Publikationen von Stefan Mundlos
Alle Typen
Zeitschriftenartikel (261)
21.
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 22.
Zeitschriftenartikel
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)
23.
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 24.
Zeitschriftenartikel
2020 (11), 11:5823 (2020)
Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications 25.
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) 26.
Zeitschriftenartikel
370 (6513), S. 208 - 214 (2020)
The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science 27.
Zeitschriftenartikel
182 (9), S. 2068 - 2076 (2020)
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. American Journal of Medical Genetics Part A 28.
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 29.
Zeitschriftenartikel
181 (5), e30, S. 1062 - 1079 (2020)
Unblending of Transcriptional Condensates in Human Repeat Expansion Disease. Cell 30.
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 31.
Zeitschriftenartikel
51 (8), S. 1263 - 1271 (2019)
Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature Genetics 32.
Zeitschriftenartikel
2019, 528877 (2019)
Preformed Chromatin Topology Assists Transcriptional Robustness of Shh during Limb Development. bioRxiv (Preprint Server) 33.
Zeitschriftenartikel
21 (3), S. 305 - 310 (2019)
Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology 34.
Zeitschriftenartikel
115 (51), S. 13021 - 13026 (2018)
Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. Proceedings of the National Academy of Sciences of the United States of America 35.
Zeitschriftenartikel
10 (466), eaau7137 (2018)
Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science Translational Medicine 36.
Zeitschriftenartikel
20, S. 1481 - 1482 (2018)
Response to Peron et al. GENETICS IN MEDICINE 37.
Zeitschriftenartikel
103 (5), S. 512 - 521 (2018)
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International 38.
Zeitschriftenartikel
8 (1), 14611 (2018)
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports 39.
Zeitschriftenartikel
50 (10), S. 1463 - 1473 (2018)
Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 40.
Zeitschriftenartikel
176 (9), S. 2028 - 2033 (2018)
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American Journal of Medical Genetics Part A