Birgitte Rode Diness

Birgitte Rode Diness

Clinical Associate Professor

Member of:

  • Clinical Genetics


Publication year:
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  1. Published

    A complex phenotype in a family with a pathogenic SOX3 missense variant

    Jelsig, A. M., Diness, Birgitte Rode, Kreiborg, Sven, Main, Katharina Maria, Larsen, V. A. & Hove, H., Mar 2018, In: European Journal of Medical Genetics. 61, 3, p. 168-172

    Research output: Contribution to journal › Journal article › Research › peer-review

  2. Published

    A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

    Schepers, D., Tortora, G., Morisaki, H., MacCarrick, G., Lindsay, M., Liang, D., Mehta, S. G., Hague, J., Verhagen, J., van de Laar, I., Wessels, M., Detisch, Y., van Haelst, M., Baas, A., Lichtenbelt, K., Braun, K., van der Linde, D., Roos-Hesselink, J., McGillivray, G., Meester, J. & 22 others, Maystadt, I., Coucke, P., El-Khoury, E., Parkash, S., Diness, Birgitte Rode, Risom, L., Scurr, I., Hilhorst-Hofstee, Y., Morisaki, T., Richer, J., Désir, J., Kempers, M., Rideout, A. L., Horne, G., Bennett, C., Rahikkala, E., Vandeweyer, G., Alaerts, M., Verstraeten, A., Dietz, H., Van Laer, L. & Loeys, B., 2018, In: Human Mutation. 39, 5, p. 621-634 14 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

    Luyckx, I., Bolar, N., Diness, Birgitte Rode, Hove, H. B., Verstraeten, A. & Loeys, B. L., Feb 2019, In: European Journal of Medical Genetics. 62, 2, p. 96 1 p.

    Research output: Contribution to journal › Comment/debate › Research › peer-review

  4. Published

    Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK

    Boelman, M. B., Hansen, Thomas van Overeem, Smith, M. N., Hammer-Hansen, S., Christensen, Alex Hørby & Diness, Birgitte Rode, 2024, In: American Journal of Medical Genetics, Part A. 194, 3, 6 p., e63458.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

    Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures

    Sølyst, S., Oksjoki, R., Farholt, S., Nielsen, D. G., Christensen, Alex Hørby, Fagerberg, C. R., Risom, L., Gregersen, P. A., Christensen, M. B., Rasmussen, T. B. & Diness, Birgitte Rode, 2022, In: Clinical Genetics. 102, 3, p. 191-200

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. Published

    Det danske screeningsprogram for hæmoglobinopatier

    Glenthøj, Andreas Birkedal, Samson, M., Toft, N., Diness, Birgitte Rode, Askj R, N., Vojdeman, F. J., Birgens, H., Sørensen, M. B. & Petersen, J., 18 Jan 2021, In: Ugeskrift for Laeger. 183, 3, 8 p., V07200536.

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Published

    Direct to consumer genetic testing in Denmark—public knowledge, use, and attitudes

    Gerdes, Anne-Marie Axø, Nicolaisen, L., Husum, E., Andersen, J. B., Gantzhorn, M. D., Roos, L. & Diness, Birgitte Rode, May 2021, In: European Journal of Human Genetics. 29, 5, p. 851-860 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  8. Published

    Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth

    Schönewolf-Greulich, B., Karstensen, H. G., Hjortshøj, T. D., Jørgensen, Finn Stener, Harder, K. M., Frevert, S., Hove, H. & Diness, Birgitte Rode, 2022, In: European Journal of Medical Genetics. 65, 10, 104590.

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. Published

    Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

    Diness, Birgitte Rode, Palmquist, R. N., Norling, R., Hove, H., Bundgård, Henning, Hertz, J. M., Kondziella, Daniel, Krieger, D., Dunø, M. & Grønborg, S., 2020, In: Journal of the Neurological Sciences. 415, 116897.

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. Published

    First reported adult patient with TARP syndrome: A case report

    Højland, A. T., Lolas, I., Okkels, H., Lautrup, C. K., Diness, Birgitte Rode, Petersen, M. B. & Nielsen, I. K., 2018, In: American Journal of Medical Genetics. Part A. 176, 12, p. 2915-2918 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

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