Birgitte Rode Diness

2024

Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort

Hammer-Hansen, S., Stoltze, U., Bartels, E., Hansen, T. V. O., Byrjalsen, A., Tybjærg-Hansen, A., Juul, K., Schmiegelow, K., Tfelt, J., Bundgaard, H., Wadt, K. & Diness, B. R., Jul 2024, In: European journal of human genetics : EJHG. 32, 7, p. 846-857 12 p.

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

1 Citation (Scopus)

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

Boelman, M. B., Hansen, T. V. O., Smith, M. N., Hammer-Hansen, S., Christensen, A. H. & Diness, B. R., 2024, In: American Journal of Medical Genetics. Part A. 194, 3, e63458.

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

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis

Altunoglu, U., Palencia-Campos, A., Güneş, N., Turgut, G. T., Nevado, J., Lapunzina, P., Valencia, M., Iturrate, A., Otaify, G., Elhossini, R., Ashour, A., K Amin, A., Elnahas, R. F., Fernandez-Nuñez, E., Flores, C.-L., Arias, P., Tenorio, J., Chamorro Fernández, C. I., Güven, Y. & Özsu, E. & 13 others, Eklioğlu, B. S., Ibarra-Ramirez, M., Diness, B. R., Burnyte, B., Ajmi, H., Yüksel, Z., Yıldırım, R., Ünal, E., Abdalla, E., Aglan, M., Kayserili, H., Tuysuz, B. & Ruiz-Pérez, V., 20 Jun 2024, In: Journal of Medical Genetics. 61, 7, p. 633-644 12 p., 23109546.

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

2023

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, L., 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, S. G., Hammer, T. B. & Diness, B. R., Dec 2023, In: European Journal of Medical Genetics. 66, 12, p. 1-5 5 p., 104872.

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

1 Citation (Scopus)

2022

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, A. H., Fagerberg, C. R., Risom, L., Gregersen, P. A., Christensen, M. B., Rasmussen, T. B. & Diness, B. R., Sept 2022, In: Clinical Genetics. 102, 3, p. 191-200 10 p.

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

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

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

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

Hjertesygdomme

Translated title of the contribution: Heart diseasesFrederiksen, A. L. & Diness, B. R., 2022, Medicinsk genetik. Sunde, L. & Østergaard, E. (eds.). 3 ed. FADL's Forlag, p. 262-274 12 p.

Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Communication

2021

Det danske screeningsprogram for hæmoglobinopatier

Translated title of the contribution: The Danish screening programme for haemoglobinopathies: Det danske screeningsprogram for hæmoglobinopatierGlenthøj, A., Samson, M., Toft, N., Diness, B. R., Askj R, N., Vojdeman, F. J., Birgens, H., Sørensen, M. B. & Petersen, J., 18 Jan 2021, In: Ugeskrift for Laeger. 183, 3

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

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

Gerdes, A.-M., Nicolaisen, L., Husum, E., Andersen, J. B., Gantzhorn, M. D., Roos, L. & Diness, B. R., May 2021, In: European journal of human genetics : EJHG. 29, 5, p. 851-860

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

9 Citations (Scopus)

Genetisk screening af adopterede raske individer

Translated title of the contribution: Genetic screening of adopted individualsWriedt, T. R., Gerdes, A.-M. A., Roos, L. K., Hammer-Hansen, S., Christensen, M. B. & Diness, B. R., 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13

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

Genetisk screening af kommende forældre

Translated title of the contribution: Genetic screening of prospective parentsSmed, V. M., Petersen, O. B. B., Gerdes, A.-M. A., Diness, B. R. & Roos, L. S., 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13

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

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

Van Gucht, I., Krebsova, A., Diness, B. R., Laga, S., Adlam, D., Kempers, M., Samani, N. J., Webb, T. R., Baranowska, A. A., Van Den Heuvel, L., Perik, M., Luyckx, I., Peeters, N., Votypka, P., Macek, M., Meester, J., Van Laer, L., Verstraeten, A. & Loeys, B. L., 1 Jul 2021, In: International Journal of Molecular Sciences. 22, 13, 7111.

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

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, B. R., Steensberg, J. N., Ek, J. & Baynam, G., Aug 2021, In: Clinical Genetics. 100, 2, p. 168-175 8 p.

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

2 Citations (Scopus)

2020

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

Diness, B. R., Palmquist, R. N., Norling, R., Hove, H., Bundgaard, H., Hertz, J. M., Kondziella, D., Krieger, D., Dunø, M. & Grønborg, S., 15 Aug 2020, In: Journal of the Neurological Sciences. 415, p. 116897

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

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

Graversen, L., Handrup, M. M., Irving, M., Hove, H., Diness, B. R., Risom, L., Svaneby, D., Aagaard, M. M., Vogel, I., Gjørup, H., Davidsen, M., Hellfritzsch, M. B., Lauridsen, E. & Gregersen, P. A., Feb 2020, In: European Journal of Medical Genetics. 63, 2, p. 103650

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

6 Citations (Scopus)

Udredning og opfølgning af familiær aneurisme sygdom

Diness, B. R., Rasmussen, M., Tørring, P., Graversen, L., Jelsig, A. M., Elset, S. E., Lindquist, S. G. & Hammer-Hansen, S., 28 May 2020

Research output: Other contribution › Communication

2019

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

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

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

5 Citations (Scopus)

2018

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

Jelsig, A. M., Diness, B. R., Kreiborg, S., Main, K. M., Larsen, V. A. & Hove, H., 2018, In: European Journal of Medical Genetics. 61, 3, p. 168-72

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

12 Citations (Scopus)

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, B., 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., May 2018, In: Human Mutation. 39, 5, p. 621-634 14 p.

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

119 Citations (Scopus)

First reported adult patient with TARP syndrome: A case report

Højland, A. T., Lolas, I., Okkels, H., Lautrup, C. K., Diness, B. R., Petersen, M. B. & Nielsen, I. K., Dec 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

14 Citations (Scopus)

Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41

Diness, B. R., Risom, L., Frandsen, T. L., Hansen, B., Andersen, M. K., Schmiegelow, K. & Wadt, K. A. W., 2018, In: Genes, Chromosomes & Cancer. 57, 12, p. 670-674

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

14 Citations (Scopus)

2017

Prenatal genetic testing by late amniocentesis to guide delivery management in haemophilia carriers

Ingerslev, M. D., Langhoff-Roos, J., Soegaard, K., Funding, E. & Diness, B. R., 1 Sept 2017, In: Haemophilia. 23, 5, p. 466-468

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

3 Citations (Scopus)

Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark

Diness, B. R., Overbeck, G., Hjortshøj, T. D., Hammer, T. B., Timshel, S., Sørensen, E. & McAllister, M., Oct 2017, In: Journal of Genetic Counseling. 26, 5, p. 1080-1089 10 p.

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

21 Citations (Scopus)

2014

Genomet i kardiologien

Translated title of the contribution: The genome and cardiology.Bundgaard, H., Diness, B. R., Tfelt-Hansen, J., Henriksen, F. L., Eschen, O., Skovby, F., Havndrup, O., Jensen, H. K. & Tybjærg-Hansen, A., 10 Nov 2014, In: Ugeskrift for læger [online]. 176, 46, p. 2168-72. V06140376

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

Grundig familieanamnese og et multidisciplinært samarbejde er vigtigt ved udredning af årsager til pludselig hjertedød

Translated title of the contribution: Thorough family history and a multidisciplinary approach are important in sudden cardiac deaths.Sørensen, C., Diness, B. R., Hansen, S. H., Bundgaard, H. & Steensberg, J., 10 Feb 2014, In: Ugeskrift for læger [online]. 176, 7A, p. V08130505

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

Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype

Grønskov, K., Diness, B., Stahlhut, M., Zilmer, M., Tümer, Z., Bisgaard, A.-M. & Brøndum-Nielsen, K., 15 Apr 2014, In: European Journal of Medical Genetics. 57, 6, p. 284-7 4 p.

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

2 Citations (Scopus)

Mulige problemer ved tegning af forsikring bekymrer patienter, der henvises til genetisk rådgivning

Translated title of the contribution: Potential problems in obtaining insurance concern patients referred for genetic counseling.Diness, B. R. & Juhl, L. B., 24 Mar 2014, In: Ugeskrift for læger [online]. 176, 13

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

1 Citation (Scopus)

Præsymptomatisk genetisk testning af børn bør kun foretages ved mulighed for intervention

Translated title of the contribution: Presymptomatic genetic testing in minors should only be performed when intervention is possible.Andersen, J. B., Diness, B. R. & Brøndum-Nielsen, K., 22 Dec 2014, In: Ugeskrift for læger [online]. 176, 52

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

2013

Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing

Jensen, M. K., Havndrup, O., Christiansen, M., Andersen, P. S., Diness, B., Axelsson, A., Skovby, F., Køber, L. & Bundgaard, H., 1 Jan 2013, In: Circulation (Baltimore). 127, 1, p. 48-54 7 p.

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

103 Citations (Scopus)

2012

Attitudes towards abortion among trainees in obstetrics/gynecology and clinical genetics

Ingerslev, M. D., Diness, B. R. & Norup, M. S., 2012, In: Acta Obstetricia et Gynecologica Scandinavica. 91, 2, p. 256-9 4 p.

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

4 Citations (Scopus)

Severe postpartum haemorrhage and mode of delivery: a retrospective cohort study

Holm, C., Langhoff-Roos, J., Petersen, K. B., Nørgaard, A. & Diness, B. R., 2012, In: B J O G. 119, 5, p. 596-604 9 p.

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

62 Citations (Scopus)

Birgitte Rode Diness

Research output

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