Khalid, S., Karalis, K., Jones, M. B., Hawes, A., Habegger, L., Gu, Z., Fuller, E. D., Forsythe, C., Ferreira, M. A. R., Eom, G., Economides, A., Deubler, A., De, T., Coppola, G., Cantor, M., Boutkov, B., Beechert, C., Baras, A., Balasubramanian, S., Bai, X., Abecasis, G., Zoellner, S., Zody, M., Zhu, X., Zhao, W., Zhao, S. X., Zhang, Y., Zekavat, S. M., Yu, K., Yang, I., Yanek, L., Xu, H., Wu, J., Wong, Q., Winterkorn, L., Wilson, J., Wilson, C., Williams, L. K., Williams, K., Willer, C., Wessel, J., Weiss, S. T., Weir, B., Weinstock, J., Weeks, D. E., Watt, J., Watson, K., Wang, J., Wang, H., Wang, F. F., Walts, A., Wallace, R., Walker, T., Vrieze, S., VandeHaar, P., Van Den Berg, D., Vaidya, D., Tsai, M., Tracy, R., Tong, C., Tiwari, H., Tishkoff, S., Tirschwell, D., Tinker, L., Threlkeld, M., Thornton, T. A., Telen, M., Sung, Y. J., Rao, D. C., Gu, C. C., Fulton, L., Dutcher, S. K. & de las Fuentes, L., Mar 2025, In: Nature Genetics. 57, 3, p. 548-562 15 p., e020163.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      21   Link opens in a new tab Scopus citations

    • Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia

      Brody, S. L., Pan, J., Huang, T., Xu, J., Xu, H., Koenitizer, J. R., Brennan, S. K., Nanjundappa, R., Saba, T. G., Rumman, N., Berical, A., Hawkins, F. J., Wang, X., Zhang, R., Mahjoub, M. R., Horani, A. & Dutcher, S. K., Jan 29 2025, In: Science translational medicine. 17, 783, eadp5173.

      Research output: Contribution to journal › Article › peer-review

      14   Link opens in a new tab Scopus citations
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