Publications
Journal Article (411)
1.
Journal Article
12 (15), 2001 (2023)
Doxorubicin Changes the Spatial Organization of the Genome around Active Promoters. Cells 2.
Journal Article
26 (9), 107405 (2023)
Fluid shear stress-modulated chromatin accessibility reveals the mechano-dependency of endothelial SMAD1/5-mediated gene transcription. iScience 3.
Journal Article
45, 2300010 (2023)
Disruption of regulatory domains and novel transcripts as disease-causing mechanisms. BioEssays 4.
Journal Article
14, 1184015 (2023)
Altered hair root gene expression profiles highlight calcium signaling and lipid metabolism pathways to be associated with curly hair initiation and maintenance in Mangalitza pigs. Frontiers in Genetics 5.
Journal Article
14, 2034 (2023)
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature Communications 6.
Journal Article
14, 1475 (2023)
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3. Nature Communications 7.
Journal Article
614, pp. 564 - 571 (2023)
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 8.
Journal Article
28, pp. 668 - 697 (2023)
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry 9.
Journal Article
10 (12), 3148 (2022)
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines 10.
Journal Article
13 (1), 6570 (2022)
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications 11.
Journal Article
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies. American Journal of Medical Genetics Part A, 62994 (2022)
12.
Journal Article
13, 6470 (2022)
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature Communications 13.
Journal Article
Co-option of the transcription factor SALL1 in mole ovotestis formation. bioRxiv, 514220 (2022)
14.
Journal Article
185 (20), e21, pp. 3689 - 3704 (2022)
Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes. Cell 15.
Journal Article
24 (9), pp. 1927 - 1940 (2022)
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. GENETICS IN MEDICINE 16.
Journal Article
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. GENETICS IN MEDICINE, S1098-3600(22)00849-8 (2022)
17.
Journal Article
38, pp. 3871 - 3876 (2022)
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise. Bioinformatics 18.
Journal Article
23, 564 (2022)
Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs. BMC Genomics 19.
Journal Article
35 (1), ivac159 (2022)
Different ascending aortic phenotypes with similar mutations in two patients with Loeys-Dietz-Syndrome type 2. Interactive CardioVascular and Thoracic Surgery 20.
Journal Article
107 (7), pp. e3048 - e3057 (2022)
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. Journal of Clinical Endocrinology and Metabolism