Publications
Journal Article (9)
1.
Journal Article
9 (12), (12):2617 (2021)
Virological and Parasitological Characterization of Mini-LEWE Minipigs Using Improved Screening Methods and an Overview of Data on Various Minipig Breeds. Microorganisms 2.
Journal Article
600, pp. 731 - 736 (2021)
ecDNA hubs drive cooperative intermolecular oncogene expression. Nature 3.
Journal Article
140, pp. 1459 - 1469 (2021)
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics 4.
Journal Article
108 (9), pp. 1725 - 1734 (2021)
Position effects at the FGF8 locus are associated with femoral hypoplasia. The American Journal of Human Genetics 5.
Journal Article
108 (5), pp. 857 - 873 (2021)
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. The American Journal of Human Genetics 6.
Journal Article
113 (7), pp. 546 - 559 (2021)
Single-cell profiling for advancing birth defects research and prevention. Birth Defects Research 7.
Journal Article
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)
8.
Journal Article
118 (2), e2014481118 (2021)
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Proceedings of the National Academy of Sciences of the United States of America 9.
Journal Article
23, pp. 661 - 668 (2021)
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. GENETICS IN MEDICINE Review Article (1)
10.
Review Article
3D or Not 3D: Shaping the Genome during Development. (2021)
Preprint (1)
11.
Preprint
Promoter repression and 3D-restructuring resolves divergent developmental gene expression in TADs. (2021)