Publications of Stefan Mundlos
All genres
Journal Article (256)
1.
Journal Article
14, 2034 (2023)
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature Communications 2.
Journal Article
614, pp. 564 - 571 (2023)
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 3.
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)
4.
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 5.
Journal Article
185 (20), e21, pp. 3689 - 3704 (2022)
Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes. Cell 6.
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 7.
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 8.
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 9.
Journal Article
23, 67 (2022)
TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs. Genome Biology 10.
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 11.
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 12.
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 13.
Journal Article
600, pp. 731 - 736 (2021)
ecDNA hubs drive cooperative intermolecular oncogene expression. Nature 14.
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 15.
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 16.
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 17.
Journal Article
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)
18.
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 19.
Journal Article
2020 (11), 11:5823 (2020)
Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications 20.
Journal Article
22 (10), e19263 (2020)
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study. Journal of Medical Internet Research (JMIR)