Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


  1. Published

    SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

    Gut, P., Matilainen, S., Meyer, J. G., Pällijeff, P., Richard, J., Carroll, C. J., Euro, L., Jackson, C. B., Isohanni, P., Minassian, B. A., Alkhater, R. A., Østergaard, E., Civiletto, G., Parisi, A., Thevenet, J., Rardin, M. J., He, W., Nishida, Y., Newman, J. C., Liu, X. & 6 others, Christen, S., Moco, S., Locasale, J. W., Schilling, B., Suomalainen, A. & Verdin, E., 2020, In: Nature Communications. 11, 1, 5927.

    Research output: Contribution to journalJournal articlepeer-review

  2. Published

    A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

    Grønborg, S., Risom, L., Ek, J., Larsen, Karen Bonde, Scheie, David, Petkov, Y., Larsen, V. A., Dunø, M., Joensen, F. & Østergaard, Elsebet, 2018, In: European Journal of Human Genetics. 26, 10, p. 1512-1520 9 p.

    Research output: Contribution to journalJournal articlepeer-review

  3. Published

    A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

    Altaraihi, M., Wadt, Karin Anna Wallentin, Ek, J., Gerdes, Anne-Marie Axø & Østergaard, Elsebet, 2019, In: Human Genome Variation. 6, 1, 10.

    Research output: Contribution to journalJournal articlepeer-review

  4. Published

    A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood

    Born, A. P., Duno, M., Rafiq, J., Risom, L., Wibrand, F., Østergaard, Elsebet & Vissing, John, Jan 2015, In: European Journal of Paediatric Neurology. 19, 1, p. 69-71 3 p.

    Research output: Contribution to journalJournal articlepeer-review

  5. Published

    A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

    Lundquist, A. A., Farholt, S., Børresen, M. L., Dunø, M., Wibrand, F., Witting, N. & Østergaard, Elsebet, 2021, In: European Journal of Medical Genetics. 64, 10, 7 p., 104306.

    Research output: Contribution to journalJournal articlepeer-review

  6. Published

    A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses

    Alstrup, M., Vogel, I., Sandager, P., Blechingberg, J., Becher, N. & Østergaard, Elsebet, 2021, In: JIMD Reports. 59, 1, p. 20-25

    Research output: Contribution to journalJournal articlepeer-review

  7. Published

    A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

    Østergaard, Elsebet, Schwartz, M., Batbayli, M., Christensen, E., Hjalmarson, O., Kollberg, G. & Holme, E., 1 Feb 2010, In: European Journal of Pediatrics. 169, 2, p. 201-5 5 p.

    Research output: Contribution to journalJournal articlepeer-review

  8. Published

    A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder

    Barington, M., Risom, L., Ek, J., Uldall, P. & Østergaard, Elsebet, 2018, In: European Journal of Human Genetics. 26, 9, p. 1388-1391 4 p.

    Research output: Contribution to journalJournal articlepeer-review

  9. Published

    A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

    Pronicka, E., Ropacka-Lesiak, M., Trubicka, J., Pajdowska, M., Linke, M., Ostergaard, E., Saunders, C., Horsch, S., van Karnebeek, C., Yaplito-Lee, J., Distelmaier, F., Õunap, K., Rahman, S., Castelle, M., Kelleher, J., Baris, S., Iwanicka-Pronicka, K., Steward, C. G., Ciara, E., Wortmann, S. B. & 1 others, Additional individual contributors, A. I. C., Nov 2017, In: Journal of Inherited Metabolic Disease. 40, 6, p. 853-860 8 p.

    Research output: Contribution to journalJournal articlepeer-review

  10. Published

    Basal molekylærgenetik

    Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 15-48

    Research output: Chapter in Book/Report/Conference proceedingBook chapterCommunication

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