Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


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

  10. Published

    Basal molekylærgenetik

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

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

  11. Published

    Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

    Kaiyrzhanov, R., Mohammed, S. E. M., Maroofian, R., Husain, R. A., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Grønborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R. G., Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S., Bai, R. & 34 others, Bibi, F., Horga, A., Martinez-Agosto, J. A., Lam, A., Manole, A., Rodriguez, D. P., Durigon, R., Pyle, A., Albash, B., Dionisi-Vici, C., Murphy, D., Martinelli, D., Bugiardini, E., Allis, K., Lamperti, C., Reipert, S., Risom, L., Laugwitz, L., Di Nottia, M., McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, J. A., Bertini, E. S., Ghezzi, D., Østergaard, Elsebet, Wortmann, S. B., Carrozzo, R., Haack, T. B., Taylor, R. W., Spinazzola, A., Nowikovsky, K. & Houlden, H., 2022, In: American Journal of Human Genetics. 109, 9, p. 1692-1712 21 p.

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

  12. Published

    Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

    Magrinelli, F., Cali, E., Braga, V. L., Yis, U., Tomoum, H., Shamseldin, H., Raiman, J., Kernstock, C., Rezende Filho, F. M., Povoas Barsottini, O. G., Taylor, R. W., Ostergaard, E., Tamim, A., Schaeferhoff, K., Ferraz Sallum, J. M., Zaki, M. S., Kok, F., Bhatia, K. P., Wissinger, B., Sergeant, K. & 7 others, Haack, T. B., Horvath, R., Hiz, S., Alkuraya, F. S., Houlden, H., Pedroso, J. L. & Maroofian, R., 2022, In: Movement Disorders Clinical Practice. 9, 2, p. 218-228

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

  13. 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

  14. Published

    Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

    Boonen, S. E., Pörksen, S., Mackay, D. J., Østergaard, Elsebet, Olsen, B., Brøndum-Nielsen, K., Temple, I. K. & Hahnemann, J. M., 2008, In: European Journal of Human Genetics. 16, 4, p. 453-61 8 p.

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

  15. 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. & 37 others, 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 journal › Journal article › Research › peer-review

  16. 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

  17. Published

    Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

    Janssen, R. J. R. J., Distelmaier, F., Smeets, R., Wijnhoven, T., Østergaard, Elsebet, Jaspers, N. G. J., Raams, A., Kemp, S., Rodenburg, R. J. T., Willems, P. H. M. G., van den Heuvel, L. P. W. J., Smeitink, J. A. M. & Nijtmans, L. G. J., 2009, In: Human Molecular Genetics. 18, 18, p. 3365-74 9 p.

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

  18. Published

    Diagnostisk exomsekventering til udredning af syndromer

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

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

  19. Published

    Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease

    Zheng, W. Q., Pedersen, S. V., Thompson, K., Bellacchio, E., French, C. E., Munro, B., Pearson, T. S., Vogt, J., Diodato, D., Diemer, T., Ernst, A., Horvath, R., Chitre, M., Ek, J., Wibrand, F., Grange, D. K., Raymond, L., Zhou, X. L., Taylor, R. W. & Østergaard, Elsebet, 2022, In: Human Molecular Genetics. 31, 4, p. 523-534

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

  20. Published

    Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia

    Strandbech, O. S., Lund, Allan Meldgaard & Østergaard, Elsebet, 2021, In: JIMD Reports. 59, 1, p. 10-15

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

  21. Published

    Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

    Rafiq, J., Duno, M., Østergaard, Elsebet, Ravn, K., Vissing, C. R., Wibrand, F. & Vissing, John, 2016, JIMD Reports. Springer, Vol. 25. p. 65-70 (JIMD Reports).

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

  22. Published

    Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

    Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Ferilli, M., Fletcher, R. S., Cherick, F., Foroutan, A. & 72 others, Friez, M. J., Gervasini, C., Haghshenas, S., Hilton, B. A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, Elsebet, Pallares, N. R., Piccione, M., Plomp, A. S., Poulton, C., Reilly, J., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., John, M. S., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T. B., Banka, S., Gecz, J., Henneman, P., Lee, J. A., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Campion, D., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Heron, D., Husson, T., Kernohan, K. D., McNeill, A., Menke, L. A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vincent, M., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L. & Sadikovic, B., 2022, In: Human Mutation. 43, 11, p. 1609-1628

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

  23. Published

    Genetisk variation

    Pedersen, Inge Søkilde & Østergaard, Elsebet, 2022, Medicinsk genetik. 3 ed. FADL's Forlag, p. 67-97

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

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

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

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