Publications of Stefan Mundlos
All genres
Journal Article (266)
41.
Journal Article
20, pp. 1481 - 1482 (2018)
Response to Peron et al. GENETICS IN MEDICINE 42.
Journal Article
103 (5), pp. 512 - 521 (2018)
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International 43.
Journal Article
8 (1), 14611 (2018)
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports 44.
Journal Article
50 (10), pp. 1463 - 1473 (2018)
Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 45.
Journal Article
176 (9), pp. 2028 - 2033 (2018)
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American Journal of Medical Genetics Part A 46.
Journal Article
113, pp. 29 - 40 (2018)
Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone 47.
Journal Article
29 (7), pp. 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 48.
Journal Article
19 (7), pp. 453 - 467 (2018)
Structural variation in the 3D genome. Nature Reviews Genetics 49.
Journal Article
20 (6), pp. 599 - 607 (2018)
Noncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE 50.
Journal Article
50 (5), pp. 662 - 667 (2018)
Polymer physics predicts the effects of structural variants on chromatin architecture. Nature Genetics 51.
Journal Article
41 (3), pp. 533 - 539 (2018)
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. Journal of Inherited Metabolic Disease 52.
Journal Article
176 (3), pp. 668 - 675 (2018)
Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1. American Journal of Medical Genetics Part A 53.
Journal Article
10 (1), 10(1):3 (2018)
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine 54.
Journal Article
14 (3), e1007242 (2018)
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. PLoS Genetics 55.
Journal Article
13 (6), e0198510 (2018)
Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation. PLoS One 56.
Journal Article
77 (Suppl.1), pp. S12 - S15 (2018)
Osteoimmunologie – IMMUNOBONE: Regulation des Knochens durch Entzündung. Zeitschrift für Rheumatologie 57.
Journal Article
29 (1), pp. 243 - 246 (2018)
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. Osteoporosis International 58.
Journal Article
101 (5), pp. 833 - 843 (2017)
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 59.
Journal Article
49 (10), pp. 1539 - 1545 (2017)
Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). Nature Genetics 60.
Journal Article
27 (2), pp. 223 - 233 (2017)
Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding. Genome Research