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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2019
  2. Published

    Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

    Schönewolf-Greulich, B., Bisgaard, A-M., Møller, R. S., Dunø, M., Brøndum-Nielsen, K., Kaur, S., Van Bergen, N. J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J. & Tümer, Z., 2019, In : Clinical Genetics. 95, 2, p. 221-230

    Research output: Contribution to journalReviewResearchpeer-review

  3. Published

    Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Schönewolf-Greulich, B., Bisgaard, A-M., Dunø, M., Jespersgaard, C., Rokkjaer, M., Hansen, L. K., Tsoutsou, E., Sofokleous, C., Topcu, M., Kaur, S., Van Bergen, N. J., Brøndum-Nielsen, K., Larsen, M. J., Sørensen, K. P., Christodoulou, J., Fagerberg, C. R. & Tümer, Z., 2019, In : Clinical Genetics. 95, 3, p. 403-408

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2018
  5. Published

    Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

    Nazaryan-Petersen, L., Eisfeldt, J., Pettersson, M., Lundin, J., Nilsson, D., Wincent, J., Lieden, A., Lovmar, L., Ottosson, J., Gacic, J., Mäkitie, O., Nordgren, A., Vezzi, F., Wirta, V., Käller, M., Hjortshøj, T. D., Jespersgaard, C., Houssari, R., Pignata, L., Bak, M., Tommerup, N., Lundberg, E. S., Tümer, Z. & Lindstrand, A., Nov 2018, In : P L o S Genetics. 14, 11, p. e1007780

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Heterozygous Mutations in Gtp-Cyclohydrolase-1 Reduce Bh4 Biosynthesis but Not Pain Sensitivity

    Nasser, A., Møller, A. T., Hellmund, V., Thorborg, S. S., Jespersgaard, C., Bjerrum, O. J., Dupont, E., Nachman, G., Lykkesfeldt, J., Jensen, T. S. & Møller, L. B., 2018, In : Pain. 159, 6, p. 1012-1024

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 2017
  8. Published

    Phenotypes and genotypes in individuals with SMC1A variants

    Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A-M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., Aug 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published
  10. 2016
  11. Published

    TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome

    Forde, N. J., Kanaan, A. S., Widomska, J., Padmanabhuni, S. S., Nespoli, E., Alexander, J., Rodriguez Arranz, J. I., Fan, S., Houssari, R., Nawaz, M. S., Rizzo, F., Pagliaroli, L., Zilhäo, N. R., Aranyi, T., Barta, C., Boeckers, T. M., Boomsma, D. I., Buisman, W. R., Buitelaar, J. K., Cath, D., Dietrich, A., Driessen, N., Drineas, P., Dunlap, M., Gerasch, S., Glennon, J., Hengerer, B., van den Heuvel, O. A., Jespersgaard, C., Möller, H. E., Müller-Vahl, K. R., Openneer, T. J. C., Poelmans, G., Pouwels, P. J. W., Scharf, J. M., Stefansson, H., Tümer, Z., Veltman, D. J., van der Werf, Y. D., Hoekstra, P. J., Ludolph, A. & Paschou, P., 23 Aug 2016, In : Frontiers in Neuroscience. 10, p. 384

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published
  13. 2015
  14. Published
  15. Published

    Cornelia de Lange Syndrome

    Boyle, M. I., Jespersgaard, C., Brøndum-Nielsen, K., Bisgaard, A-M. & Tümer, Z., 2015, In : Clinical Genetics. 572, 1, p. 2015 Nov 1;572(1):130-4.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 2013
  17. Published

    Erratum: MT-CYB mutations in hypertrophic cardiomyopathy

    Hagen, C. M., Aidt, F. H., Havndrup, O., Hedley, P. L., Jespersgaard, C., Jensen, M., Kanters, J. K., Moolman-Smook, J. C., Møller, D. V., Bundgaard, H. & Christiansen, M., Sep 2013

    Research output: Other contributionResearch

  18. Published

    MT-CYB mutations in hypertrophic cardiomyopathy

    Hagen, C. M., Aidt, F. H., Havndrup, O., Hedley, P. L., Jespersgaard, C., Jensen, M., Kanters, J. K., Moolman-Smook, J. C., Møller, D. V., Bundgaard, H. & Christiansen, M., May 2013, In : Molecular Genetics & Genomic Medicine. 1, 1, p. 54-65 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

ID: 36882837