Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor


  1. 2020
  2. Accepted/In press

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

    du Mee, Dorine Jeanne Mariëtte, Bak, Mads, Østergaard, Elsebet & Rasmussen, Lene Juel, 2020, (Accepted/In press) In : Mitochondrion.

    Research output: Contribution to journalLetterResearchpeer-review

  3. 2019
  4. Published

    Genotype and phenotype classification of 29 patients affected by Krabbe disease

    Madsen, A. M. H., Wibrand, F., Lund, A. M., Ek, J., Dunø, M. & Østergaard, Elsebet, Mar 2019, In : JIMD Reports. 46, 1, p. 35-45 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 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 articleResearchpeer-review

  6. Published

    Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

    Gerdes, Anne-Marie Axø, Risom, L., Kjærgaard, S. & Østergaard, Elsebet, 2019, In : Ugeskrift for Laeger. 181, 7A, 5 p., V11180756.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 2018
  8. 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 articleResearchpeer-review

  9. 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 articleResearchpeer-review

  10. Published

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Repp, B. M., Mastantuono, E., Alston, C. L., Schiff, M., Haack, T. B., Rötig, A., Ardissone, A., Lombès, A., Catarino, C. B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D., Wenhong, D., Lamantea, E., Østergaard, Elsebet, Pronicka, E., Pierre, G., Smeets, H. J. M., Wittig, I., Scurr, I., de Coo, I. F. M., Moroni, I., Smet, J., Mayr, J. A., Dai, L., de Meirleir, L., Schuelke, M., Zeviani, M., Morscher, R. J., McFarland, R., Seneca, S., Klopstock, T., Meitinger, T., Wieland, T., Strom, T. M., Herberg, U., Ahting, U., Sperl, W., Nassogne, M., Ling, H., Fang, F., Freisinger, P., Van Coster, R., Strecker, V., Taylor, R. W., Häberle, J., Vockley, J., Prokisch, H. & Wortmann, S., 2018, In : Orphanet Journal of Rare Diseases. 13, 10 p., 120.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

    Sofou, K., de Coo, I. F. M., Østergaard, Elsebet, Isohanni, P., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., Lönnqvist, T., Bindoff, L. A., Tulinius, M. & Darin, N., 2018, In : Journal of Medical Genetics. 55, 1, p. 21-27 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. 2017
  13. 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., Østergaard, Elsebet, 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. & 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 articleResearchpeer-review

  14. Published

    Diagnostisk exomsekventering til udredning af syndromer

    Østergaard, Elsebet, Risom, L., Ek, J., Grønborg, S., Dunø, M. & Skovby, Flemming, 2017, In : Ugeskrift for Læger. 179, 5 p., V10160762.

    Research output: Contribution to journalJournal articleResearchpeer-review

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