Signe Mosegaard

  1. 2022
  2. Published

    Clinical implementation of RNA sequencing for Mendelian disease diagnostics. / Yépez, Vicente A.; Gusic, Mirjana; Kopajtich, Robert et al.

    In: Genome Medicine, Vol. 14, No. 1, 38, 04.2022.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  3. 2021
  4. Published

    Variants in the Ethylmalonyl-CoA Decarboxylase (ECHDC1) Gene; a Novel Player in Ethylmalonic Aciduria? / Fogh, Sarah; Dipace, Graziana; Bie, Anne et al.

    In: Journal of Inherited Metabolic Disease, Vol. 44, No. 5, 09.2021, p. 1215-1225.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  5. 2020
  6. Published

    Riboflavin deficiency—implications for general human health and inborn errors of metabolism. / Mosegaard, Signe; Dipace, Graziana; Bross, Peter et al.

    In: International Journal of Molecular Sciences , Vol. 21, No. 11, 3847, 06.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  7. 2019
  8. Published

    Challenging transitions. / Wasalathanthri, Niluka D.; Zaidi, Syed Shan E.Ali; Mahrt, Elena et al.

    In: Science, Vol. 363, No. 6422, 2019, p. 24-26.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperLetterpeer-review

  9. Published

    FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. / Muru, Kai; Reinson, Karit; Künnapas, Kadi et al.

    In: Molecular Genetics and Genomic Medicine, Vol. 7, No. 9, e915, 2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  10. 2018
  11. Published

    FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts. / García-Villoria, Judit; De Azua, Begoña; Tort, Frederic et al.

    In: Clinical Genetics, Vol. 94, No. 6, 12.2018, p. 592-593.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debate/letter to the editorResearchpeer-review

  12. 2017
  13. Published

    An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. / Mosegaard, Signe; Bruun, Gitte Hoffmann; Flyvbjerg, Karen Freund et al.

    In: Molecular Genetics and Metabolism, Vol. 122, No. 4, 12.2017, p. 182-188.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  14. Published

    Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy. / Auranen, M.; Paetau, A.; Piirila, P. et al.

    In: Neuromuscular Disorders, Vol. 27, No. 6, 06.2017, p. 581-584.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  15. 2016
  16. Published

    Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. / Olsen, Rikke K J; Koňaříková, Eliška; Giancaspero, Teresa A et al.

    In: American Journal of Human Genetics, Vol. 98, No. 6, 02.06.2016, p. 1130-45.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  17. 2013
  18. Published

    Locus heterogeneity in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. / Mosegaard, Signe; Olpin, SE; Sharrard, MJ et al.

    2013. Poster session presented at 12th International congress of inborn errors of metabolism, Barcelona, Spain.

    Research output: Contribution to conferencePosterCommunication