Personal profile

Research interests

My current clinical research interests include clinical trials for new therapies for phenylketonuria (PKU) and Down syndrome. I am also interested in identification and delineation of genetic syndromes. I am involved with diagnosis and management of inborn errors of metabolism, birth defects, malformation syndromes, chromosomal disorders, Marfan syndrome and other connective tissue disorders.

Clinical interests

medical genetics, genetic disease, genetic counseling, inherited disorders, inborn errors of metabolism, phenylketonuria (PKU), birth defects, malformation syndromes, chromosomal disorders, metabolic disorders,Marfan syndrome, connective tissue disorders, overgrowth disorders, craniofacial disorders, pediatric pathology

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Collaborations and top research areas from the last five years

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  • Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

    Patterson, V., Ullah, F., Bryant, L., Griffin, J. N., Sidhu, A., Saliganan, S., Blaile, M., Saenz, M. S., Smith, R., Ellingwood, S., Grange, D. K., Hu, X., Mireguli, M., Luo, Y., Shen, Y., Mulhern, M., Zackai, E., Ritter, A., Izumi, K., Hoefele, J., & 31 othersWagner, M., Riedhammer, K. M., Seitz, B., Robin, N. H., Goodloe, D., Mignot, C., Keren, B., Cox, H., Jarvis, J., Hempel, M., Gibson, C. F., Mau-Them, F. T., Vitobello, A., Bruel, A. L., Sorlin, A., Mehta, S., Raymond, F. L., Gilmore, K., Powell, B. C., Weck, K., Li, C., Vulto-Van Silfhout, A. T., Giacomini, T., Mancardi, M. M., Accogli, A., Salpietro, V., Zara, F., Vora, N. L., Davis, E. E., Burdine, R. & Bhoj, E., Apr 2023, In: Science Advances. 9, 17, eade0631.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

    Accogli, A., Lin, S. J., Severino, M., Kim, S. H., Huang, K., Rocca, C., Landsverk, M., Zaki, M. S., Al-Maawali, A., Srinivasan, V. M., Al-Thihli, K., Schaefer, G. B., Davis, M., Tonduti, D., Doneda, C., Marten, L. M., Mühlhausen, C., Gomez, M., Lamantea, E., Mena, R., & 39 othersNizon, M., Procaccio, V., Begtrup, A., Telegrafi, A., Cui, H., Schulz, H. L., Mohr, J., Biskup, S., Loos, M. A., Aráoz, H. V., Salpietro, V., Keppen, L. D., Chitre, M., Petree, C., Raymond, L., Vogt, J., Sawyer, L. B., Basinger, A. A., Pedersen, S. V., Pearson, T. S., Grange, D. K., Lingappa, L., McDunnah, P., Horvath, R., Cognè, B., Isidor, B., Hahn, A., Gripp, K. W., Jafarnejad, S. M., Østergaard, E., Prada, C. E., Ghezzi, D., Gowda, V. K., Taylor, R. W., Sonenberg, N., Houlden, H., Sissler, M., Varshney, G. K. & Maroofian, R., Nov 2023, In: Genetics in Medicine. 25, 11, 100938.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • Effects of TP63 mutations on keratinocyte adhesion and migration

    Salois, M. N., Gugger, J. A., Webb, S., Sheldon, C. E., Parraga, S. P., Lewitt, G. M., Grange, D. K., Koch, P. J. & Koster, M. I., Sep 2023, In: Experimental Dermatology. 32, 9, p. 1575-1581 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial

    Vockley, J., Sondheimer, N., Puurunen, M., Diaz, G. A., Ginevic, I., Grange, D. K., Harding, C., Northrup, H., Phillips, J. A., Searle, S., Thomas, J. A., Zori, R., Denney, W. S., Ernst, S. L., Humphreys, K., McWhorter, N., Kurtz, C. & Brennan, A. M., 2023, (Accepted/In press) In: Nature Metabolism.

    Research output: Contribution to journalArticlepeer-review

    6 Scopus citations
  • Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

    Wojcik, M. H., Srivastava, S., Agrawal, P. B., Balci, T. B., Callewaert, B., Calvo, P. L., Carli, D., Caudle, M., Colaiacovo, S., Cross, L., Demetriou, K., Drazba, K., Dutra-Clarke, M., Edwards, M., Genetti, C. A., Grange, D. K., Hickey, S. E., Isidor, B., Küry, S., Lachman, H. M., & 20 othersLavillaureix, A., Lyons, M. J., Marcelis, C., Marco, E. J., Martinez-Agosto, J. A., Nowak, C., Pizzol, A., Planes, M., Prijoles, E. J., Riberi, E., Rush, E. T., Russell, B. E., Sachdev, R., Schmalz, B., Shears, D., Stevenson, D. A., Wilson, K., Jansen, S., de Vries, B. B. A. & Curry, C. J., Jul 2023, In: American Journal of Medical Genetics, Part A. 191, 7, p. 1900-1910 11 p.

    Research output: Contribution to journalArticlepeer-review