Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


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  1. 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

  2. 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

  3. 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

  4. 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

  5. Published

    The impact of gender, puberty, and pregnancy in patients with POLG disease

    Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M. E., Samsonsen, C., Brodtkorb, E., Østergaard, Elsebet, de Coo, R., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S. & Bindoff, L. A., 2020, In: Annals of Clinical and Translational Neurology. 7, 10, p. 2019-2025 7 p.

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

  6. 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

  7. 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

  8. Published

    Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

    Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., Woldseth, B., Prontera, P., Batbayli, M., Ravn, K., Joensen, F., Cordelli, D. M., Santorelli, F. M., Tulinius, M., Darin, N., Duno, M. & 14 others, Jouvencel, P., Burlina, A., Stangoni, G., Bertini, E., Redonnet-Vernhet, I., Wibrand, F., Dionisi-Vici, C., Uusimaa, J., Vieira, P., Osorio, A. N., McFarland, R., Taylor, R. W., Holme, E. & Østergaard, Elsebet, Mar 2016, In: Journal of Inherited Metabolic Disease. 39, 2, p. 243-52 10 p.

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

  9. Published

    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

    Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M. E., Brodtkorb, E., Østergaard, Elsebet, de Coo, I. F. M., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S. & Bindoff, L. A., 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 726-736 11 p.

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

  10. Published

    Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients

    Thomsen, L. L., Østergaard, Elsebet, Bjornsson, A., Stefansson, H., Fasquel, A. C., Gulcher, J., Stefansson, K. & Olesen, J., 2008, In: Cephalalgia. 28, 9, p. 914-921 7 p.

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

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ID: 33970574