Novel MYL1 Intron Variant With Expanded Phenotype

Barington, M., Balslev-Harder, M., Krag, T., Hansen, T. V. O., Wulff, C. B., Lausten‐Thomsen, U., Hjortshøj, T. D. & Østergaard, E., 2026, In: American Journal of Medical Genetics, Part A. 200, 6, p. 1378-1383

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

Systematic Review on Genetic Variants in Children With Cerebral Palsy

Pedersen, S. V., Sørensen, J. K., Fabricius, R., Dunø, M., Larsen, M. L., Høi-Hansen, C. E. & Østergaard, E., 2026, In: Acta Pædiatrica. 115, 4, p. 772-790

Research output: Contribution to journal › Review › peer-review

Viral infection and brain inflammation with seizures in PARK7 deficiency

Lønskov, J., Sünderhauf, A., Andersen, S., Jeppesen, C. B., Winzig, F., Hinke, D. M., Heinz, J. L., Thomsen, K., Thorup, M. B., Zillinger, T., Bundgaard, B., De Keukeleere, K., Jørgensen, S. E., Ek, J., Østergaard, E., Christensen, J., Handrup, M. M., van der Sluis, R. M. & Mogensen, T. H., 2026, In: Journal of human immunity. 2, 2, 18 p., e20250044.

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

A diagnostic algorithm for inherited metabolic disorders using untargeted metabolomics

Gao, Q., Khan, A., Christensen, M., Zhou, X., Lund, A., Grønborg, S. W., Wibrand, F., Østergaard, E. & Moritz, T., 2025, In: Metabolomics : Official journal of the Metabolomic Society. 21, 4, 10 p., 101.

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

A Novel UPF1 Variant Associated With a Rare UPF1-Related Neurodevelopmental Disorder

Tümer, Z., Dalsberg, J., Rønde, G., Sørensen, J. K. & Østergaard, E., 2025, In: Clinical Genetics. 108, 3, p. 313-317 5 p.

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

Diagnostic yield of whole exome sequencing in a cohort of 825 patients

Andersen, P. F., Ek, J., Karstensen, H. G., Bak, M., Gronborg, S. W., Hove, H. B., Diness, B., Hjortshoj, T. D., Hammer, T. B., Hoi-Hansen, C., Schonewolf-Greulich, B., Bisgaard, A.-M., Duno, M. & Ostergaard, E., 2025, In: European Journal of Medical Genetics. 78, 8 p., 105043.

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

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

Alcázar-Fabra, M., Østergaard, E., Fernández-Ayala, D. J. M., Desbats, M. A., Morbidoni, V., Tomás-Gallado, L., García-Corzo, L., Blanquer-Roselló, M. D. M., Bartlett, A. K., Sánchez-Cuesta, A., Sena, L., Cortés-Rodríguez, A., Cascajo-Almenara, M. V., Pagliarini, D. J., Trevisson, E., Gronborg, S. W. & Brea-Calvo, G., 2025, In: Molecular Genetics and Metabolism Reports. 42, 12 p., 101176.

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

Liver Involvement in POLG Disease—a Multicentre Cohort Study of 202 Patients

Kristensen, E., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Brodtkorb, E., Ostergaard, E., de Coo, I., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Majamaa, K., Kärppä, M., Martikainen, M. H., Ortigoza-Escobar, J. D., Tangeraas, T., Berland, S., Sue, C. M., Walker, J. S. & Harrison, E. & 5 others, Biggs, H., Horvath, R., Darin, N., Rahman, S. & Hikmat, O., 2025, In: Journal of Inherited Metabolic Disease. 48, 6, 13 p., e70112.

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