Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


  1. 2024
  2. Published

    Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome

    Barington, M., Bak, M., Kjartansdóttir, K. R., Hansen, Thomas van Overeem, Birkedal, U., Østergaard, Elsebet & Hove, H. B., 2024, In: American Journal of Medical Genetics, Part A. 194, 8, 6 p., e63581.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report

    Guldberg, Frederikke, Larsen, C. C., Østergaard, Elsebet, Carlsen, Jonathan Frederik, Juhler, Marianne & Munch, Tina Nørgaard, 2024, In: Child's Nervous System. 40, 3, p. 947-951 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. E-pub ahead of print

    Status epilepticus in POLG disease: a large multinational study

    Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Brodtkorb, E., Ostergaard, E., de Coo, I., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Majamaa, K., Kärppä, M., Ortigoza-Escobar, J. D., Tangeraas, T., Berland, S., Harrison, E., Biggs, H., Horvath, R., Darin, N. & 2 others, Rahman, S. & Bindoff, L. A., 2024, (E-pub ahead of print) In: Journal of Neurology. 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

    Shepherdson, J. L., Hutchison, K., Don, D. W., McGillivray, G., Choi, T. I., Allan, C. A., Amor, D. J., Banka, S., Basel, D. G., Buch, L. D., Carere, D. A., Carroll, R., Clayton-Smith, J., Crawford, A., Dunø, M., Faivre, L., Gilfillan, C. P., Gold, N. B., Gripp, K. W., Hobson, E. & 37 others, Holtz, A. M., Innes, A. M., Isidor, B., Jackson, A., Katsonis, P., Amel Riazat Kesh, L., Küry, S., Lecoquierre, F., Lockhart, P., Maraval, J., Matsumoto, N., McCarrier, J., McCarthy, J., Miyake, N., Moey, L. H., Németh, A. H., Østergaard, Elsebet, Patel, R., Pope, K., Posey, J. E., Schnur, R. E., Shaw, M., Stolerman, E., Taylor, J. P., Wadman, E., Wakeling, E., White, S. M., Wong, L. C., Lupski, J. R., Lichtarge, O., Corbett, M., Gècz, J., M. Nicolet, C., Farnham, P. J., Kim, C., Shinawi, M. & Genomics England Research Consortium, G. E. R. C., 2024, In: American Journal of Human Genetics. 111, 3, p. 487-508 22 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2023
  7. Published

    Cerebral Palsy – Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention

    Hoei-Hansen, C. E., Weber, L., Johansen, M., Fabricius, R., Hansen, J. K., Viuff, A. C. F., Rønde, G., Hahn, G. H., Østergaard, E., Duno, M., Larsen, V. A., Madsen, C. G., Røhder, K., Elvrum, A. K. G., Laugesen, B., Ganz, M., Madsen, K. S., Willerslev-Olsen, M., Debes, N. M., Christensen, J. & 2 others, Christensen, R. & Rackauskaite, G., 2023, In: BMC Pediatrics. 23, 1, 14 p., 544.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

    Accogli, A., Lin, S. J., Severino, M., Kim, S. H., Huang, K., Rocca, C., Landsverk, M., Zaki, M. S., Al-Maawali, A., Srinivasan, V. M., Al-Thihli, K., Schaefer, G. B., Davis, M., Tonduti, D., Doneda, C., Marten, L. M., Mühlhausen, C., Gomez, M., Lamantea, E., Mena, R. & 39 others, Nizon, M., Procaccio, V., Begtrup, A., Telegrafi, A., Cui, H., Schulz, H. L., Mohr, J., Biskup, S., Loos, M. A., Aráoz, H. V., Salpietro, V., Keppen, L. D., Chitre, M., Petree, C., Raymond, L., Vogt, J., Sawyer, L. B., Basinger, A. A., Pedersen, S. V., Pearson, T. S., Grange, D. K., Lingappa, L., McDunnah, P., Horvath, R., Cognè, B., Isidor, B., Hahn, A., Gripp, K. W., Jafarnejad, S. M., Østergaard, Elsebet, Prada, C. E., Ghezzi, D., Gowda, V. K., Taylor, R. W., Sonenberg, N., Houlden, H., Sissler, M., Varshney, G. K. & Maroofian, R., 2023, In: Genetics in Medicine. 25, 11, 15 p., 100938.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay

    Coci, E. G., Galesi, O., Morgan, T., Giglio, S., Østergaard, Elsebet & Elia, M., 2023, In: Cytogenetic and Genome Research. 162, 7, p. 365-371 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

    Barington, M., Dunø, M., Birkedal, U., Vissing, John, Born, A. P., Krag, T., Hansen, Thomas van Overeem & Østergaard, Elsebet, 2023, In: Neuromuscular Disorders. 33, 7, p. 539-545 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

    Undiagnosed Diseases Network, U. D. N., 2023, In: American Journal of Human Genetics. 110, 8, p. 1394-1413 20 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

    Amarasekera, S. S. C., Hock, D. H., Lake, N. J., Calvo, S. E., Grønborg, S. W., Krzesinski, E. I., Amor, D. J., Fahey, M. C., Simons, C., Wibrand, F., Mootha, V. K., Lek, M., Lunke, S., Stark, Z., Østergaard, Elsebet, Christodoulou, J., Thorburn, D. R., Stroud, D. A. & Compton, A. G., 2023, In: Human Molecular Genetics. 32, 15, p. 2441-2454 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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ID: 33970574