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Center for Genomic Medicine - 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. E-pub ahead of print
  5. 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

  6. 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))

    ABCTB Investigators, GEMO Study Collaborators, EMBRACE Collaborators, kConFab investigators & HEBON Investigators, 14 May 2021, In: Nature Communications. 12, 1, p. 2986 1 p.

    Research output: Contribution to journalComment/debateResearchpeer-review

  7. E-pub ahead of print

    Basal Cell Carcinoma of Prostate With MSMB-NCOA4 Fusion and a Probable Basal Cell Carcinoma In Situ: Case Report

    Pedersen, V., Petersen, K. S., Brasso, K., Østrup, O. & Loya, A. C., 12 May 2021, (E-pub ahead of print) In: International journal of surgical pathology. p. 10668969211017321

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. E-pub ahead of print

    Human immunotypes impose selection on viral genotypes through viral epitope specificity

    INSIGHT START trial group, 11 May 2021, (E-pub ahead of print) In: The Journal of infectious diseases.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Reducing the rate of psychiatric Re-ADMISsions in Bipolar Disorder using smartphones The RADMIS trial

    Faurholt-Jepsen, M., Tønning, M. L., Frost, M., Martiny, K., Tuxen, N., Rosenberg, N., Busk, J., Winther, O., Thaysen-Petersen, D., Aamund, K. A., Tolderlund, L., Bardram, J. E. & Vedel Kessing, L., May 2021, In: Acta Psychiatrica Scandinavica. 143, 5, p. 453-465 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Transmitted HIV-1 drug resistance in a large international cohort using next-generation sequencing: results from the Strategic Timing of Antiretroviral Treatment (START) study

    Baxter, J. D., Dunn, D., Tostevin, A., Marvig, R. L., Bennedbaek, M., Cozzi-Lepri, A., Sharma, S., Kozal, M. J., Gompels, M., Pinto, A. N., Lundgren, J. & INSIGHT START Study Group, May 2021, In: HIV Medicine. 22, 5, p. 360-371 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published
  12. E-pub ahead of print

    Diagnostic Accuracy and Clinical Impact of [ 18F]FET PET in Childhood CNS tumors

    Marner, L., Lundemann, M., Sehested, A., Nysom, K., Borgwardt, L., Mathiasen, R., Wehner, P. S., Henriksen, O. M., Thomsen, C., Skjøth-Rasmussen, J., Broholm, H., Østrup, O., Forman, J. L., Højgaard, L. & Law, I., 17 Apr 2021, (E-pub ahead of print) In: Neuro-Oncology.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 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

  14. Published
  15. Published

    Omics-based tracking of Pseudomonas aeruginosa persistence in "eradicated" cystic fibrosis patients.

    Bartell, J. A., Sommer, L. M., Marvig, R. L., Skov, M., Pressler, T., Molin, S. & Johansen, H. K., Apr 2021, In: The European respiratory journal. 57, 4, 2000512.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published
  17. Published

    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., Afawi, Z., Almanza Fuerte, E. P., Andrade, D. M., Balcik, Y., Ben Zeev, B., Bennett, M. F., Berkovic, S. F., Isidor, B., Bouman, A., Brilstra, E., Busk, Ø. L., Cairns, A., Caumes, R., Chatron, N., Dale, R. C., de Geus, C., Edery, P., Gill, D., Granild-Jensen, J. B., Gunderson, L., Gunning, B., Heimer, G., Helle, J. R., Hildebrand, M. S., Hollingsworth, G., Kharytonov, V., Klee, E. W., Koeleman, B. P. C., Koolen, D. A., Korff, C., Küry, S., Lesca, G., Lev, D., Leventer, R. J., Mackay, M. T., Macke, E. L., McEntagart, M., Mohammad, S. S., Monin, P., Montomoli, M., Morava, E., Moutton, S., Muir, A. M., Parrini, E., Procopis, P., Ranza, E., Reed, L., Reif, P. S., Rosenow, F., Rossi, M., Sadleir, L. G., Sadoway, T., Schelhaas, H. J., Schneider, A. L., Shah, K., Shalev, R., Sisodiya, S. M., Smol, T., Stumpel, C. T. R. M., Stuurman, K., Symonds, J. D., Mau-Them, F. T., Verbeek, N., Verhoeven, J. S., Wallace, G., Yosovich, K., Zarate, Y. A., Zerem, A., Zuberi, S. M., Guerrini, R., Mefford, H. C., Patel, C., Zhang, Y-H., Møller, R. S. & Scheffer, I. E., Feb 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23, 2, p. 363-373 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published
  19. 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

  20. Published

    Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome

    Jelsig, A. M., Bertelsen, B., Forss, I. & Karstensen, J. G., Jan 2021, In: Familial Cancer. 20, 1, p. 55-59 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Phylogenetic analysis of HIV-1 shows frequent cross-country transmission and local population expansions

    Bennedbæk, M., Zhukova, A., Tang, M-H. E., Bennet, J., Munderi, P., Ruxrungtham, K., Gisslen, M., Worobey, M., Lundgren, J. D. & Marvig, R. L., 2021, In: Virus evolution. 7, 2, p. veab055

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. 2020
  23. Published

    Changes in the Tumor Immune Microenvironment during Disease Progression in Patients with Ovarian Cancer

    Westergaard, M. C. W., Milne, K., Pedersen, M., Hasselager, T., Olsen, L. R., Anglesio, M. S., Borch, T. H., Kennedy, M., Briggs, G., Ledoux, S., Kreuzinger, C., Decken, I. V. D., Donia, M., Castillo-Tong, D. C., Nelson, B. H. & Svane, I. M., 18 Dec 2020, In: Cancers. 12, 12

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. 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

  25. Published
  26. Published

    Cytoplasmic mRNPs revisited: Singletons and condensates

    Mateu-Regué, À., Nielsen, F. C. & Christiansen, J., Dec 2020, In: BioEssays. 42, 12, p. e2000097

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 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

  28. Published

    Identification and validation of 174 COVID-19 vaccine candidate epitopes reveals low performance of common epitope prediction tools

    Justesen, S., Prachar, M., Steen-Jensen, D. B., Thorgrimsen, S., Jurgons, E., Winther, O., Bagger, F. O. & Martiny, K. P. J., 24 Nov 2020, In: Scientific Reports. 10, 1, p. 20465

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. 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

  30. Published
  31. 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

  32. Published
  33. Published

    Gene Loss and Acquisition in Lineages of Pseudomonas aeruginosa Evolving in Cystic Fibrosis Patient Airways

    Gabrielaite, M., Johansen, H. K., Molin, S., Nielsen, F. C. & Marvig, R. L., 27 Oct 2020, In: mBio. 11, 5, p. e02359-20

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. 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

  35. Published

    Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    GEMO Study Collaborators, Oct 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22, 10, p. 1653-1666 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

    Hennermann, J. B., Guffon, N., Cattaneo, F., Ceravolo, F., Borgwardt, L., Lund, A. M., Gil-Campos, M., Tylki-Szymanska, A. & Muschol, N. M., 29 Sep 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 271

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

    Djursby, M., Madsen, M. B., Frederiksen, J. H., Berchtold, L. A., Therkildsen, C., Willemoe, G. L., Hasselby, J. P., Wikman, F., Okkels, H., Skytte, A-B., Nilbert, M., Wadt, K., Gerdes, A-M. & van Overeem Hansen, T., 24 Sep 2020, In: Frontiers in genetics. 11, p. 566266 566266.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Oxacillinase-181 Carbapenemase-Producing Klebsiella pneumoniae in Neonatal Intensive Care Unit, Ghana, 2017-2019

    Labi, A-K., Nielsen, K. L., Marvig, R. L., Bjerrum, S., Enweronu-Laryea, C., Bennedbæk, M., Newman, M. J., Ayibor, P. K., Andersen, L. P. & Kurtzhals, J. A. L., Sep 2020, In: Emerging Infectious Diseases . 26, 9, p. 2235-2238 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Ultra-fast detection and quantification of nucleic acids by amplification-free fluorescence assay

    Uhd, J., Miotke, L., Ji, H. P., Dunaeva, M., Pruijn, G. J. M., Jørgensen, C. D., Kristoffersen, E. L., Birkedal, V., Yde, C. W., Nielsen, F. C., Hansen, J. & Astakhova, K., 24 Aug 2020, In: The Analyst. 145, 17, p. 5836-5844 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    scVAE: variational auto-encoders for single-cell gene expression data

    Grønbech, C. H., Vording, M. F., Timshel, P. N., Sønderby, C. K., Pers, T. H. & Winther, O., 15 Aug 2020, In: Bioinformatics. 36, 16, p. 4415-4422 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Human erythroleukemia genetics and transcriptomes identify master transcription factors as functional disease drivers

    Fagnan, A., Bagger, F. O., Piqué-Borràs, M-R., Ignacimouttou, C., Caulier, A., Lopez, C. K., Robert, E., Uzan, B., Gelsi-Boyer, V., Aid, Z., Thirant, C., Moll, U., Tauchmann, S., Kurtovic-Kozaric, A., Maciejewski, J., Dierks, C., Spinelli, O., Salmoiraghi, S., Pabst, T., Shimoda, K., Deleuze, V., Lapillonne, H., Sweeney, C., De Mas, V., Leite, B., Kadri, Z., Malinge, S., de Botton, S., Micol, J-B., Kile, B., Carmichael, C. L., Iacobucci, I., Mullighan, C. G., Carroll, M., Valent, P., Bernard, O. A., Delabesse, E., Vyas, P., Birnbaum, D., Anguita, E., Garçon, L., Soler, E., Schwaller, J. & Mercher, T., 6 Aug 2020, In: Blood. 136, 6, p. 698-714 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. 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

  43. 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

  44. 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

  45. Published

    GenAPI: a tool for gene absence-presence identification in fragmented bacterial genome sequences

    Gabrielaite, M. & Marvig, R. L., 20 Jul 2020, In: BMC Bioinformatics. 21, 1, p. 320

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published
  47. Published

    Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

    GEMO Study Collaborators, Jul 2020, In: Genetic Epidemiology. 44, 5, p. 442-468 27 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    Daily estimates of clinical severity of symptoms in bipolar disorder from smartphone-based self-assessments

    Busk, J., Faurholt-Jepsen, M., Frost, M., Bardram, J. E., Kessing, L. V. & Winther, O., 18 Jun 2020, In: Translational psychiatry. 10, 1, p. 194 194.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Nuclear interacting SET domain protein 1 inactivation impairs GATA1-regulated erythroid differentiation and causes erythroleukemia

    Leonards, K., Almosailleakh, M., Tauchmann, S., Bagger, F. O., Thirant, C., Juge, S., Bock, T., Méreau, H., Bezerra, M. F., Tzankov, A., Ivanek, R., Losson, R., Peters, A. H. F. M., Mercher, T. & Schwaller, J., 12 Jun 2020, In: Nature Communications. 11, 1, p. 2807

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    Adoptive cell therapy in combination with checkpoint inhibitors in ovarian cancer

    Kverneland, A. H., Pedersen, M., Westergaard, M. C. W., Nielsen, M., Borch, T. H., Olsen, L. R., Aasbjerg, G., Santegoets, S. J., van der Burg, S. H., Milne, K., Nelson, B. H., Met, Ö., Donia, M. & Svane, I. M., 2 Jun 2020, In: Oncotarget. 11, 22, p. 2092-2105 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. Published

    Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

    kConFab Investigators, Jun 2020, In: Nature Genetics. 52, 6, p. 572-581 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published

    Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

    Phillips, D., Hennermann, J. B., Tylki-Szymanska, A., Borgwardt, L., Gil-Campos, M., Guffon, N., Amraoui, Y., Geraci, S., Ardigò, D., Cattaneo, F. & Lund, A. M., Jun 2020, In: Molecular Genetics and Metabolism Reports. 23, p. 100586

    Research output: Contribution to journalJournal articleResearchpeer-review

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