Publikationen von Stefan Mundlos

Shaon Basu, Sebastian Mackowiak, Henri Niskanen, Dora Knezevic, Vahid Asimi, Stefanie Grosswendt, Hylkje Geertsema, Salaheddine Ali, Ivana Jerković, Helge Ewers, Stefan Mundlos, Alexander Meissner, Daniel M. Ibrahim, and Denes Hnisz, "Unblending of Transcriptional Condensates in Human Repeat Expansion Disease," Cell 181 (5), 1062-1079 (2020).

Daniel M. Ibrahim and Stefan Mundlos, "The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization," Current Opinion in Genetics & Development 61, 1-8 (2020).

Alexandra Despang, Robert Schöpflin, Martin Franke, Salaheddine Ali, Ivana Jerković, Christina Paliou, Wing-Lee Chan, Bernd Timmermann, Lars Wittler, Martin Vingron, Stefan Mundlos, and Daniel M. Ibrahim, "Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture," Nature Genetics 51 (8), 1263-1271 (2019).

Michael I. Robson, Alessa R. Ringel, and Stefan Mundlos, "Regulatory Landscaping: How Enhancer-Promoter Communication Is Sculpted in 3D," Molecular Cell 74 (6), 1110-1122 (2019).

Christina Paliou, Philine Guckelberger, Robert Schöpflin, Verena Heinrich, Andrea Esposito, Andrea M. Chiariello, Simona Bianco, Carlo Annunziatella, Johannes Helmuth, Stefan Haas, Ivana Jerković, Norbert Brieske, Lars Wittler, Bernd Timmermann, Mario Nicodemi, Martin Vingron, Stefan Mundlos, and Guillaume Andrey, "Preformed Chromatin Topology Assists Transcriptional Robustness of Shh during Limb Development," Proceedings of the National Academy of Sciences of the United States of America 116 (25), 12390-12399 (2019).

Katerina Kraft, Andreas Magg, Verena Heinrich, Christina Riemenschneider, Robert Schöpflin, Julia Markowski, Daniel Ibrahim, Rocío Acuna-Hidalgo, Alexandra Despang, Guillaume Andrey, Lars Wittler, Bernd Timmermann, Martin Vingron, and Stefan Mundlos, "Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations," Nature Cell Biology 21 (3), 305-310 (2019).

Luis Rodrigo Hernandez-Miranda, Daniel Ibrahim, Pierre-Louis Ruffault, Madeleine Larrosa, Kira Balueva, Thomas Müller, Willemien de Weerd, Irene Stolte-Dijkstra, Robert M. W. Hostra, Jean-François Brunet, Gilles Fortin, Stefan Mundlos, and Carmen Birchmeier, "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), 13021-13026 (2018).

Julia Luther, Timur Alexander Yorgan, Tim Rolvien, Lorenz Ulsamer, Till Koehne, Nannan Liao, Daniela Keller, Nele Vollersen, Stefan Teufel, Mona Neven, Stephanie Peters, Michaela Schweizer, Andreas Trumpp, Sebastian Rosigkeit, Ernesto Bockamp, Stefan Mundlos, Uwe Kornak, Ralf Oheim, Michael Amling, Thorsten Schinke, and Jean-Pierre David, "Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand," Science Translational Medicine 10 (466), eaau7137 (2018).

Bjørt Kragesteen, Denis Duboule, Stefan Mundlos, and Malte Spielmann, "Response to Peron et al," GENETICS IN MEDICINE 20, 1481-1482 (2018).

Tim Rolvien, Julian Stürznickel, Felix N. Schmidt, Sebastian Butscheidt, Tobias Schmidt, Björn Busse, Stefan Mundlos, Thorsten Schinke, Uwe Kornak, Michael Amling, and Ralf Oheim, "Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis," Calcified Tissue International 103 (5), 512-521 (2018).

Manuel Holtgrewe, Alexej Knaus, Gabriele Hildebrand, Jean-Tori Pantel, Miguel Rodriguez de los Santos, Kornelia Neveling, Jakob Goldmann, Max Schubach, Marten Jäger, Marie Coutelier, Stefan Mundlos, Dieter Beule, Karl Sperling, and Peter Michael Krawitz, "Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation," Scientific Reports 8 (1), 14611 (2018).

Bjørt K. Kragesteen , Malte Spielmann, Christina Paliou, Verena Heinrich, Robert Schöpflin, Andrea Esposito, Carlo Annunziatella, Simona Bianco , Andrea M. Chiariello, Ivana Jerković , Izabela Harabula, Philine Guckelberger, Michael Pechstein, Lars Wittler, Wing-Lee Chan, Martin Franke, Darío G. Lupiáñez , Katerina Kraft, Bernd Timmermann, Martin Vingron, Axel Visel, Mario Nicodemi, Stefan Mundlos, and Guillaume Andrey, "Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development," Nature Genetics 50 (10), 1463-1473 (2018).

Marco Castori, Claus-Eric Ott, Luigi Bisceglia, Maria Pia Leone, Tommaso Mazza, Stefano Castellana, Jurgen Tomassi, Silvia Lanciotti, Stefan Mundlos, Raoul C. Hennekam, Uwe Kornak, and Francesco Brancati, "A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome," American Journal of Medical Genetics Part A 176 (9), 2028-2033 (2018).

Abo Layal Khayal, Johannes Grünhagen, Ivo Provaznik, Stefan Mundlos, Uwe Kornak, Peter Robinson, and Claus-Eric Ott, "Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses," Bone 113, 29-40 (2018).

Sebastian Butscheidt, A. Delsmann, Tim Rolvien, Florian Barvencik, M. Al-Bughaili, Stefan Mundlos, T. Schinke, M. Amling, Uwe Kornak, and Ralf Oheim, "Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2," Osteoporosis International 29 (7), 1643-1651 (2018).

Malte Spielmann, Darío G. Lupiáñez, and Stefan Mundlos, "Structural variation in the 3D genome," Nature Reviews Genetics 19 (7), 453-467 (2018).

Ricarda Flöttmann, Bjørt K. Kragesteen, Sinje Geuer, Magdalena Socha, Lila Allou, Anna Sowińska-Seidler, Laure Bosquillon de Jarcy, Johannes Wagner, Aleksander Jamsheer, Barbara Oehl-Jaschkowitz, Lars Wittler, Deepthi de Silva, Ingo Kurth, Idit Maya, Fernando Santos-Simarro, Wiebke Hülsemann, Eva Klopocki, Roger Mountford, Alan Fryer, Guntram Borck, Denise Horn, Pablo Lapunzina, Meredith Wilson, Bénédicte Mascrez, Denis Duboule, Stefan Mundlos, and Malte Spielmann, "Noncoding copy-number variations are associated with congenital limb malformation," GENETICS IN MEDICINE 20 (6), 599-607 (2018).

Simona Bianco, Darío G. Lupiáñez, Andrea M. Chiariello, Carlo Annunziatella, Katerina Kraft, Robert Schöpflin, Lars Wittler, Guillaume Andrey, Martin Vingron, Ana Pombo, Stefan Mundlos, and Mario Nicodemi, "Polymer physics predicts the effects of structural variants on chromatin architecture," Nature Genetics 50 (5), 662-667 (2018).

Jean Tori Pantel, Max Zhao, Martin Mensah, Nurulhuda Hajjir, Tzung-Chien Hsieh, Yair Hanani, Nicole Fleischer, Tom Kamphans, Stefan Mundlos, Yaron Gurovich, and Peter M. Krawitz, "Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism," Journal of Inherited Metabolic Disease 41 (3), 533-539 (2018).

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