Publikationen von Stefan Mundlos
Alle Typen
Zeitschriftenartikel (250)
1.
Zeitschriftenartikel
2022 (2022)
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. GENETICS IN MEDICINE 2.
Zeitschriftenartikel
2022, 14, S. 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 3.
Zeitschriftenartikel
23, 67 (2022)
TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs. Genome Biology 4.
Zeitschriftenartikel
15 (3), S. 421 - 433 (2022)
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. Autism Research 5.
Zeitschriftenartikel
2022 (2022)
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome). Journal of Human Genetics 6.
Zeitschriftenartikel
82, S. 1 - 19 (2022)
Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus. Molecular Cell 7.
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600, S. 731 - 736 (2021)
ecDNA hubs drive cooperative intermolecular oncogene expression. Nature 8.
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140, S. 1459 - 1469 (2021)
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics 9.
Zeitschriftenartikel
108 (9), S. 1725 - 1734 (2021)
Position effects at the FGF8 locus are associated with femoral hypoplasia. The American Journal of Human Genetics 10.
Zeitschriftenartikel
108 (5), S. 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 11.
Zeitschriftenartikel
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)
12.
Zeitschriftenartikel
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 13.
Zeitschriftenartikel
2020 (11), 11:5823 (2020)
Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications 14.
Zeitschriftenartikel
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) 15.
Zeitschriftenartikel
370 (6513), S. 208 - 214 (2020)
The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science 16.
Zeitschriftenartikel
182 (9), S. 2068 - 2076 (2020)
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. American Journal of Medical Genetics Part A 17.
Zeitschriftenartikel
106 (6), S. 872 - 884 (2020)
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 18.
Zeitschriftenartikel
181 (5), e30, S. 1062 - 1079 (2020)
Unblending of Transcriptional Condensates in Human Repeat Expansion Disease. Cell 19.
Zeitschriftenartikel
61, 61:1-8 (2020)
The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization. Current Opinion in Genetics & Development 20.
Zeitschriftenartikel
51 (8), S. 1263 - 1271 (2019)
Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature Genetics