Publications of Stefan Mundlos
All genres
Journal Article (266)
1.
Journal Article
5 (1), 102859 (2024)
Protocol for chromatin accessibility profiling of human endothelial cells cultured under fluid shear stress using ATAC-seq. STAR Protocols 2.
Journal Article
Whole genome sequencing in families with oligodontia. Oral Diseases (2023)
3.
Journal Article
7 (21), pp. 6520 - 6531 (2023)
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology. Blood Advances 4.
Journal Article
26 (9), 107405 (2023)
Fluid shear stress-modulated chromatin accessibility reveals the mechano-dependency of endothelial SMAD1/5-mediated gene transcription. iScience 5.
Journal Article
12 (15), 2001 (2023)
Doxorubicin Changes the Spatial Organization of the Genome around Active Promoters. Cells 6.
Journal Article
45, 2300010 (2023)
Disruption of regulatory domains and novel transcripts as disease-causing mechanisms. BioEssays 7.
Journal Article
14 (1), 2034 (2023)
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature Communications 8.
Journal Article
14, 1475 (2023)
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3. Nature Communications 9.
Journal Article
614, pp. 564 - 571 (2023)
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 10.
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)
11.
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 12.
Journal Article
185 (20), pp. 3689 - 3704 (2022)
Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes. Cell 13.
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 14.
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 15.
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 16.
Journal Article
2022, 14 (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 17.
Journal Article
23, 67 (2022)
TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs. Genome Biology 18.
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 19.
Journal Article
67, pp. 405 - 410 (2022)
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome). Journal of Human Genetics 20.
Journal Article
82 (1), pp. 190 - 208 (2022)
Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus. Molecular Cell