Birgitte Rode Diness
Clinical Associate Professor
- E-pub ahead of print
Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort
Hammer-Hansen, S., Stoltze, U., Bartels, Emil Daniel, Hansen, Thomas van Overeem, Byrjalsen, A., Tybjærg-Hansen, Anne, Juul, K., Schmiegelow, Kjeld, Tfelt-Hansen, Jacob, Bundgård, Henning, Wadt, Karin Anna Wallentin & Diness, Birgitte Rode, 2024, (E-pub ahead of print) In: European Journal of Human Genetics. 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- Published
Prenatal genetic testing by late amniocentesis to guide delivery management in haemophilia carriers
Ingerslev, M. D., Langhoff-Roos, J., Soegaard, K., Funding, Eva & Diness, Birgitte Rode, 2017, In: Haemophilia. 23, 5, p. e466-e468Research output: Contribution to journal › Letter › Research › peer-review
- 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. 168-172Research output: Contribution to journal › Journal article › Research › peer-review
- Published
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark
Lildballe, D. L., Frederiksen, A. L., Schönewolf-Greulich, B., Brasch-Andersen, C., Lautrup, C. K., Karstensen, H. G., Pedersen, I. S., Sunde, Lone, Risom, L., Rasmussen, M., Bertelsen, M., Andersen, M. K., Rendtorff, N. D., Gregersen, P. A., Tørring, P. M., Hammer-Hansen, S., Boonen, S. E., Lindquist, Suzanne Granhøj, Hammer, T. B. & Diness, Birgitte Rode, 2023, In: European Journal of Medical Genetics. 66, 12, 5 p., 104872.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- Published
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families
McKenzie, F., Mina, K., Callewaert, B., Beyens, A., Dickinson, J. E., Jevon, G., Papadimitriou, J., Diness, Birgitte Rode, Steensberg, J. N., Ek, J. & Baynam, G., 2021, In: Clinical Genetics. 100, 2, p. 168-175Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2018, In: Human Mutation. 39, 5, p. 621-634 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- Published
Genetisk screening af kommende forældre
Smed, V. M., Petersen, Olav Bennike Bjørn, Gerdes, Anne-Marie Axø, Diness, Birgitte Rode & Roos, L. S., 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13, 9 p., V12200933.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 156582356
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108
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First reported adult patient with TARP syndrome: A case report
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
64
downloads
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
11
downloads
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth
Research output: Contribution to journal › Journal article › Research › peer-review
Published