Publications
Journal Article (391)
1.
Journal Article
2022, 14, p. 1 (2022)
Cell adhesion and immune response, two main functions altered in the transcriptome of seasonally regressed testes of two mammalian species. Journal of Experimental Zoology Part B-Molecular and Developmental Evolution 2.
Journal Article
23 (8), 4369 (2022)
3D Visualization of Human Blood Vascular Networks Using Single-Domain Antibodies Directed against Endothelial Cell-Selective Adhesion Molecule (ESAM). International Journal of Molecular Sciences 3.
Journal Article
23, 67 (2022)
TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs. Genome Biology 4.
Journal Article
15 (3), pp. 421 - 433 (2022)
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. Autism Research 5.
Journal Article
2022 (2022)
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome). Journal of Human Genetics 6.
Journal Article
5 (1), (1):2 (2022)
Electron microscopy analysis of ATP-independent nucleosome unfolding by FACT. Communications Biology 7.
Journal Article
82, pp. 1 - 19 (2022)
Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus. Molecular Cell 8.
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 9.
Journal Article
2021, awab446 (2021)
Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state. Brain 10.
Journal Article
600, pp. 731 - 736 (2021)
ecDNA hubs drive cooperative intermolecular oncogene expression. Nature 11.
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 12.
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 13.
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 14.
Journal Article
113 (7), pp. 546 - 559 (2021)
Single-cell profiling for advancing birth defects research and prevention. Birth Defects Research 15.
Journal Article
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)
16.
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 17.
Journal Article
23, pp. 661 - 668 (2021)
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. GENETICS IN MEDICINE 18.
Journal Article
2020, 10: 22142 (2020)
Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza. Scientific Reports 19.
Journal Article
2020 (11), 11:5823 (2020)
Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications 20.
Journal Article
370 (6518), eaba7721 (2020)
A human cell atlas of fetal gene expression. Science