Elsebet Østergaard

Clinical Associate Professor

Department of Clinical Medicine
Blegdamsvej 3
2200 København N.
- elsebet.oestergaard.01@regionh.dk
Phone: +4535451299

Member of:

Clinical Genetics

Publication year:

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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, Thorarensen, Ó., Ulmen, U., Coene, K. L. M., Willemsen, M. A., Lefeber, D. J. & Karnebeek, C. D. M. V., 2021, In: Frontiers in Neurology. 12, 668640.
Research output: Contribution to journal › Journal article › Research › peer-review
Accepted/In press
Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome
Barington, M., Bak, M., Kjartansdóttir, K. R., Hansen, Thomas van Overeem, Birkedal, U., Østergaard, Elsebet & Hove, H. B., 2024, (Accepted/In press) In: American Journal of Medical Genetics, Part A.
Research 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, 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
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
Published
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Björkman, K., Vissing, John, Østergaard, Elsebet, Bindoff, L. A., de Coo, I. F. M., Engvall, M., Hikmat, O., Isohanni, P., Kollberg, G., Lindberg, C., Majamaa, K., Naess, K., Uusimaa, J., Tulinius, M. & Darin, N., 2023, In: Journal of Medical Genetics. 60, 1, p. 65-73 9 p.
Research output: Contribution to journal › Journal article › Research › peer-review
Published
Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report
Guldberg, Frederikke, Larsen, C. C., Østergaard, Elsebet, Carlsen, Jonathan Frederik, Juhler, Marianne & Munch, Tina Nørgaard, 2024, In: Child's Nervous System. 40, 3, p. 947-951 5 p.
Research output: Contribution to journal › Journal article › Research › peer-review
Published
Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes
Duchatelet, S., Østergaard, Elsebet, Cortes, Dina, Lemainque, A. & Julier, C., 1 Jan 2005, In: Human Molecular Genetics. 14, 1, p. 1-5 5 p.
Research output: Contribution to journal › Journal article › Research › peer-review
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
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
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