Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


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  1. Published

    Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family

    Dad, S., Østergaard, Elsebet, Wadt, K., Lunding, J., Eiberg, Hans Rudolf Lytchoff & Møller, L., Apr 2014, In: Clinical Genetics. 85, 4, p. 390-392 3 p.

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

  2. Published

    Kromosomsygdomme

    Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 423-430

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education

  3. Published

    Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling

    Grønborg, S., Darin, N., Miranda, Maria J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, Elsebet, 2016, JIMD Reports. Vol. 33. p. 69-77 9 p. (JIMD Reports).

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

  4. Published

    Medicinsk genetik

    Sunde, Lone (ed.) & Østergaard, Elsebet (ed.), 2022, 3 ed. FADL's Forlag.

    Research output: Book/Report › Anthology › Communication

  5. Published

    Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics

    du Mee, D. J. M., Bak, M., Østergaard, Elsebet & Rasmussen, Lene Juel, 2020, In: Mitochondrion. 53, p. 255-259

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

  6. Published

    Mitokondriesygdomme

    Duno, M. & Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 385-392

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education

  7. 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

  8. 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

  9. Published

    Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

    Østergaard, Elsebet, Weraarpachai, W., Ravn, K. J. T., Born, A. P., Jønson, L., Dunø, M., Wibrand, F., Shoubridge, E. A. & Vissing, John, Mar 2015, In: Journal of Medical Genetics. 52, 3, p. 203-7 5 p.

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

  10. Published

    Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

    Grønskov, K., Dooley, C. M., Østergaard, Elsebet, Kelsh, R. N., Hansen, Lars, Levesque, M. P., Vilhelmsen, K., Møllgård, Kjeld, Stemple, D. L. & Rosenberg, T., 7 Mar 2013, In: American Journal of Human Genetics. 92, 3, p. 415-21 7 p.

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

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