Dusica Babovic-Vuksanovic, MD

  • 2918 Citations
  • 31 Scopus h-Index
1989 …2020

Research output per year

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Research Output

Audit of Gastrointestinal Manifestations in Patients with Loeys–Dietz Syndrome and Vascular Ehlers–Danlos Syndrome

Wang, X. J., Babameto, M., Babovic-Vuksanovic, D., Bowen, J. M. & Camilleri, M., Jan 1 2020, (Accepted/In press) In : Digestive diseases and sciences.

Research output: Contribution to journalArticle

  • Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

    Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M. & 88 others, D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pinna, V., Pivnick, E. K., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2020, In : Human mutation. 41, 1, p. 299-315 17 p.

    Research output: Contribution to journalArticle

    Open Access
  • 4 Scopus citations

    Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

    Lennox, A. L., Hoye, M. L., Jiang, R., Johnson-Kerner, B. L., Suit, L. A., Venkataramanan, S., Sheehan, C. J., Alsina, F. C., Fregeau, B., Aldinger, K. A., Moey, C., Lobach, I., Afenjar, A., Babovic-Vuksanovic, D., Bézieau, S., Blackburn, P. R., Bunt, J., Burglen, L., Campeau, P. M., Charles, P. & 34 others, Chung, B. H. Y., Cogné, B., Curry, C., D'Agostino, M. D., Di Donato, N., Faivre, L., Héron, D., Innes, A. M., Isidor, B., Keren, B., Kimball, A., Klee, E. W., Kuentz, P., Küry, S., Martin-Coignard, D., Mirzaa, G., Mignot, C., Miyake, N., Matsumoto, N., Fujita, A., Nava, C., Nizon, M., Rodriguez, D., Blok, L. S., Thauvin-Robinet, C., Thevenon, J., Vincent, M., Ziegler, A., Dobyns, W., Richards, L. J., Barkovich, A. J., Floor, S. N., Silver, D. L. & Sherr, E. H., May 6 2020, In : Neuron. 106, 3, p. 404-420.e8

    Research output: Contribution to journalArticle

  • 4 Scopus citations

    SPECC1L regulates palate development downstream of IRF6

    Hall, E. G., Wenger, L. W., Wilson, N. R., Undurty-Akella, S. S., Standley, J., Augustine-Akpan, E. A., Kousa, Y. A., Acevedo, D. S., Goering, J. P., Pitstick, L., Natsume, N., Paroya, S. M., Busch, T. D., Ito, M., Mori, A., Imura, H., Schultz-Rogers, L. E., Klee, E. W., Babovic-Vuksanovic, D., Kroc, S. A. & 8 others, Adeyemo, W. L., Eshete, M. A., Bjork, B. C., Suzuki, S., Murray, J. C., Schutte, B. C., Butali, A. & Saadi, I., Mar 27 2020, In : Human molecular genetics. 29, 5, p. 845-858 14 p.

    Research output: Contribution to journalArticle

  • An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type i

    Zepeda-Mendoza, C. J., Cousin, M. A., Basu, S., Jenkinson, G., Oliver, G., Pittock, S. T., Baughn, L. B., Klee, E. W. & Babovic-Vuksanovic, D., Jan 1 2019, In : Cold Spring Harbor Molecular Case Studies. 5, 6, a004655.

    Research output: Contribution to journalArticle

    Open Access