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