Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 10 out of 57Page size: 10
  1. 2024
  2. 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 journal › Journal article › Research › peer-review

  3. 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 journal › Journal article › Research › peer-review

  4. 2023
  5. 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 journal › Journal article › Research › peer-review

  6. 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 journal › Journal article › Research › peer-review

  7. 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 journal › Journal article › Research › peer-review

  8. 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 journal › Journal article › Research › peer-review

  9. 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 journal › Journal article › Research › peer-review

  10. 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 journal › Journal article › Research › peer-review

  11. Published

    Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

    Björkman, K., Vissing, John, Østergaard, Elsebet, Bindoff, L. A., de Coo, I. F. M., Engvall, M., Hikmat, O., Isohanni, P., Kollberg, G., Lindberg, C., Majamaa, K., Naess, K., Uusimaa, J., Tulinius, M. & Darin, N., 2023, In: Journal of Medical Genetics. 60, 1, p. 65-73 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  12. Published

    The postgraduate medical educational climate assessed by the Danish Residency Educational Climate Test (DK-RECT): a validation and cross-sectional observational study

    Jacobsen, Rikke Vita Borre, Boor, K., Christensen, Karl Bang, Ung, V. H., Carlsen, Jørn, Kirk, Ole, Dziegiel, Morten Hanefeld, Østergaard, Elsebet, Rochat, Per Bjørnstad, Albrecht-Beste, Elisabeth, Droogh, M., Lapperre, T. S., Scheele, F. & Sorensen, Jette Led , 2023, In: BMC Medical Education. 23, 1, 13 p., 943.

    Research output: Contribution to journal › Journal article › Research › peer-review

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ID: 33970574