Publikationen von Stefan Mundlos

Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, and Peter M. Krawitz, "Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis," Genome Medicine 10 (1), 10(1):3 (2018).

Wing Lee Chan, Magdalena Steiner, Tomasz Witkos, Johannes Egerer, Björn Busse, Shuji Mizumoto, Jan M. Pestka, Haikuo Zhang, Ingrid Hausser, Layal Abo Khayal, Claus-Eric Ott, Mateusz Kolanczyk, Bettina Willie, Thorsten Schinke, Chiara Paganini, Antonio Rossi, Kazuyuki Sugahara, Michael Amling, Petra Knaus, Danny Chan, Martin Lowe, Stefan Mundlos, and Uwe Kornak, "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).

Sven Geissler, Martin Textor, Sabine Stumpp, Sebastian Seitz, Anja Lekaj, Sabrina Brunk, Sabine Klaassen, Thorsten Schinke, Christoph Klein, Stefan Mundlos, Uwe Kornak, and Jirko Kühnisch, "Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation," PLoS One 13 (6), e0198510 (2018).

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

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

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

Malte Spielmann, Luis R. Hernandez-Miranda, Isabella Ceccherini, Debra E. Weese-Mayer, Bjørt K. Kragesteen, Izabela Harabula, Peter Krawitz, Carmen Birchmeier, Norma Leonard, and Stefan Mundlos, "Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction," Journal of Medical Genetics 54 (11), 754-761 (2017).

A. J. Will , G. Cova, M. Osterwalder, W. L. Chan, L. Wittler, N. Brieske, V. Heinrich, J. P. de Villartay, M. Vingron, E. Klopocki, A. Visel, D. G. Lupianez, and S. Mundlos, "Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog)," Nature Genetics 49 (10), 1539-1545 (2017).

Guillaume Andrey, Robert Schöpflin, Ivana Jerković, Verena Heinrich, Daniel Ibrahim, Christina Paliou, Myriam Hochradel, Bernd Timmermann, Stefan Haas, Martin Vingron, and Stefan Mundlos, "Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding," Genome Research 27 (2), 223-233 (2017).

I. Jerković, D. Ibrahim, G. Andrey, S. Haas, P. Hansen, C. Janetzki, I. Gonzalez Navarrete, P. N. Robinson, J. Hecht, and S. Mundlos, "Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF," PLoS Genetics 13 (1), e1006567 (2017).

Martin Franke, Daniel Ibrahim, Guillaume Andrey, Wibke Schwarzer, Verena Heinrich, Robert Schöpflin, Katerina Kraft, Rieke Kempfer, Ivana Jerković, Wing-Lee Chan, Malte Spielmann, Bernd Timmermann, Lars Wittler, Ingo Kurth, Paola Cambiaso, Orsetta Zuffardi, Gunnar Houge, Lindsay Lambie, Francesco Brancati, Ana Pombo, Martin Vingron, Francois Spitz, and Stefan Mundlos, "Formation of novel chromatin domains determines pathogenicity of genomic duplications," Nature 538 (7624), 265-269 (2016).

M. Spielmann and S. Mundlos, "Looking beyond the genes: the role of non-coding variants in human disease," Human Molecular Genetics 25 (R2), R157-R165 (2016).

W. Seifert, Y. Posor, P. Schu, G. Stenbeck, S. Mundlos, S. Klaassen, P. Nurnberg, V. Haucke, U. Kornak, and J. Kühnisch, "The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface," Human Molecular Genetics 25 (17), 3836-3848 (2016).

V. Heinrich, T. Kamphans, S. Mundlos, P. N. Robinson, and P. M. Krawitz, "A likelihood ratio based method to predict exact pedigrees for complex families from next-generation sequencing data," Bioinformatics 2016, btw550 (2016).

R. Flöttmann, A. Sowinska-Seidler, J. Lavie, J. F. Chateil, D. Lacombe, S. Mundlos, D. Horn, and M. Spielmann, "Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia," European journal of human genetics 24 (8), 1132-1136 (2016).

A. Knaus, T. Awaya, I. Helbig, Z. Afawi, M. Pendziwiat, J. Abu-Rachma, M. D. Thompson, D. E. Cole, S. Skinner, F. Annese, N. Canham, M. R. Schweiger, P. N. Robinson, S. Mundlos, T. Kinoshita, A. Munnich, Y. Murakami, D. Horn, and P. M. Krawitz, "Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome," Human Mutations 37 (8), 737-744 (2016).

M. Spielmann, S. Marx, G. Barbi, R. Flottmann, H. Kehrer-Sawatzki, R. Konig, D. Horn, S. Mundlos, S. Nader, and G. Borck, "Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement," American Journal of Medical Genetics Part A 170A (5), 1202-1207 (2016).

D. G. Lupiáñez, M. Spielmann, and S. Mundlos, "Breaking TADs: How Alterations of Chromatin Domains Result in Disease," Trends in Genetics 32 (4), 225-237 (2016).

L. Mackenroth, B. Fischer-Zirnsak, J. Egerer, J. Hecht, T. Kallinich, W. Stenzel, B. Spors, A. von Moers, S. Mundlos, U. Kornak, K. Gerhold, and D. Horn, "An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing," American Journal of Medical Genetics Part A 170A (4), 1080-1085 (2016).

Daniel Ibrahim, Naeimeh Tayebi, Alexej Knaus, Asita Carola Stiege, Afsaneh Sahebzamani, Jochen Hecht, Stefan Mundlos, and Malte Spielmann, "A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.," American Journal of Medical Genetics Part A 170 (3), 615-621 (2016).