Professor, dr.med., Professor
Blegdamsvej 3, Building: 22.4.28
2200 2200 København N
Medical Genetics Program
Panum, Building: 18.3.06
2200 København N
Primary fields of research
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