Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital

Cathrine Jespersgaard

(Former)

  1. 2019
  2. Published

    Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

    Jespersgaard, C., Fang, M., Bertelsen, M., Dang, X., Jensen, H., Chen, Y., Bech, N., Dai, L., Rosenberg, T., Zhang, J., Møller, L. B., Tümer, Z., Brøndum-Nielsen, K. & Grønskov, K., 4 Feb 2019, In : Scientific Reports. 9, 1, p. 1219

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

    Grønskov, K., Jespersgaard, C., Bruun, G. H., Harris, P., Brøndum-Nielsen, K., Andresen, B. S. & Rosenberg, T., 24 Jan 2019, In : Scientific Reports. 9, 1, p. 645

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 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

  5. 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

  6. 2018
  7. 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

  8. 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

  9. 2017
  10. 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

  11. Published
  12. 2016
  13. 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

  14. Published
  15. 2015
  16. Published
  17. 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

  18. 2013
  19. 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

  20. 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

  21. Published

ID: 36882837