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Dorothy Grange

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Dorothy Grange

Professor of Pediatrics

 https://orcid.org/0000-0001-7425-6322
    • 8277
      Citations
    1977 …2026

    Research activity per year

    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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    • Consensus Guidance for Screening, Classification, and Treatment of Retinopathy Associated with Incontinentia Pigmenti

      Moon, J. Y., Abbott, B., Berrocal, A., Chen, C., Chen, X., Ferrone, P., Fete, M., Goldberg, M. F., Grange, D. K., Han, I., Hartnett, M. E., Henderson, R. H., Nudleman, E., Ozdek, S., Sather, R. N., Somani, N., Wilson, R., Montezuma, S. R. & Campbell, J. P., Aug 2026, In: Ophthalmology Science. 6, 8, 101293.

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

      Open Access

    • Report From the International Conference on Incontinentia Pigmenti: Translating Discovery to Therapy

      Wilson, R., Somani, N., Arias, N., Berrocal, A., Chen, C., Chen, X., Cole, E., Ehrich, P., Faupel, T. C., Ferrone, P., Fete, T., Fete, M., Fusco, F., Goldberg, M., Grange, D. K., Han, I., Hartnett, M. E., King, A., Monnet, J. & Nudleman, E. & 10 others, Parraga, S., Rosain, J., Salois, M., Schwaninger, M., Spinosa, E., Thangarajan, S., Van Otterloo, E., Wright, T., Montezuma, S. & Campbell, J. P., 2026, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

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

      1   Link opens in a new tab Scopus citations

    • The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

      Kleinendorst, L., Molegraaf, M. N. S., Grange, D. K., Rinkel, R. N. P. M. & van Haelst, M. M., May 2026, In: American Journal of Medical Genetics, Part A. 200, 5, p. 1062-1068 7 p.

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

      Open Access
      1   Link opens in a new tab Scopus citations

    • A clinical and genotype-phenotype analysis of MACF1 variants

      Dekker, J., Schot, R., Aldinger, K. A., Everman, D. B., Washington, C., Jones, J. R., Sullivan, J. A., Spillmann, R. C., Shashi, V., Vitobello, A., Denommé-Pichon, A. S., Mosca-Boidron, A. L., Perrin, L., Auvin, S., Zaki, M. S., Gleeson, J. G., Meave, N., Wallace, C., Nambot, S. & Delanne, J. & 70 others, Ruggiero, S. M., Helbig, I., Fitzgerald, M. P., Leventer, R. J., Grange, D. K., Argilli, E., Sherr, E. H., Prakash, S., Neilson, D. E., Nicita, F., Sferra, A., Bertini, E. S., Aiello, C., Brockmann, K., Kuranov, A. B., Kaulfuss, S., Basit, S., Alluqmani, M., Almatrafi, A., Friedman, J. M., Guimond, C., Mohammed, F., Sharma, P., Goel, D., Wirth, T., Anheim, M., Bahena, P., Koparir, A., Kolokotronis, K., Vona, B., Haaf, T., Kunstmann, E., Maroofian, R., Sczakiel, H. L., Boschann, F., Misra-Isrie, M., Louie, R. J., Stolerman, E. S., Sanchez-Lara, P. A., Mergler, S., Oegema, R., Zarate, Y. A., Kariminejad, A., Tajsharghi, H., Zeidler, S., Kievit, A. J. A., Bouman, A., Cappuccio, G., Brunetti-Pierri, N., Stuurman, K. E., Swols, D. M., Tekin, M., Upadia, J., Martin, D. M., Craven, D., Hiatt, S. M., van de Pol, L. A., D'Arco, F., Margot, H., Wilke, M., Yousefi, S., Barakat, T. S., van Veghel-Plandsoen, M. M., Aronica, E., Anink, J., Rogers, S. L., Slep, K. C., Doherty, D., Dobyns, W. B. & Mancini, G. M. S., Oct 2 2025, In: American journal of human genetics. 112, 10, p. 2363-2380 18 p.

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

      Open Access

    • Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease

      Tu, S. C., Khan, M., Wolfe, K., Kulkarni, S. S., Toolan, E. & Grange, D. K., Jan 2025, In: JIMD Reports. 66, 1, e12460.

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

      Open Access
      4   Link opens in a new tab Scopus citations
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