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Molecular and Medical Genetics

Organization profile

Organization profile

The Molecular and Medical Genetics (MMG) Department is an interdisciplinary group of faculty performing basic laboratory research, clinical research, teaching of both graduate and medical students, overseeing the operation of several clinical labs and providing expertise in the area of clinical genetics care.

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Collaborations and top research areas from the last five years

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  • Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

    Bonardi, C. M., Møller, R. S., Ruiz-Reig, N., Chai, G., Madsen, C. G., Bayat, A., Hammer, T. B., Fenger, C. D., Gardella, E., Gawlinski, P., Dawidziuk, M., Wiszniewski, W., Bekiesinska-Figatowska, M., Cabet, S., Rossi, M., Lesca, G., Gouy, E., Jepsen, B., Mieszczanek, T. S. & Sanchez Russo, R. & 8 others, Barr, E. E., Õunap, K., Ilves, P., Wojcik, M. H., Aittaleb, M., Brusgaard, K., Tissir, F. & Rubboli, G., Dec 1 2026, In: Nature communications. 17, 1, 862.

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

    Open Access
    2   Link opens in a new tab Scopus citations

  • Impact of the CYFIP2 R87C variant in a human neuronal model in vitro

    Zaboroski-Silva, I., da Silva Brandão, E., de Freitas Brenha, B., Landry, C., Carrara, J., Ferreira, R. S., Vaz, I. M., Jamur, V. R., Schaffer, A. E., Miranda, H. C. & Shigunov, P., Dec 1 2026, In: Scientific Reports. 16, 1, 13967.

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

    Open Access
    1   Link opens in a new tab Scopus citations

  • Clinical practice considerations for restarting pegvaliase in adults with phenylketonuria

    McNutt, M., Anderson, K. J., Andrews, A., Cooney, E., Murray, B. M., Tharp, M., Vucko, E., Wessenberg, L., Wilson, K., Wong, D., Hansen, J., Rose, S., Wardley, B. & Thomas, J. A., Sep 1 2026, In: Molecular Genetics and Metabolism Reports. 48, 101333.

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

    Open Access
View all 1645 Research outputs