Publications of Stefan Mundlos

Hernandez-Miranda, L. R.; Ibrahim, D.; Ruffault, P.-L.; Larrosa, M.; Balueva, K.; Müller, T.; Weerd, W. d.; Stolte-Dijkstra, I.; Hostra, R. M. W.; Brunet, J.-F. et al.; Fortin, G.; Mundlos, S.; Birchmeier, C.: 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 115 (51), pp. 13021 - 13026 (2018)

Luther, J.; Yorgan, T. A.; Rolvien, T.; Ulsamer, L.; Koehne, T.; Liao, N.; Keller, D.; Vollersen, N.; Teufel, S.; Neven, M. et al.; Peters, S.; Schweizer, M.; Trumpp, A.; Rosigkeit, S.; Bockamp, E.; Mundlos, S.; Kornak, U.; Oheim, R.; Amling, M.; Schinke, T.; David, J.-P.: Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science Translational Medicine 10 (466), eaau7137 (2018)

Kragesteen, B.; Duboule, D.; Mundlos, S.; Spielmann, M.: Response to Peron et al. GENETICS IN MEDICINE 20, pp. 1481 - 1482 (2018)

Rolvien, T.; Stürznickel, J.; Schmidt, F. N.; Butscheidt, S.; Schmidt, T.; Busse, B.; Mundlos, S.; Schinke, T.; Kornak, U.; Amling, M. et al.; Oheim, R.: Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International 103 (5), pp. 512 - 521 (2018)

Holtgrewe, M.; Knaus, A.; Hildebrand, G.; Pantel, J.-T.; de los Santos, M. R.; Neveling, K.; Goldmann, J.; Schubach, M.; Jäger, M.; Coutelier, M. et al.; Mundlos, S.; Beule, D.; Sperling, K.; Krawitz, P. M.: Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports 8 (1), 14611 (2018)

Kragesteen , B. K.; Spielmann, M.; Paliou, C.; Heinrich, V.; Schöpflin, R.; Esposito, A.; Annunziatella, C.; Bianco , S.; Chiariello, A. M.; Jerković , I. et al.; Harabula, I.; Guckelberger, P.; Pechstein, M.; Wittler, L.; Chan, W.-L.; Franke, M.; Lupiáñez , D. G.; Kraft, K.; Timmermann, B.; Vingron, M.; Visel, A.; Nicodemi, M.; Mundlos, S.; Andrey, G.: Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 50 (10), pp. 1463 - 1473 (2018)

Castori, M.; Ott, C.-E.; Bisceglia, L.; Leone, M. P.; Mazza, T.; Castellana, S.; Tomassi, J.; Lanciotti, S.; Mundlos, S.; Hennekam, R. C. et al.; Kornak, U.; Brancati, F.: A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American Journal of Medical Genetics Part A 176 (9), pp. 2028 - 2033 (2018)

Khayal, A. L.; Grünhagen, J.; Provaznik, I.; Mundlos, S.; Kornak, U.; Robinson, P.; Ott, C.-E.: Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone 113, pp. 29 - 40 (2018)

Butscheidt, S.; Delsmann, A.; Rolvien, T.; Barvencik, F.; Al-Bughaili, M.; Mundlos, S.; Schinke, T.; Amling, M.; Kornak, U.; Oheim, R.: Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2. Osteoporosis International 29 (7), pp. 1643 - 1651 (2018)

Spielmann, M.; Lupiáñez, D. G.; Mundlos, S.: Structural variation in the 3D genome. Nature Reviews Genetics 19 (7), pp. 453 - 467 (2018)

Flöttmann, R.; Kragesteen, B. K.; Geuer, S.; Socha, M.; Allou, L.; Sowińska-Seidler, A.; Bosquillon de Jarcy, L.; Wagner, J.; Jamsheer, A.; Oehl-Jaschkowitz, B. et al.; Wittler, L.; de Silva, D.; Kurth, I.; Maya, I.; Santos-Simarro, F.; Hülsemann, W.; Klopocki, E.; Mountford, R.; Fryer, A.; Borck, G.; Horn, D.; Lapunzina, P.; Wilson, M.; Mascrez, B.; Duboule, D.; Mundlos, S.; Spielmann, M.: Noncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE 20 (6), pp. 599 - 607 (2018)

Bianco, S.; Lupiáñez, D. G.; Chiariello, A. M.; Annunziatella, C.; Kraft, K.; Schöpflin, R.; Wittler, L.; Andrey, G.; Vingron, M.; Pombo, A. et al.; Mundlos, S.; Nicodemi, M.: Polymer physics predicts the effects of structural variants on chromatin architecture. Nature Genetics 50 (5), pp. 662 - 667 (2018)

Pantel, J. T.; Zhao, M.; Mensah, M.; Hajjir, N.; Hsieh, T.-C.; Hanani, Y.; Fleischer, N.; Kamphans, T.; Mundlos, S.; Gurovich, Y. et al.; M. Krawitz, P.: Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. Journal of Inherited Metabolic Disease 41 (3), pp. 533 - 539 (2018)

Piard, J.; Lespinasse, J.; Vlckova, M.; Mensah, M.; Lurian, S.; Simandlova, M.; Malikova, M.; Bartsch, O.; Rossi, M.; Lenoir, M. et al.; Nugues, F.; Mundlos, S.; Kornak, U.; Stanier, P.; Sousa, S.; Van Maldergem, L.: Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1. American Journal of Medical Genetics Part A 176 (3), pp. 668 - 675 (2018)

Knaus, A.; Pantel, J. T.; Pendziwiat, M.; Hajjir, N.; Zhao, M.; Hsieh, T.-C.; Schubach, M.; Gurovich, Y.; Fleischer, N.; Jäger, M. et al.; Köhler, S.; Muhle, H.; Korff, C.; Møller, R. S.; Bayat, A.; Calvas, P.; Chassaing, N.; Warren, H.; Skinner, S.; Louie, R.; Evers, C.; Bohn, M.; Christen, H.-J.; van den Born, M.; Obersztyn, E.; Charzewska, A.; Endziniene, M.; Kortüm, F.; Brown, N.; Robinson, P. N.; Schelhaas, H. J.; Weber, Y.; Helbig, I.; Mundlos, S.; Horn, D.; Krawitz, P. M.: Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine 10 (1), 10(1):3 (2018)

Chan, W. L.; Steiner, M.; Witkos, T.; Egerer, J.; Busse, B.; Mizumoto, S.; Pestka, J. M.; Zhang, H.; Hausser, I.; Khayal, L. A. et al.; Ott, C.-E.; Kolanczyk, M.; Willie, B.; Schinke, T.; Paganini, C.; Rossi, A.; Sugahara, K.; Amling, M.; Knaus, P.; Chan, D.; Lowe, M.; Mundlos, S.; Kornak, U.: 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 14 (3), e1007242 (2018)

Geissler, S.; Textor, M.; Stumpp, S.; Seitz, S.; Lekaj, A.; Brunk, S.; Klaassen, S.; Schinke, T.; Klein, C.; Mundlos, S. et al.; Kornak, U.; Kühnisch, J.: Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation. PLoS One 13 (6), e0198510 (2018)

Rauner, M.; Buttgereit, F.; Distler, J.; Garbe, A. I.; Herrmann, M.; Hofbauer, L.; Hoffmann, M.; Jessberger, R.; Kornak, U.; Krönke, G. et al.; Mundlos, S.; Spies, C.; Tuckermann, J.; Zwerina, J.: Osteoimmunologie – IMMUNOBONE: Regulation des Knochens durch Entzündung. Zeitschrift für Rheumatologie 77 (Suppl.1), pp. S12 - S15 (2018)

Rolvien, T.; Kornak, U.; Stürznickel, J.; Schinke, T.; Amling, M.; Mundlos, S.; Oheim, R.: A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. Osteoporosis International 29 (1), pp. 243 - 246 (2018)

Ehmke, N.; Graul-Neumann, L.; Smorag, L.; Koenig, R.; Segebrecht, L.; Magoulas, P.; Scaglia, F.; Kilic, E.; Hennig, A. F.; Adolphs, N. et al.; Saha, N.; Fauler, B.; Kalscheuer, V. M.; Hennig, F.; Altmüller, J.; Netzer, C.; Thiele, H.; Nürnberg, P.; Yigit, G.; Jäger, M.; Hecht, J.; Krüger, U.; Mielke, T.; Krawitz, P. M.; Horn, D.; Schuelke, M.; Mundlos, S.; Bacino, C. A.; Bonnen, P. E.; Wollnik, B.; Fischer-Zirnsak, B.; Kornak, U.: De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 101 (5), pp. 833 - 843 (2017)