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Internal Medicine - Human Genetics

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  • Identification Methods, Patient Activation, and Cascade Testing for FH: IMPACT-FH

    Morales Reyes, A. A. (PI), Jones, L. K. (CoPI) & Sturm, A. C. (CoPI)

    NATIONAL HEART, LUNG, AND BLOOD INSTITUTE

    08/15/1907/31/26

    Project: Research

  • Cancer Center Support Grant

    Pollock, R. E. (PI), de la Chapelle, A. (CoPI), Alder, H. (CoPI), Alinari, L. (CoPI), Young, A. A. P. (CoPI), Toland, A. E. (CoPI), Baker, S. D. (CoPI), Andersen, B. L. (CoPI), Basso, K. B. (CoPI), Bennett, C. E. (CoPI), Peterson, B. B. (CoPI), Burry, R. W. (CoPI), Byrd, J. C. (CoPI), Ramaswamy, B. B. (CoPI), Caligiuri, M. A. (CoPI), Carbone, D. P. (CoPI), Carson, W. E. (CoPI), Chalmers, J. J. (CoPI), Chan, K.K.-H. (CoPI), Shapiro, C. L. (CoPI), Plass, C. (CoPI), Bloomfield, C. D. (CoPI), Clinton, S. K. (CoPI), Cohn, D. E. (CoPI), Coombes, K. (CoPI), Croce, C. M. (CoPI), Yohn, D. S. (CoPI), Devine, S. M. (CoPI), Kusewitt, D. F. (CoPI), Gosky, D. M. (CoPI), Paskett, E. D. (CoPI), Mardis, E. (CoPI), Fernandez, S. A. (CoPI), Ruymann, F. B. (CoPI), Freitas, M. A. (CoPI), Otterson, G. A. (CoPI), Doll, H. L. (CoPI), Jarjoura, D. (CoPI), Jewell, S. D. (CoPI), Kirschner, L. S. (CoPI), La Perle, K. K. M. (CoPI), Kuppusamy, P. (CoPI), Powell, K. K. A. (CoPI), Lucas, D. M. (CoPI), Marcucci, G. (CoPI), Ostrowski, M. C. (CoPI), Naughton, M. (CoPI), Tsai, M.-D. M. (CoPI), Mishra, P. K. (CoPI), Ringel, M. M. D. (CoPI), Phelps, M. M. A. (CoPI), Heerema, N. A. (CoPI), Parvin, J. (CoPI), Stoodley, P. (CoPI), Powell, K. A. (CoPI), Reiter, P. L. (CoPI), Robinson, J. M. (CoPI), Raval, R. R. R. (CoPI), Garzon, R. R. (CoPI), Baiocchi, R. R. A. (CoPI), Schaaf, L. J. (CoPI), Schwartz, S. J. (CoPI), Single, N. A. (CoPI), Slater, M. D. (CoPI), Lemeshow, S. A. (CoPI), Symer, D. E. (CoPI), Farag, S. S. S. (CoPI), Thomas, J. P. (CoPI), Li, Z. Z. (CoPI), Brueggemeier, R. W. (CoPI), Bruggemeier, R. W. (CoPI), Cschuller, D. (CoPI), Gams, R. (CoPI), Milo, G. E. (CoPI), Mull, L. (CoPI), O'dorisio, S. M. (CoPI), Schuller, D. E. (CoPI), Staubus, A. E. (CoPI), Trewyn, R. W. (CoPI) & Young, D. C. (CoPI)

    National Cancer Institute

    07/1/8503/31/27

    Project: Research

  • Association of germline variants with KRAS-mutation status in colorectal cancer

    Tjader, N. P., Ramroop, J., Gandhi, T., Dauch, C., Meadows, O., Stevens, P., Pearlman, R., Doll, H. L., Aglago, E. K., Berndt, S. I., Bloomer, A., Brenner, H., Buchanan, D. D., Campbell, P. T., Cao, Y., Chan, A. T., Cheng, I., Dimou, N., Drew, D. A. & French, A. J. & 36 others, Georgeson, P., Giannakis, M., Giles, G. G., Gomez, M., Gruber, S. B., Hoffmeister, M., Huang, W. Y., Hullar, M. A. J., Huyghe, J. R., Loroña, N., Moreno, V., Newton, C. C., Nowak, J. A., Obón-Santacana, M., Ogino, S., Pellatt, A., Peoples, A. R., Permuth, J. B., Schmit, S. L., Schoen, R. E., Siegel, E. M., Steinfelder, R. S., Sun, W., Teer, J. K., Thomas, C. E., Trinh, Q. M., Tsilidis, K., Ugai, T., Um, C. Y., Van Guelpen, B., Zaidi, S. H., Figueiredo, J., Peters, U., Phipps, A. I., McElroy, J. P. & Toland, A. E., Dec 2026, In: Scientific Reports. 16, 1, 8839.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • A study of patient recall and comprehension of genetic testing results in amyotrophic lateral sclerosis (ALS)

    Tomlinson, J., Roberson, E., Klee, V., Ma, J. & Roggenbuck, J., 2026, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 27, 3-4, p. 363-369 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Biallelic germline MBD4 mutations predispose to colorectal polyposis, hypermutated AML, and schwannomas

    Cooper, J., Stewart, B. L., Bokovitz, L., Carraway, H., Mukherjee, S., Liska, D., Vasu, S., Lesmana, H. & Blachly, J. S., Jun 2026, In: Familial Cancer. 25, 2, 50.

    Research output: Contribution to journalArticlepeer-review

    Open Access