Professor, dr.med., Professor
Blegdamsvej 3, Bygning: 22.4.28
2200 2200 København N
Medical Genetics Program
Panum, Bygning: 22.4.28
2200 København N
Identification of disease genes and dissection of genomic topological associating domains (TADs) and genomic and nuclear organization by whole genome sequencing based mapping of constitutional chromosomal translocations/inversions, with a special focus on brain disorders and cognitive comorbidities. Characterization of germline chromothripsis. Integration of gene expression/function/biological pathways during normal and abnormal fetal development, Functional studies of non-coding RNA genes.
The ongoing projects include the establishment of risk and guidelines for prenatally diagnosed de novo balanced translocations/inversions. Defining high-risk TADs for long-range-position effects of chromosomal breakpoints, as a window into the developmental regulome, with a speciel focus on reglulatory dysfunction in intellectual disability, autism, epilepsy, narcolepsy, dyslexia and congenital brain malformations. Studies of germline chromothripsis associated with complex translocations/inversions, and in cellular model systems. Linking anatomical variation to genetic variation. Development of methods for visualization of nuclear genome organization. Coordinator of International Breakpoint Mapping Consortium (2014-), involving >150 diagnostic cytogenetic laboratories from >50 countries/6 continents.
329 published/accepted peer reviewed publications,
>21,000 citations -- h-index: 67