Publikationen von Stefan Mundlos
Alle Typen
Zeitschriftenartikel (275)
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
Zeitschriftenartikel
181 (5), S. 1062 - 1079 (2020)
Unblending of Transcriptional Condensates in Human Repeat Expansion Disease. Cell
Zeitschriftenartikel
61, S. 1 - 8 (2020)
The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization. Current Opinion in Genetics & Development
Zeitschriftenartikel
51 (8), S. 1263 - 1271 (2019)
Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature Genetics
Zeitschriftenartikel
74 (6), S. 1110 - 1122 (2019)
Regulatory Landscaping: How Enhancer-Promoter Communication Is Sculpted in 3D. Molecular Cell
Zeitschriftenartikel
116 (25), S. 12390 - 12399 (2019)
Preformed Chromatin Topology Assists Transcriptional Robustness of Shh during Limb Development. Proceedings of the National Academy of Sciences of the United States of America
Zeitschriftenartikel
21 (3), S. 305 - 310 (2019)
Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology
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
Zeitschriftenartikel
10 (466), eaau7137 (2018)
Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science Translational Medicine
Zeitschriftenartikel
20, S. 1481 - 1482 (2018)
Response to Peron et al. GENETICS IN MEDICINE
Zeitschriftenartikel
103 (5), S. 512 - 521 (2018)
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International
Zeitschriftenartikel
8 (1), 14611 (2018)
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports
Zeitschriftenartikel
50 (10), S. 1463 - 1473 (2018)
Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics
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
Zeitschriftenartikel
113, S. 29 - 40 (2018)
Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone
Zeitschriftenartikel
29 (7), S. 1643 - 1651 (2018)
Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2. Osteoporosis International
Zeitschriftenartikel
19 (7), S. 453 - 467 (2018)
Structural variation in the 3D genome. Nature Reviews Genetics
Zeitschriftenartikel
20 (6), S. 599 - 607 (2018)
Noncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE
Zeitschriftenartikel
50 (5), S. 662 - 667 (2018)
Polymer physics predicts the effects of structural variants on chromatin architecture. Nature Genetics
Zeitschriftenartikel
41 (3), S. 533 - 539 (2018)
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. Journal of Inherited Metabolic Disease