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Central Region, Denmark Denmark

Associate professor at Aarhus University

Education

I am a molecular geneticist. My main interest is the human genome, with focus on genetic variation and its consequence for phenotype. I work in the interface between wet-lab and bioinformatics, and have expertise with gene mapping in both rare Mendelian diseases and common complex disorders. Key technologies used are linkage analysis, genome-wide association studies, exome sequencing, genotyping, mutation screening, DNA methylation, qPCR and RNAseq. Previous work in the field of monogenic diseases include the identification of a new disease gene for sudden cardiac death (CALM1), Seckel syndrome (RBBP8), and non-syndromic hearing loss (CD164). Also, new mutations in known disease genes...