Caroline Maria Rossing

2025

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer

Berg, T., Ahlborn, L., Jensen, M.-B., Knoop, A. S., Ejlertsen, B. & Rossing, M., May 2025, In: Neoplasia (New York, N.Y.). 63, 101162.

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

Copenhagen Prospective Personalized Oncology (CoPPO) - Impact of comprehensive genomic profiling in more than 2000 patients in a Phase I setting

Belcaid, L., Højgaard, M., Tuxen, I., Spanggaard, I., Lassen, U., Robinson, L., Rossing, M., Bagger, F., Ahlborn, L. B., Schmidt, A. Y., Hasselby, J. P., Santoni-Rugiu, E., Nielsen, F. C., Yde, C. W. & Rohrberg, K., 15 Apr 2025, (E-pub ahead of print) In: Annals of Oncology.

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

1 Citation (Scopus)

G6PC3 promotes genome maintenance and is a candidate mammary tumor suppressor

Li, X., Rossing, M., Moisés da Silva, A., Bose, M., Gudjónsson, T., Benada, J., Thatte, J., Johansen, J. V., Börcsök, J., van der Gulden, H., Song, J.-Y., Menezes, R., Tajik, A., Sena, L., Szallasi, Z., Frödin, M., Jonkers, J., Nielsen, F. C. & Sørensen, C. S., 9 Jun 2025, In: JCI Insight. 10, 11, e186747.

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

Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000

Kostov, A. M., Jensen, M.-B., Ejlertsen, B., Thomassen, M., Rossing, C. M., Pedersen, I. S., Petersen, A. H., Christensen, L. L., Wadt, K. A. W. & Lænkholm, A.-V., 28 Jan 2025, In: Acta oncologica (Stockholm, Sweden). 64, p. 147-155 9 p.

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

1 Citation (Scopus)

HRD status variation in consecutive tumour biopsies in a pan-cancer cohort: a descriptive single-center study including patients from the Phase 1 Unit, Copenhagen University Hospital, Rigshospitalet

Britton, R. D., Alosi, D., Robinson, L., Buhl, I. K., Spanggaard, I., Højgaard, M., Kjeldsen, M. K., Rossing, M., Lassen, U. & Rohrberg, K. S., 20 May 2025, (E-pub ahead of print) In: Cancer genetics. 296-297, p. 1-8 8 p.

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

Nuclear N-WASP Induces Actin Polymerization in the Nucleus with Cortactin as an Essential Factor

Jiang, X., Mohapatra, P., Rossing, M., Zheng, W., Zbodakova, O., Thatte, J. V., Sørensen, C. S., Le Phan, T. H. & Brakebusch, C., 6 Jan 2025, In: Cells. 14, 1, 59.

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

Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects

Bose, M., Singh, M. I., Frödin, M., Ejlertsen, B., Sørensen, C. S. & Rossing, M., 15 Apr 2025, (E-pub ahead of print) In: The Journal of clinical investigation. 135, 12, e181879.

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

RET C611Y Germline Variant in Multiple Endocrine Neoplasia Type 2A in Denmark 1930-2021: A Nationwide Study

Hansen, A. W., Vestergaard, P., Poulsen, M. M., Rasmussen, Å. K., Feldt-Rasmussen, U., Madsen, M., Næraa, R. W., Hansen, D., Main, K., Pedersen, H. B., Londero, S. C., Rolighed, L., Hahn, C. H., Rask, K. B., Maare, C., Nielsen, H. H., Gaustadnes, M., Rossing, M., Hermann, P. & Mathiesen, J. S. & 1 others, Danish Thyroid Cancer Group (DATHYRCA), 23 Jan 2025, In: Cancers. 17, 3, 374.

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

1 Citation (Scopus)

The class II myosin MYH4 safeguards genome integrity and suppresses tumor progression

Thatte, J., Moisés da Silva, A., Börcsök, J., Gudjónsson, T., Benada, J., Li, X., Bose, M., van der Gulden, H., Song, J.-Y., Menezes, R., Martín-Doncel, E., Toledo, L., Petrosius, V., Brakebusch, C., Jonkers, J., Nielsen, F. C., Rossing, M. & Sørensen, C. S., 2 Jun 2025, In: The Journal of clinical investigation. 135, 11, e188165.

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

Timely germline BRCA testing after invasive breast cancer promotes contralateral risk-reducing mastectomy and improves survival: an observational retrospective study

Kostov, A. M., Jensen, M.-B., Ejlertsen, B., Thomassen, M., Rossing, M., Pedersen, I. S., Petersen, A. H., Christensen, L. L., Wadt, K. A. W., Berrocal-Almanza, L. C., Miranda, M. & Lænkholm, A.-V., Jul 2025, In: Breast Cancer Research and Treatment. 212, 2, p. 309-323 15 p.

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

2024

Assessing expression patterns of PTGR1, a potential biomarker for acylfulven sensitivity in urothelial carcinoma

Stormoen, D. R., Lehn, S., Mouw, K. W., Szallasi, Z., Melchior, L. C., Dohn, L. H., Börcsok, J., Rossing, M., Toft, B. G. & Pappot, H., 10 Nov 2024, In: Scientific Reports. 14, 1, 27448.

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

Beyond HRD status: Unraveling Genetic Variants Impacting PARP Inhibitor Sensitivity in Advanced Ovarian Cancer

Kjeldsen, M. K., Jørgensen, M., Grønseth, D. S. B., Schønemann-Lund, M., Nyvang, G.-B., Haslund, C. A., Knudsen, A. O., Motavaf, A. K., Malander, S., Anttila, M., Lindahl, G., Mäenpää, J., Dimoula, M., Werner, T. L., Iversen, T. Z., Hietanen, S., Fokdal, L., Dahlstrand, H., Bjorge, L. & Birrer, M. J. & 2 others, Mirza, M. R. & Rossing, M., 1 Dec 2024, In: Cancer research communications. 4, 12, p. 3190-3200 11 p.

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

Building flexible and robust analysis frameworks for molecular subtyping of cancers

Pedersen, C. B., Campos, B., Rene, L., Wegener, H. S., Krishnan, N. M., Panda, B., Vitting-Seerup, K., Rossing, M., Bagger, F. O. & Olsen, L. R., Mar 2024, In: Molecular Oncology. 18, 3, p. 606-619 14 p.

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

Combining Homologous Recombination-Deficient Testing and Functional RAD51 Analysis Enhances the Prediction of Poly(ADP-Ribose) Polymerase Inhibitor Sensitivity

Korsholm, L. M., Kjeldsen, M., Perino, L., Mariani, L., Nyvang, G.-B., Kristensen, E., Bagger, F. O., Mirza, M. R. & Rossing, M., Feb 2024, In: JCO Precision Oncology. 8, e2300483.

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

9 Citations (Scopus)

Consensus on drivers of maintenance treatment choice and patterns of care in advanced ovarian cancer

Perez-Fidalgo, A., Schmalfeldt, B., George, A., Gourley, C., Pignata, S., Lorusso, D., Barretina-Ginesta, M. P., Romero, I., Grimm, C., Van Gorp, T., Rossing, M., Collins, D. C., Fernebro, J., Bjørge, L., Leary, A., de la Motte Rouge, T., Harter, P., Kurzeder, C., Savva-Bordalo, J. & You, B., 23 Oct 2024, (E-pub ahead of print) In: International journal of gynecological cancer : official journal of the International Gynecological Cancer Society. 1 10.

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

Dahean: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patients

Glenthøj, A., Rasmussen, A. Ø., Bendtsen, S. K., Hasle, H., Hoffmann, M., Rieneck, K., Dziegiel, M. H., Sjö, L. D., Frederiksen, H., Hansen, D. L., Fassi, D. E., Rathe, M., Jensen, P.-D. M., Winther-Larsen, A., Nielsen, C., Olsen, M., Toft, N., Lorenzen, M. O. B., Jensen, L. H. & Gudbrandsdottir, S. & 4 others, Helby, J., Rossing, M., van Wijk, R. & Petersen, J., 31 Jul 2024, In: Orphanet Journal of Rare Diseases. 19, 1, p. 284 284.

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

Development and Methodological Validation of a Modified Staging System for de Novo Metastatic Breast Cancer

Berg, T., Jensen, M.-B., Rossing, M., Bechmann, T., Donskov, F., Knoop, A. S. & Ejlertsen, B., 4 Mar 2024, In: JAMA network open. 7, 3, p. e242174

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

2 Citations (Scopus)

Implementing MyChoice® CDx HRD testing for the Nordics: lessons from 2021 to 2023

Korsholm, L. M., Broecker, V., Mirza, M. R. & Rossing, M., 14 Mar 2024, In: Acta Oncologica. 63, p. 70-75 6 p.

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

Incidence and survival of primary metastatic breast cancer in Denmark; implication of breast cancer screening, classification, and staging practice

Berg, T., Jensen, M.-B., Rossing, M., Axelsen, C. T., Kümler, I., Søndergaard, L., Vogsen, M., Knoop, A. S. & Ejlertsen, B., 6 May 2024, In: Acta Oncologica. 63, p. 277-287 11 p.

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

Low vitamin C status and hypermobility-related disorders in patients with bleeding disorder of unknown cause

Leinøe, E., Fridriksdottir, H., Rasmussen, A. Ø., Funding, E., Sørensen, A. L. T., Kampmann, P., Lykkesfeldt, J. & Rossing, M., Nov 2024, In: Haemophilia Online. 30, 6, p. 1366-1372 7 p.

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

Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

Block, I., Mateu-Regué, À., Do, T. T. N., Miceikaite, I., Sdogati, D., Larsen, M. J., Hao, Q., Nielsen, H. R., Boonen, S. E., Skytte, A.-B., Jensen, U. B., Høffding, L. K., De Nicolo, A., Viel, A., Tudini, E., Parsons, M. T., Hansen, T. V. O., Rossing, M., Kruse, T. A. & Spurdle, A. B. & 1 others, Thomassen, M., 9 Jan 2024, In: Breast Cancer Research. 26, 1, 6.

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

1 Citation (Scopus)

Molecular subtyping improves breast cancer diagnosis in the Copenhagen Breast Cancer Genomics Study

Berg, T., Jensen, M.-B., Celik, A., Talman, M.-L., Misiakou, M. A., Knoop, A. S., Nielsen, F. C., Ejlertsen, B. & Rossing, M., 8 Apr 2024, In: JCI Insight. 9, 7, e178114.

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

1 Citation (Scopus)

Similar genetic profile in early and late stage urothelial tract cancer

Stormoen, D. R., Rohrberg, K. S., Mouw, K. W., Ørum, K., Szallasi, Z., Rossing, M., Bagger, F. O. & Pappot, H., 8 Jul 2024, In: Journal of Cancer Research and Clinical Oncology. 150, 7, 339.

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

uPAR (PLAUR) Marks Two Intra-Tumoral Subtypes of Glioblastoma: Insights from Single-Cell RNA Sequencing

He, Y., Døssing, K. B. V., Rossing, M., Bagger, F. O. & Kjaer, A., 7 Feb 2024, In: International Journal of Molecular Sciences. 25, 4, 1998.

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

1 Citation (Scopus)

2023

Depth of Sequencing Plays a Determining Role in the Characterization of Phage Display Peptide Libraries by NGS

Sloth, A. B., Bakhshinejad, B., Stavnsbjerg, C., Rossing, M. & Kjaer, A., 11 Mar 2023, In: International Journal of Molecular Sciences. 24, 6, 5396.

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

5 Citations (Scopus)

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Stolarova, L., Kleiblova, P., Zemankova, P., Stastna, B., Janatova, M., Soukupova, J., Achatz, M. I., Ambrosone, C., Apostolou, P., Arun, B. K., Auer, P., Barnard, M., Bertelsen, B., Blok, M. J., Boddicker, N., Brunet, J., Burnside, E. S., Calvello, M., Campbell, I. & Chan, S. H. & 31 others, Chen, F., Chiang, J. B., Coppa, A., Cortesi, L., Crujeiras-González, A., De Leeneer, K., De Putter, R., DePersia, A., Devereux, L., Domchek, S., Efremidis, A., Engel, C., Ernst, C., Evans, D. G. R., Feliubadaló, L., Fostira, F., Fuentes-Ríos, O., Gómez-García, E. B., González, S., Haiman, C., Hansen, T. V. O., Hauke, J., Hodge, J., Hu, C., Huang, H., Ishak, N. D. B., Iwasaki, Y., Konstantopoulou, I., Kraft, P., Rossing, M. & Biobank Japan, 15 Aug 2023, In: Clinical Cancer Research. 29, 16, p. 3037-3050 14 p.

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

20 Citations (Scopus)

Imaging surveillance in multiple endocrine neoplasia type 1: Ten years of experience with somatostatin receptor positron emission tomography

Said, M., Krogh, J., Feldt-Rasmussen, U., Rasmussen, Å. K., Kristensen, T. S., Rossing, C. M., Johannesen, H. H., Oturai, P., Holmager, P., Kjaer, A., Klose, M., Langer, S., Knigge, U. & Andreassen, M., Aug 2023, In: Journal of Neuroendocrinology. 35, 8, e13322.

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

Multigene profiles to guide the use of neoadjuvant chemotherapy for breast cancer: a Copenhagen Breast Cancer Genomics Study

Jensen, M.-B., Pedersen, C. B., Misiakou, M.-A., Talman, M.-L. M., Gibson, L., Tange, U. B., Kledal, H., Vejborg, I., Kroman, N., Nielsen, F. C., Ejlertsen, B. & Rossing, M., Dec 2023, In: Current Medical Literature. Breast Cancer. 9, 1, p. 47 47.

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

3 Citations (Scopus)

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark: A Nationwide Population-Based Retrospective Study in Denmark 1930-2021

Holm, M., Vestergaard, P., Poulsen, M. M., Rasmussen, Å. K., Feldt-Rasmussen, U., Bay, M., Rolighed, L., Londero, S., Pedersen, H. B., Hahn, C. H., Rask, K. B., Nielsen, H. H., Gaustadnes, M., Rossing, M. C., Hermann, A. P., Godballe, C. & Mathiesen, J. S., 2 Apr 2023, In: Cancers. 15, 7, 2125.

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

14 Citations (Scopus)

Quantitative Evaluation of Stem-like Markers of Human Glioblastoma Using Single-Cell RNA Sequencing Datasets

He, Y., Døssing, K. B. V., Sloth, A. B., He, X., Rossing, M. & Kjaer, A., 2 Mar 2023, In: Cancers. 15, 5, 1557.

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

9 Citations (Scopus)

Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders

Zaninetti, C., Leinøe, E., Lozano, M. L., Rossing, M., Bastida, J. M., Zetterberg, E., Rivera, J. & Greinacher, A., Apr 2023, In: Journal of thrombosis and haemostasis : JTH. 21, 4, p. 1010-1019 10 p.

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

12 Citations (Scopus)

2022

A catalog of curated breast cancer genes

Bose, M., Benada, J., Thatte, J. V., Kinalis, S., Ejlertsen, B., Nielsen, F. C., Sørensen, C. S. & Rossing, M., Jan 2022, In: Breast Cancer Research and Treatment. 191, 2, p. 431-441 11 p.

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

7 Citations (Scopus)

Adrenal suppression in patients with chronic obstructive pulmonary disease treated with glucocorticoids: Role of specific glucocorticoid receptor polymorphisms

Sivapalan, P., Borresen, S. W., Eklöf, J., Klose, M., Stæhr Holm, F., Feldt-Rasmussen, U., Rossing, M., Jørgensen, N. R., Marvig, R. L., Saeed, M. I., Wilcke, T., Seersholm, N., Mathioudakis, A. G., Vestbo, J. & Jensen, J.-U. S., 4 Feb 2022, In: PLoS One. 17, 2, e0262898.

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

3 Citations (Scopus)

Analysis of Compositional Bias in a Commercial Phage Display Peptide Library by Next-Generation Sequencing

Sloth, A. B., Bakhshinejad, B., Jensen, M., Stavnsbjerg, C., Liisberg, M. B., Rossing, M. & Kjaer, A., 29 Oct 2022, In: Viruses. 14, 11, 2402.

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

10 Citations (Scopus)

Case Report:Giant Paraganglioma of the Skull Base With Two Somatic Mutations in SDHB and PTEN Genes: Giant Paraganglioma of the Skull Base With Two Somatic Mutations in SDHB and PTEN Genes

Main, A. M., Benndorf, G., Feldt-Rasmussen, U., Fugleholm, K., Kistorp, T., Loya, A. C., Poulsgaard, L., Rasmussen, Å. K., Rossing, M., Sølling, C. & Klose, M. C., 2022, In: Frontiers in Endocrinology. 13, p. 857504 857504.

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

2 Citations (Scopus)

Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach

Thomassen, M., Mesman, R. L. S., Hansen, T. V. O., Menendez, M., Rossing, M., Esteban-Sánchez, A., Tudini, E., Törngren, T., Parsons, M. T., Pedersen, I. S., Teo, S. H., Kruse, T. A., Møller, P., Borg, Å., Jensen, U. B., Christensen, L. L., Singer, C. F., Muhr, D., Santamarina, M. & Brandao, R. & 30 others, Andresen, B. S., Feng, B.-J., Canson, D., Richardson, M. E., Karam, R., Pesaran, T., LaDuca, H., Conner, B. R., Abualkheir, N., Hoang, L., Calléja, F. M. G. R., Andrews, L., James, P. A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D. E., Walker, L. C., Engel, C., Claes, K. B. M., Macháčková, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Consortium, E., Vreeswijk, M. P. G., de la Hoya, M. & Spurdle, A. B., Dec 2022, In: Human Mutation. 43, 12, p. 1921-1944 24 p.

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

6 Citations (Scopus)

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Hakkaart, C., Pearson, J. F., Marquart, L., Dennis, J., Wiggins, G. A. R., Barnes, D. R., Robinson, B. A., Mace, P. D., Aittomäki, K., Andrulis, I. L., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Belhadj, S., Berger, L., Blok, M. J., Boonen, S. E., Borde, J. & Bradbury, A. R. & 31 others, Brunet, J., Buys, S. S., Caligo, M. A., Campbell, I., Chung, W. K., Claes, K. B. M., Collonge-Rame, M.-A., Cook, J., Cosgrove, C., Couch, F. J., Daly, M. B., Dandiker, S., Davidson, R., de la Hoya, M., de Putter, R., Delnatte, C., Dhawan, M., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Easton, D. F., Ehrencrona, H., Engel, C., Evans, D. G., Faust, U., Feliubadaló, L., Hansen, T. V. O., Rossing, M. & GEMO Study Collaborators, 6 Oct 2022, In: Communications biology. 5, 1, p. 1-15 15 p., 1061.

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

9 Citations (Scopus)

MicroRNA-9-3p: a novel predictor of neurological outcome after cardiac arrest

Beske, R. P., Bache, S., Abild Stengaard Meyer, M., Kjærgaard, J., Bro-Jeppesen, J., Obling, L., Olsen, M. H., Rossing, M., Nielsen, F. C., Møller, K., Nielsen, N. & Hassager, C., 9 Aug 2022, In: European heart journal. Acute cardiovascular care. 11, 8, p. 609-616 8 p.

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

7 Citations (Scopus)

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Leman, R., Parfait, B., Vidaud, D., Girodon, E., Pacot, L., Le Gac, G., Ka, C., Ferec, C., Fichou, Y., Quesnelle, C., Aucouturier, C., Muller, E., Vaur, D., Castera, L., Boulouard, F., Ricou, A., Tubeuf, H., Soukarieh, O., Gaildrat, P. & Riant, F. & 16 others, Guillaud-Bataille, M., Caputo, S. M., Caux-Moncoutier, V., Boutry-Kryza, N., Bonnet-Dorion, F., Schultz, I., Rossing, M., Quenez, O., Goldenberg, L., Harter, V., Parsons, M. T., Spurdle, A. B., Frébourg, T., Martins, A., Houdayer, C. & Krieger, S., Dec 2022, In: Human Mutation. 43, 12, p. 2308-2323 16 p.

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

45 Citations (Scopus)

2021

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Coignard, J., Lush, M., Beesley, J., O'Mara, T. A., Dennis, J., Tyrer, J. P., Barnes, D. R., McGuffog, L., Leslie, G., Bolla, M. K., Adank, M. A., Agata, S., Ahearn, T., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arnold, N., Aronson, K. J. & Arun, B. K. & 31 others, Augustinsson, A., Azzollini, J., Barrowdale, D., Baynes, C., Becher, H., Bermisheva, M., Bernstein, L., Białkowska, K., Blomqvist, C., Bojesen, S. E., Bonanni, B., Borg, A., Brauch, H., Brenner, H., Burwinkel, B., Buys, S. S., Caldés, T., Caligo, M. A., Campa, D., Carter, B. D., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K. B. M., Clarke, C. L., Collée, J. M., Flyger, H., Nielsen, F. C., Rossing, M. & GEMO Study Collaborators, Dec 2021, In: Nature Communications. 12, 1, p. 1078 1078.

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

27 Citations (Scopus)

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

Gabrielaite, M., Torp, M. H., Rasmussen, M. S., Andreu-Sánchez, S., Vieira, F. G., Pedersen, C. B., Kinalis, S., Madsen, M. B., Kodama, M., Demircan, G. S., Simonyan, A., Yde, C. W., Olsen, L. R., Marvig, R. L., Østrup, O., Rossing, M., Nielsen, F. C., Winther, O. & Bagger, F. O., 1 Dec 2021, In: Cancers. 13, 24, 21 p., 6283.

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

62 Citations (Scopus)

A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency

Brøns, N., Zaninetti, C., Ostrowski, S. R., Petersen, J., Greinacher, A., Rossing, M. & Leinøe, E., 4 Jul 2021, In: Platelets. 32, 5, p. 701-704

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

2 Citations (Scopus)

Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome: A Swedish retrospective observational study

Åkesson, A., Martin, M., Blom, A. M., Rossing, M., Gabrielaite, M., Zetterberg, E. & Klintman, J., Dec 2021, In: Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy. 25, 6, p. 988-1000 13 p.

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

5 Citations (Scopus)

Clinical implications of intrinsic molecular subtypes of breast cancer for sentinel node status

Rossing, M., Pedersen, C. B., Tvedskov, T., Vejborg, I., Talman, M. L., Olsen, L. R., Kroman, N., Nielsen, F. C., Jensen, M. B. & Ejlertsen, B., 26 Jan 2021, In: Scientific Reports. 11, 1, p. 2259 2259.

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

21 Citations (Scopus)

Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes

Fager Ferrari, M., Zetterberg, E., Rossing, M., Manon-Jensen, T., Pehrsson, M., Karsdal, M. A., Lykkesfeldt, J. & Leinoe, E., Jan 2021, In: Haemophilia. 27, 1, p. e69-e77

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

2 Citations (Scopus)

Frequency and Prognostic Impact of ALK Amplifications and Mutations in the European Neuroblastoma Study Group (SIOPEN) High-Risk Neuroblastoma Trial (HR-NBL1)

Bellini, A., Pötschger, U., Bernard, V., Lapouble, E., Baulande, S., Ambros, P. F., Auger, N., Beiske, K., Bernkopf, M., Betts, D. R., Bhalshankar, J., Bown, N., de Preter, K., Clément, N., Combaret, V., Font de Mora, J., George, S. L., Jiménez, I., Jeison, M. & Marques, B. & 25 others, Martinsson, T., Mazzocco, K., Morini, M., Mühlethaler-Mottet, A., Noguera, R., Pierron, G., Rossing, M., Taschner-Mandl, S., Van Roy, N., Vicha, A., Chesler, L., Balwierz, W., Castel, V., Elliott, M., Kogner, P., Laureys, G., Luksch, R., Malis, J., Popovic-Beck, M., Ash, S., Delattre, O., Valteau-Couanet, D., Tweddle, D. A., Ladenstein, R. & Schleiermacher, G., 20 Oct 2021, In: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 39, 30, p. 3377-3390 14 p.

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

57 Citations (Scopus)

Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2

Hansen, A. R., Borgwardt, L., Rasmussen, Å. K., Godballe, C., Poulsen, M. M., Vieira, F. G., Mathiesen, J. S. & Rossing, M., 2021, In: Frontiers in Endocrinology. 12, p. 764512 764512.

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

Highly impaired platelet ultrastructure in two families with novel IKZF5 variants

Leinoe, E., Kjaersgaard, M., Zetterberg, E., Ostrowski, S., Greinacher, A. & Rossing, M., 19 May 2021, In: Platelets. 32, 4, p. 492-497 6 p.

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

2 Citations (Scopus)

Levels of procoagulant microparticles expressing phosphatidylserine contribute to bleeding phenotype in patients with inherited thrombocytopenia

Brøns, N., Leinøe, E., Salado-Jimena, J. A., Rossing, M. & Ostrowski, S. R., 1 Oct 2021, In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis. 32, 7, p. 480-490 11 p.

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

3 Citations (Scopus)

Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre - A National Danish Cohort

Altaraihi, M., Hansen, T. V. O., Santoni-Rugiu, E., Rossing, M., Rasmussen, Å. K., Gerdes, A.-M. & Wadt, K., 6 Sept 2021, In: Frontiers in Endocrinology. 12, p. 727970 727970.

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

8 Citations (Scopus)

Caroline Maria Rossing

Research output

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