Research output per year
Research output per year
Personal profile
Expertises
Mitochondrial disorders; novel disease gene identification; exome sequencing
Main research areas
Mitochondrial disorders; novel disease gene identification; exome sequencing
Current research
The main focus of my research in mitochondrial disorders is to identify novel nuclear genetic causes. I use exome sequencing to identify variants and methods such as blue native PAGE and functional complementation to assess the pathogenicity of variants. I also participate in a Nordic/Dutch/Belgian collaboration, MCRN, on clinical findings in mitochondrial disorders.
I am also interested in using exome and genome sequencing for disease gene identification in the diagnosis of patients with unsolved syndromes including intellectual disabilities.
Potential conflicts of interest
None
Fingerprint
Dive into the research topics where Elsebet Østergaard is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay
Coci, E. G., Galesi, O., Morgan, T., Giglio, S., Ostergaard, E. & Elia, M., 9 Feb 2023, (E-pub ahead of print) In: Cytogenetic and Genome Research. p. 1-7 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
-
Microvillus Inclusion Disease Caused by MYO5B: Different Presentation and Phenotypes Despite Same Mutation
Andreassen, B. U., Aunsholt, L., Østergaard, E., Ek, J., Maroun, L. L. & Jørgensen, M. H., May 2023, In: JPGN reports. 4, 2, p. e309Research output: Contribution to journal › Journal article › Research › peer-review
-
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
Amarasekera, S. S. C., Hock, D. H., Lake, N. J., Calvo, S. E., Grønborg, S. W., Krzesinski, E. I., Amor, D. J., Fahey, M. C., Simons, C., Wibrand, F., Mootha, V. K., Lek, M., Lunke, S., Stark, Z., Østergaard, E., Christodoulou, J., Thorburn, D. R., Stroud, D. A. & Compton, A. G., 3 May 2023, (E-pub ahead of print) In: Human Molecular Genetics.Research output: Contribution to journal › Journal article › Research › peer-review
-
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency
Arribas-Carreira, L., Dallabona, C., Swanson, M. A., Farris, J., Østergaard, E., Tsiakas, K., Hempel, M., Aquaviva-Bourdain, C., Koutsoukos, S., Stence, N. V., Magistrati, M., Spector, E. B., Kronquist, K., Christensen, M., Karstensen, H. G., Feichtinger, R. G., Achleitner, M. T., Lawrence Merritt, J., Pérez, B., Ugarte, M., & 11 others, 6 Mar 2023, In: Human Molecular Genetics. 32, 6, p. 917-933 17 p.Research output: Contribution to journal › Journal article › Research › peer-review
-
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Björkman, K., Vissing, J., Østergaard, E., 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., Jan 2023, In: Journal of Medical Genetics. 60, 1, p. 65-73 9 p.Research output: Contribution to journal › Journal article › Research › peer-review