Broad methodological interesse in the development and updating of genetic methodologies for the analysis of dried blood spot, the interest is for both research and diagnostic functions. Primary research interests are in bloodborne molecular phenotypes with a focus on RNA-sequencing and Methylation analysis of newborn dried blood spots and the perinatal life and its importance for the later development of neuropsychiatric and neurologicak disorders. Additionally with an interest in common and rare variants contribution for the development of diseases with congenital components.
Manager of neonatal genetics under Danish Center for Neonatal Screening, which is a part of biobank and biomarkers at statens serum institute. Neonatal genetics run the genetic part of the neonatal screening for entire Denmark. Additionally neonatal genetic participates in large international research projects such as iPSYCH, where we contribute analysis and specialist knowledge in relation to high capacity genetic meassurements
- Eilis Hannon, Diana Schendel, Christine Ladd-Acosta, …, Jonas Bybjerg-Grauholm, Abraham Reichenberg, Jonathan Mill (2018). Elevated polygenic burden for autism is associated with differential DNA methylation at birth. Genome medicine. https://doi.org/10.1186/s13073-018-0527-4
- Pedersen, C. B., Bybjerg-Grauholm, J., Pedersen, M. G., Grove, J., Agerbo, E., Bækvad-Hansen, M., … Mortensen, P. B. (2018). The iPSYCH2012 case-cohort sample: New directions for unravelling genetic and environmental architectures of severe mental disorders. Molecular Psychiatry. https://doi.org/10.1038/mp.2017.196
- Bybjerg-Grauholm, J., Hagen, C. M., Khoo, S. K., Johannesen, M. L., Hansen, C. S., Bækvad-Hansen, M., … Hollegaard, M. V. (2017). RNA sequencing of archived neonatal dried blood spots. Molecular Genetics and Metabolism Reports, 10, 33–37. https://doi.org/10.1016/j.ymgmr.2016.12.004
- Mads Vilhelm Hollegaard, Jonas Grauholm, Ronni Nielsen, Jakob Grove, Susanne Mandrup, David Michael Hougaard. (2013) Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing. https://doi.org/10.1016/j.ymgme.2013.06.004
- Hollegaard MV, Grauholm J, Børglum A, Nyegaard M, Nørgaard-Pedersen B, …, Hougaard DM. (2009) Genome-wide scans using archived neonatal dried blood spot samples. https://doi.org/10.1186/1471-2164-10-297