Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


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  1. 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

  2. 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

  3. 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

  4. Published

    Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations

    Kacso, G., Ravasz, D., Doczi, J., Németh, B., Madgar, O., Saada, A., Ilin, P., Miller, C., Ostergaard, E., Iordanov, I., Adams, D., Vargedo, Z., Araki, M., Araki, K., Nakahara, M., Ito, H., Gál, A., Molnár, M. J., Nagy, Z., Patocs, A. & 2 others, Adam-Vizi, V. & Chinopoulos, C., 15 Oct 2016, In: Biochemical Journal. 473, 20, p. 3463-3485 23 p.

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

  5. 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

  6. Published

    The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

    Kumble, S. & Undiagnosed Diseases Network, U. D. N., 2022, In: Human Mutation. 43, 2, p. 266-282

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

  7. Published

    Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient

    Kusk, M. S., Damgaard, B., Risom, L., Hansen, B. & Østergaard, Elsebet, Oct 2016, In: Neuropediatrics. 47, 5, p. 332-335 4 p.

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

  8. Published

    The susceptibility of dental plaque bacteria to the herbs included in Longo Vital®

    Larsen, Tove, Fiehn, Nils-Erik & Østergaard, Elsebet, 1 May 1996, In: Microbial Ecology in Health and Disease. 9, 3, p. 91-95 5 p.

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

  9. 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

  10. Published

    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., Haghshenas, S., Hilton, B. A. & 66 others, 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., Pizzi, S., Plomp, A. S., Poulton, C., Reilly, J., Relator, R., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., St John, M., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T., 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., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Kerrnohan, K. D., McNeill, A., Menke, L. A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L. & Sadikovic, B., 13 Jan 2022, In: Human Genetics and Genomics Advances. 3, 1, 18 p., 100075.

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

  11. 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

  12. 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

  13. 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

  14. Published

    The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

    Ng, Y. S., Alston, C. L., Diodato, D., Morris, A. D., Ulrick, N., Kmoch, S., Houštěk, J., Martinelli, D., Haghighi, A., Atiq, M., Gamero, M. A., Garcia-Martinez, E., Kratochvílová, H., Santra, S., Brown, R. M., Brown, G. K., Ragge, N., Monavari, A., Pysden, K., Ravn, K. & 14 others, Casey, J. P., Khan, A., Chakrapani, A., Vassallo, G., Simons, C., McKeever, K., O'Sullivan, S., Childs, A., Østergaard, Elsebet, Vanderver, A., Goldstein, A., Vogt, J., Taylor, R. W. & McFarland, R., Nov 2016, In: Journal of Medical Genetics. 53, 11, p. 768-775

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

  15. 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

  16. Published

    Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

    Parasyri, M., Brandstroem, P., Uusimaa, J., Østergaard, Elsebet, Hikmat, O., Isohanni, P., Naess, K., de Coo, I. F. M., Nascimento Osorio, A., Nuutinen, M., Lindberg, C., Bindoff, L. A., Tulinius, M., Darin, N. & Sofou, K., 2022, In: Kidney diseases. 8, 2, 12 p.

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

  17. 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

  18. 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

  19. 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

  20. Published

    Hearing impairment and renal failure associated with RMND1 mutations

    Ravn, K., Neland, M., Wibrand, F., Duno, M. & Østergaard, Elsebet, Jan 2016, In: American Journal of Medical Genetics. Part A. 170, 1, p. 142-147 6 p.

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

  21. 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

  22. 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

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

  24. 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

  25. Published

    Medicinsk genetik

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

    Research output: Book/Report › Anthology › Communication

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