In my professional career, I have been working in the field of rare and complex human disease genetics. I have been mostly involved in the application of high-throughput sequencing approaches for clinical diagnostics and research.

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Currently, my work is focused on diagnostics based on exome, genome and RNA sequencing. I am particularly enthusiastic about finding novel approaches to improve genome-level clinical variant interpretation, create resources of national variation and to increase use of data sharing to facilitate the diagnosis of rare genetic disorders.

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I am also interested in the application of novel computational approaches to improve the diagnosis and novel gene discovery.

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Since 2002, I have been involved in various research projects in the fields of rare and complex genetic disorders, neurodegenerative disorders and immune disorders.