Publikationer pr. år
Publikationer pr. år
Publikationer pr. år
Mitochondrial disorders; novel disease gene identification; exome sequencing
Mitochondrial disorders; novel disease gene identification; exome sequencing
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.
None
Københavns Universitet
2005 → …
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review