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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2021
  2. Published
  3. Published

    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 journalJournal articleResearchpeer-review

  4. Published

    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 journalJournal articleResearchpeer-review

  5. Published

    Erratum: Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature communications (2021) 12 1 (1078))

    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., 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., ABCTB Investigators, GEMO Study Collaborators, EMBRACE Collaborators, kConFab investigators & HEBON Investigators, 14 May 2021, 1 p.

    Research output: Other contributionResearch

  6. Published
  7. Published

    Multiple endocrine neoplasia type 2: A reveiw

    Mathiesen, J. S., Effraimidis, G., Rossing, M., Rasmussen, Å. K., Hoejberg, L., Bastholt, L., Godballe, C., Oturai, P. & Feldt-Rasmussen, U., 1 Apr 2021, In: Seminars in Cancer Biology.

    Research output: Contribution to journalReviewResearchpeer-review

  8. Published
  9. Published

    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 journalJournal articleResearchpeer-review

  10. 2020
  11. Published

    Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

    Byrjalsen, A., Hansen, T. V. O., Stoltze, U. K., Mehrjouy, M. M., Barnkob, N. M., Hjalgrim, L. L., Mathiasen, R., Lautrup, C. K., Gregersen, P. A., Hasle, H., Wehner, P. S., Tuckuviene, R., Sackett, P. W., Laspiur, A. O., Rossing, M., Marvig, R. L., Tommerup, N., Olsen, T. E., Scheie, D., Gupta, R., Gerdes, A-M., Schmiegelow, K. & Wadt, K., 17 Dec 2020, In: Plos Genetics. 16, 12, p. e1009231 e1009231.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Elevated miR-9 in Cerebrospinal Fluid Is Associated with Poor Functional Outcome After Subarachnoid Hemorrhage

    Bache, S., Rasmussen, R., Wolcott, Z., Rossing, M., Møgelvang, R., Tolnai, D., Hassager, C., Forman, J. L., Køber, L., Nielsen, F. C., Kimberly, W. T. & Møller, K., Dec 2020, In: Translational Stroke Research. 11, 6, p. 1243-1252 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status

    Olafsdottir, E. J., Borg, A., Jensen, M-B., Gerdes, A-M., Johansson, A. L. V., Barkardottir, R. B., Johannsson, O. T., Ejlertsen, B., Sønderstrup, I. M. H., Hovig, E., Lænkholm, A-V., Hansen, T. V. O., Olafsdottir, G. H., Rossing, M., Jonasson, J. G., Sigurdsson, S., Loman, N., Nilsson, M. P., Narod, S. A. & Tryggvadottir, L., Nov 2020, In: British Journal of Cancer. 123, 11, p. 1608-1615 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Induction of PIK3CA alterations during neoadjuvant letrozole may improve outcome in postmenopausal breast cancer patients

    Skriver, S. K., Jensen, M-B., Eriksen, J-O., Ahlborn, L. B., Knoop, A. S., Rossing, M., Ejlertsen, B. & Laenkholm, A-V., Nov 2020, In: Breast Cancer Research and Treatment. 184, 1, p. 123-133 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published
  16. Published

    A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family

    Fager Ferrari, M., Leinoe, E., Rossing, M., Norström, E. & Zetterberg, E., Oct 2020, In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis. 31, 7, p. 481-484 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability

    Zarrizi, R., Higgs, M. R., Voßgröne, K., Rossing, M., Bertelsen, B., Bose, M., Kousholt, A. N., Rösner, H., Network, T. C., Ejlertsen, B., Stewart, G. S., Nielsen, F. C. & Sørensen, C. S., 3 Aug 2020, In: The Journal of clinical investigation. 140, 8, p. 4069-4080 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

    CIMBA Group, 1 Aug 2020, In: JAMA Oncology. 6, 8, p. 1218-1230 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes

    Main, A. M., Rossing, M., Borgwardt, L., Grønkær Toft, B., Rasmussen, Å. K. & Feldt-Rasmussen, U., Aug 2020, In: Endocrine Connections. 9, 8, p. 793-803 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients

    Mathiesen, J. S., Nielsen, S. G., Rasmussen, Å. K., Kiss, K., Wadt, K., Hermann, A. P., Nielsen, M. F., Larsen, S. R., Brusgaard, K., Frederiksen, A. L., Godballe, C. & Rossing, M., 28 Apr 2020, In: Frontiers in Endocrinology. 11, p. 251 251.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published
  22. Published

    A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome

    Bache, I., Wadt, K., Mehrjouy, M. M., Rossing, M., Østrup, O., Byrjalsen, A., Tommerup, N., Metzner, M., Vyas, P., Schmiegelow, K., Lausen, B. & Andersen, M. K., 3 Mar 2020, In: Blood Cancer Journal. 10, 3, p. 27

    Research output: Contribution to journalLetterResearchpeer-review

  23. Published

    Genetic screening of children with suspected inherited bleeding disorders

    Andersson, N. G., Rossing, M., Fager Ferrari, M., Gabrielaite, M., Leinøe, E., Ljung, R., Mårtensson, A., Norström, E. & Zetterberg, E., Mar 2020, In: Haemophilia. 26, 2, p. 314-324 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Erratum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: An international collaborative effort (Nucleic Acids Research (2018) 46:15 (7913-7923) DOI: 10.1093/nar/gky372)

    Leman, R., Gaildrat, P., Le Gac, G., Ka, C., Fichou, Y., Audrezet, M-P., Caux-Moncoutier, V., Caputo, S. M., Boutry-Kryza, N., Léone, M., Mazoyer, S., Bonnet-Dorion, F., Sevenet, N., Guillaud-Bataille, M., Rouleau, E., Bressac-de Paillerets, B., Wappenschmidt, B., Rossing, M., Muller, D., Bourdon, V., Revillon, F., Parsons, M. T., Rousselin, A., Davy, G., Castelain, G., Castéra, L., Sokolowska, J., Coulet, F., Delnatte, C., Férec, C., Spurdle, A. B., Martins, A., Krieger, S. & Houdayer, C., 20 Feb 2020, 2 p.

    Research output: Other contributionResearch

  25. Published

    Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

    Patel, V. L., Busch, E. L., Friebel, T. M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barnes, D. R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M. J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S. E., Borde, J., Borg, A., Bradbury, A. R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S. S., Cabezas-Camarero, S., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Campbell, I. G., Carnevali, I., Carrasco, E., Chan, T. L., Chu, A. T. W., Chung, W. K., Claes, K. B. M., Collaborators, G. S., Collaborators, E., Cook, J., Cortesi, L., Couch, F. J., Daly, M. B., Damante, G., Darder, E., Davidson, R., de la Hoya, M., Della Puppa, L., Dennis, J., Díez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Donaldson, A., Dworniczak, B., Easton, D. F., Eccles, D. M., Eeles, R. A., Ehrencrona, H., Ejlertsen, B., Engel, C., Evans, D. G., Faivre, L., Faust, U., Feliubadaló, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., García-Barberán, V., Garre, P., Gauthier-Villars, M., Géczi, L., Gehrig, A., Gerdes, A-M., Gesta, P., Giannini, G., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gutierrez-Barrera, A. M., Hahnen, E., Hamann, U., Hauke, J., Herold, N., Hogervorst, F. B. L., Honisch, E., Hopper, J. L., Hulick, P. J., Investigators, KC., Investigators, H., Izatt, L., Jager, A., James, P., Janavicius, R., Jensen, U. B., Jensen, T. D., Johannsson, O. T., John, E. M., Joseph, V., Kang, E., Kast, K., Kiiski, J. I., Kim, S-W., Kim, Z., Ko, K-P., Konstantopoulou, I., Kramer, G., Krogh, L., Kruse, T. A., Kwong, A., Larsen, M., Lasset, C., Lautrup, C., Lázaro, C., Lee, J., Lee, J. W., Lee, M. H., Lemke, J., Lesueur, F., Liljegren, A., Lindblom, A., Llovet, P., Lopez-Fernández, A., Lopez-Perolio, I., Lorca, V., Loud, J. T., Ma, E. S. K., Mai, P. L., Manoukian, S., Mari, V., Martin, L., Matricardi, L., Mebirouk, N., Medici, V., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Miller, C., Molina Gomes, D., Montagna, M., Mooij, T. M., Moserle, L., Mouret-Fourme, E., Mulligan, A. M., Nathanson, K. L., Navratilova, M., Nevanlinna, H., Niederacher, D., Cilius Nielsen, F. C., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Ong, K-R., Osorio, A., Ott, C-E., Palli, D., Park, S. K., Parsons, M. T., Pedersen, I. S., Peissel, B., Peixoto, A., Pérez-Segura, P., Peterlongo, P., Høgh Petersen, A., Porteous, M. E., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Rashid, M. U., Rhiem, K., Rizzolo, P., Robson, M. E., Rookus, M. A., Rossing, C. M., Ruddy, K. J., Santos, C., Saule, C., Scarpitta, R., Schmutzler, R. K., Schuster, H., Senter, L., Seynaeve, C. M., Shah, P. D., Sharma, P., Shin, V. Y., Silvestri, V., Simard, J., Singer, C. F., Skytte, A-B., Snape, K., Solano, A. R., Soucy, P., Southey, M. C., Spurdle, A. B., Steele, L., Steinemann, D., Stoppa-Lyonnet, D., Stradella, A., Sunde, L., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tommasi, S., Torres, D., Toss, A., Trainer, A. H., Tung, N., van Asperen, C. J., van der Baan, F. H., van der Kolk, L. E., van der Luijt, R. B., van Hest, L. P., Varesco, L., Varon-Mateeva, R., Viel, A., Vierstraete, J., Villa, R., von Wachenfeldt, A., Wagner, P., Wang-Gohrke, S., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yadav, S., Yannoukakos, D., Yoon, S-Y., Zanzottera, C., Zorn, K. K., D'Amico, A. V., Freedman, M. L., Pomerantz, M. M., Chenevix-Trench, G., Antoniou, A. C., Neuhausen, S. L., Ottini, L., Nielsen, H. R. & Rebbeck, T. R., 1 Feb 2020, In: Cancer Research. 80, 3, p. 624-638 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

    Leman, R., Tubeuf, H., Raad, S., Tournier, I., Derambure, C., Lanos, R., Gaildrat, P., Castelain, G., Hauchard, J., Killian, A., Baert-Desurmont, S., Legros, A., Goardon, N., Quesnelle, C., Ricou, A., Castera, L., Vaur, D., Le Gac, G., Ka, C., Fichou, Y., Bonnet-Dorion, F., Sevenet, N., Guillaud-Bataille, M., Boutry-Kryza, N., Schultz, I., Caux-Moncoutier, V., Rossing, M., Walker, L. C., Spurdle, A. B., Houdayer, C., Martins, A. & Krieger, S., 28 Jan 2020, In: BMC Genomics. 21, 1, p. 86

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

    Figlioli, G., Kvist, A., Tham, E., Soukupova, J., Kleiblova, P., Muranen, T. A., Andrieu, N., Azzollini, J., Balmaña, J., Barroso, A., Benítez, J., Bertelsen, B., Blanco, A., Bonanni, B., Borg, Å., Brunet, J., Calistri, D., Calvello, M., Chvojka, S., Cortesi, L., Darder, E., Del Valle, J., Diez, O., Eon-Marchais, S., Fostira, F., Gensini, F., Houdayer, C., Janatova, M., Kiiski, J. I., Konstantopoulou, I., Kubelka-Sabit, K., Lázaro, C., Lesueur, F., Manoukian, S., Marcinkute, R., Mickys, U., Moncoutier, V., Myszka, A., Nguyen-Dumont, T., Nielsen, F. C., Norvilas, R., Olah, E., Osorio, A., Papi, L., Peissel, B., Peixoto, A., Plaseska-Karanfilska, D., Pócza, T., Rossing, M., Rudaitis, V. & ENIGMA consortium, 26 Jan 2020, In: Cancers. 12, 2, p. 292

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    GEMO Study Collaborators, Jan 2020, In: Nature Genetics. 52, 1, p. 56-73 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

    kConFab investigators, 2020, In: Current Medical Literature. Breast Cancer. 6, p. 44

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. 2019
  31. Published

    Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases

    Frederiksen, A., Rossing, M., Hermann, P., Ejersted, C., Thakker, R. V. & Frost, M., 1 Sep 2019, In: The Journal of clinical endocrinology and metabolism. 104, 9, p. 3637-3646 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia

    Leinøe, E., Gabrielaite, M., Østrup, O., Funding, E., Greinacher, A., Ostrowski, S. R., Zetterberg, E. & Rossing, M., Jul 2019, In: British Journal of Haematology. 186, 2, p. 373-376 4 p.

    Research output: Contribution to journalLetterResearchpeer-review

  33. Published

    Long-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort Study

    Høxbroe Michaelsen, S., Ornstrup, M. J., Poulsen, M. M., Bennedbaek, F. N., Gaustadnes, M., Rossing, M., Darling, P., Vestergaard, P. & Mathiesen, J. S., May 2019, In: Journal of Surgical Oncology. 119, 6, p. 687-693 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    Whole genome sequencing of breast cancer

    Rossing, M., Sørensen, C. S., Ejlertsen, B. & Nielsen, F. C., May 2019, In: APMIS - Journal of Pathology, Microbiology and Immunology. 127, 5, p. 303-315 13 p.

    Research output: Contribution to journalReviewResearchpeer-review

  35. Published

    Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997-2013: a nationwide study

    Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Rasmussen, Å. K., Poulsen, P. L., Feldt-Rasmussen, U., Schytte, S., Londero, S. C., Pedersen, H. B., Hahn, C. H., Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, F. C., Brixen, K., Frederiksen, A. L., Godballe, C. & Danish Thyroid Cancer Group (DATHYRCA), 2019, In: Clinical Epidemiology. 11, p. 93-99 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Replication of newly proposed TNM staging system for medullary thyroid carcinoma: a nationwide study

    Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, U., Schytte, S., Londero, S. C., Pedersen, H. B., Hahn, C. H., Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, F. C., Brixen, K. & Godballe, C., 2019, In: Endocrine Connections. 8, 1, p. 1-7 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

    ABCTB Investigators, 2019, In: Current Medical Literature. Breast Cancer. 5, p. 38

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. 2018
  39. Published

    BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

    ENIGMA consortium, Dec 2018, In: Human Mutation. 39, 12, p. 2025-2039 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    Using microarray-based subtyping methods for breast cancer in the era of high-throughput RNA sequencing

    Pedersen, C. B., Nielsen, F. C., Rossing, M. & Olsen, L. R., Dec 2018, In: Molecular Oncology. 12, 12, p. 2136-2146 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: a nationwide study

    Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, U., Schytte, S., Pedersen, H. B., Hahn, C. H., Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, F. C., Brixen, K., Frederiksen, A. L. & Godballe, C., Oct 2018, In: Clinical Epidemiology. 10, p. 1479-1487 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    Refractory chronic "ITP": When platelet size matters

    Baliakas, P., Kättström, M., Rossing, M. & Amini, R-M., Sep 2018, In: Clinical Case Reports. 6, 9, p. 1779-1780 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published
  44. Published

    En familie med nedarvet DICER1-mutation

    Altaraihi, M., Pedersen, J., Rossing, M., Gerdes, A-M. & Wadt, K., 18 Jun 2018, In: Ugeskrift for Laeger. 180, 24, p. V01180063

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study

    Mathiesen, J. S., Kroustrup, J. P., Vestergaard, P., Stochholm, K., Poulsen, P. L., Rasmussen, Å. K., Feldt-Rasmussen, U., Schytte, S., Londero, S. C., Pedersen, H. B., Hahn, C. H., Djurhuus, B. D., Bentzen, J., Möller, S., Gaustadnes, M., Rossing, M., Nielsen, F. C., Brixen, K., Frederiksen, A. L., Godballe, C. & Danish Thyroid Cancer Group (DATHYRCA), Jun 2018, In: Endocrine Connections. 7, 6, p. 829-839 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    A Danish national effort of BRCA1/2 variant classification

    Pedersen, I. S., Schmidt, A. Y., Bertelsen, B., Ernst, A., Andersen, C. L. T., Kruse, T., Rossing, M. & Thomassen, M., 18 Jan 2018, In: Acta oncologica . p. 159-162 4 p., 57.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Characterization of basal-like subtype in a Danish consecutive primary breast cancer cohort

    Kinalis, S., Nielsen, F. C., Talman, M-L., Ejlertsen, B. & Rossing, M., 2018, In: Acta oncologica . 57, 1, p. 51-57 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    Clinical and molecular characterization of BRCA-associated breast cancer: results from the DBCG

    Soenderstrup, I. M. H., Laenkholm, A. V., Jensen, M. B., Eriksen, J. O., Gerdes, A. M., Hansen, T. V. O., Kruse, T. A., Larsen, M. J., Pedersen, I. S., Rossing, M., Thomassen, M. & Ejlertsen, B., 2018, In: Acta oncologica . 57, 1, p. 95-101

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

    Leman, R., Gaildrat, P., Gac, G. L., Ka, C., Fichou, Y., Audrezet, M-P., Caux-Moncoutier, V., Caputo, S. M., Boutry-Kryza, N., Léone, M., Mazoyer, S., Bonnet-Dorion, F., Sevenet, N., Guillaud-Bataille, M., Rouleau, E., Paillerets, B. B., Wappenschmidt, B., Rossing, M., Muller, D., Bourdon, V., Revillon, F., Parsons, M. T., Rousselin, A., Davy, G., Castelain, G., Castéra, L., Sokolowska, J., Coulet, F., Delnatte, C., Férec, C., Spurdle, A. B., Martins, A., Krieger, S. & Houdayer, C., 2018, 2 p.

    Research output: Other contributionResearch

  50. Published

    Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

    Nielsen, S. M., Eccles, D. M., Romero, I. L., Rossing, M., van Overeem Hansen, T., Spurdle, A., De Nicolo, A., Gomez-Garcia, E. B. & ENIGMA consortium, 2018, In: JCO Precision Oncology. 2, p. 1-42 43 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. Published

    Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding

    Fager Ferrari, M., Leinoe, E., Rossing, M., Norström, E., Strandberg, K., Steen Sejersen, T., Qvortrup, K. & Zetterberg, E., 2018, In: Platelets. 29, 1, p. 56-64 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published
  53. Published
  54. Published

    Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

    Leman, R., Gaildrat, P., Gac, G. L., Ka, C., Fichou, Y., Audrezet, M-P., Caux-Moncoutier, V., Caputo, S. M., Boutry-Kryza, N., Léone, M., Mazoyer, S., Bonnet-Dorion, F., Sevenet, N., Guillaud-Bataille, M., Rouleau, E., Bressac-de Paillerets, B., Wappenschmidt, B., Rossing, M., Muller, D., Bourdon, V., Revillon, F., Parsons, M. T., Rousselin, A., Davy, G., Castelain, G., Castéra, L., Sokolowska, J., Coulet, F., Delnatte, C., Férec, C., Spurdle, A. B., Martins, A., Krieger, S. & Houdayer, C., 2018, In: Nucleic Acids Research. 46, 15, p. 7913-7923 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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ID: 32168871