Elsebet Østergaard
Clinical Associate Professor
- 2020
- Published
Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics
du Mee, D. J. M., Bak, M., Østergaard, Elsebet & Rasmussen, Lene Juel, 2020, In: Mitochondrion. 53, p. 255-259Research output: Contribution to journal › Journal article › Research › peer-review
- 2021
- 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. 20-25Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- 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. 10-15Research output: Contribution to journal › Journal article › Research › peer-review
- Published
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
den Hollander, B., Rasing, A., Post, M. A., Klein, W. M., Oud, M. M., Brands, M. M., de Boer, L., Engelke, U. F. H., van Essen, P., Fuchs, S. A., Haaxma, C. A., Jensson, B. O., Kluijtmans, L. A. J., Lengyel, A., Lichtenbelt, K. D., Østergaard, E., Peters, G., Salvarinova, R., Simon, M. E. H., Stefansson, K. & 6 others, , 2021, In: Frontiers in Neurology. 12, 668640.Research output: Contribution to journal › Journal article › Research › peer-review
- 2022
- Published
Mitokondriesygdomme
Duno, M. & Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 385-392Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education
- 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, , 2022, In: American Journal of Human Genetics. 109, 9, p. 1692-1712 21 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 266-282Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2022, In: Human Mutation. 43, 11, p. 1609-1628Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 13 Jan 2022, In: Human Genetics and Genomics Advances. 3, 1, 18 p., 100075.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 33970574
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Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations
Research output: Contribution to journal › Journal article › Research › peer-review
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135
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A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Research output: Contribution to journal › Journal article › Research › peer-review
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71
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Research output: Contribution to journal › Journal article › Research › peer-review
Published