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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2020
  2. Published

    Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without Intragenic IMMP2L Deletions

    Bjerregaard, V. A., Schönewolf-Greulich, B., Juel Rasmussen, L., Desler, C. & Tümer, Z., 2020, In : Frontiers in Neurology. 11, p. 163

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2019
  4. Published

    Autism and developmental disability caused by KCNQ3 gain-of-function variants

    Sands, T. T., Miceli, F., Lesca, G., Beck, A. E., Sadleir, L. G., Arrington, D. K., Schönewolf-Greulich, B., Moutton, S., Lauritano, A., Nappi, P., Soldovieri, M. V., Scheffer, I. E., Mefford, H. C., Stong, N., Heinzen, E. L., Goldstein, D. B., Perez, A. G., Kossoff, E. H., Stocco, A., Sullivan, J. A., Shashi, V., Gerard, B., Francannet, C., Bisgaard, A-M., Tümer, Z., Willems, M., Rivier, F., Vitobello, A., Thakkar, K., Rajan, D. S., Barkovich, A. J., Weckhuysen, S., Cooper, E. C., Taglialatela, M. & Cilio, M. R., Aug 2019, In : Annals of Neurology. 86, 2, p. 181-192 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published
  6. 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 10 p.

    Research output: Contribution to journalReviewResearchpeer-review

  7. 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 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

    Westra, D., Schouten, M. I., Stunnenberg, B. C., Kusters, B., Saris, C. G. J., Erasmus, C. E., van Engelen, B. G., Bulk, S., Verschuuren-Bemelmans, C. C., Gerkes, E. H., de Geus, C., van der Zwaag, P. A., Chan, S., Chung, B., Barge-Schaapveld, D. Q. C. M., Kriek, M., Sznajer, Y., van Spaendonck-Zwarts, K., van der Kooi, A. J., Krause, A., Schönewolf-Greulich, B., de Die-Smulders, C., Sallevelt, S. C. E. H., Krapels, I. P. C., Rasmussen, M., Maystadt, I., Kievit, A. J. A., Witting, N., Pennings, M., Meijer, R., Gillissen, C., Kamsteeg, E-J. & Voermans, N. C., 2019, In : Journal of Neuromuscular Diseases. 6, 2, p. 241-258 18 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 2018
  10. Published

    Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants

    Hamilton, E. M. C., Tekturk, P., Cialdella, F., van Rappard, D. F., Wolf, N. I., Yalcinkaya, C., Çetinçelik, Ü., Rajaee, A., Kariminejad, A., Paprocka, J., Yapici, Z., Bošnjak, V. M., van der Knaap, M. S., Schönewolf-Greulich, B. & MLC Research Group, 17 Apr 2018, In : Neurology. 90, 16, p. e1395-e1403

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published
  12. 2017
  13. Published

    Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex

    Møller, L. B., Schönewolf-Greulich, B., Rosengren, T., Larsen, L. J., Ostergaard, J. R., Sommerlund, M., Ostenfeldt, C., Stausbøl-Grøn, B., Linnet, K. M., Gregersen, P. A. & Jensen, U. B., Apr 2017, In : Molecular Genetics and Metabolism. 120, 4, p. 384-391 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Functional abilities in aging women with Rett syndrome - the Danish cohort

    Schönewolf-Greulich, B., Stahlhut, M., Larsen, J. L., Syhler, B. & Bisgaard, A-M., 2017, In : Disability and rehabilitation. 39, 9, p. 911-918

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 2016
  16. Published

    The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    Schönewolf-Greulich, B., Tejada, M-I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum-Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A-M. & Tümer, Z., Jun 2016, In : Clinical Genetics. 89, 6, p. 733-8 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

    Huang, L., Vanstone, M. R., Hartley, T., Osmond, M., Barrowman, N., Allanson, J., Baker, L., Dabir, T. A., Dipple, K. M., Dobyns, W. B., Estrella, J., Faghfoury, H., Favaro, F. P., Goel, H., Gregersen, P. A., Gripp, K. W., Grix, A., Guion-Almeida, M-L., Harr, M. H., Hudson, C., Hunter, A. G. W., Johnson, J., Joss, S. K., Kimball, A., Kini, U., Kline, A. D., Lauzon, J., Lildballe, D. L., López-González, V., Martinezmoles, J., Meldrum, C., Mirzaa, G. M., Morel, C. F., Morton, J. E. V., Pyle, L. C., Quintero-Rivera, F., Richer, J., Scheuerle, A. E., Schönewolf-Greulich, B., Shears, D. J., Silver, J., Smith, A. C., Temple, I. K., van de Kamp, J. M., van Dijk, F. S., Vandersteen, A. M., White, S. M., Zackai, E. H., Zou, R., Consortium, CR. C. & UCLA Clinical Genomics Center, 2016, In : Human Mutation. 37, 2, p. 148-54

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2015
  19. Published
  20. Published

    Klinisk og molekylærgenetisk diagnostik af Retts syndrom i Danmark

    Schönewolf-Greulich, B., Dunø, M., Ravn, K., Brøndum-Nielsen, K. & Bisgaard, A-M., 29 Jun 2015, In : Ugeskrift for Laeger. 177, 27, p. V12140731

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

    Ravn, K., Schönewolf-Greulich, B., Hansen, R. M., Bohr, A-H., Dunø, M., Wibrand, F. & Østergaard, E., 2015, In : Molecular Genetics and Metabolism Reports. 3, p. 5-10

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 45844763