Not logged in Temporal loss of En1 during limb development causes distinct phenotypes Ringel, Alessa R.; Benetti, Natalia; Magg, Andreas; Groll, Fabian; Schopflin, Robert; Kuhnlein, Mira; Stiege, Asita Carola; Fischer, Ute; Wittler, Lars; Game, Laurence; Lorenz, Stephan; Young, George; Mundlos, Stefan; Allou, Lila Share Save
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AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology Klever, Marius-Konstantin; Straeng, Eric; Hetzel, Sara; Jungnitsch, Julius; Dolnik, Anna; Schoepffin, Robert; Schrezenmeier, Jens-Florian; Schick, Felix; Blau, Olga; Westermann, Joerg; Ruecker, Frank G.; Xia, Zuyao; Doehner, Konstanze; Schrezenmeier, Hubert; Spielmann, Malte; Meissner, Alexander; Melo, Uira Souto; Mundlos, Stefan; Bullinger, Lars Share Save
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation (vol 4, 6301, 2023) Melo, Uira Souto; Jatzlau, Jerome; Prada-Medina, Cesar A.; Flex, Elisabetta; Hartmann, Sunhild; Ali, Salaheddine; Schoepflin, Robert; Bernardini, Laura; Ciolfi, Andrea; Moeinzadeh, M-Hossein; Klever, Marius-Konstantin; Altay, Aybuge; Vallecillo-Garcia, Pedro; Carpentieri, Giovanna; Delledonne, Massimo; Ort, Melanie-Jasmin; Schwestka, Marko; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo; Gossen, Manfred; Strunk, Dirk; Geissler, Sven; Mundlos, Stefan; Stricker, Sigmar; Knaus, Petra; Giorgio, Elisa; Spielmann, Malte Share Save
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Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3 (vol 14, 1475, 2023) Cova, Giulia; Glaser, Juliane; Schoepflin, Robert; Prada-Medina, Cesar Augusto; Ali, Salaheddine; Franke, Martin; Falcone, Rita; Federer, Miriam; Ponzi, Emanuela; Ficarella, Romina; Novara, Francesca; Wittler, Lars; Timmermann, Bernd; Gentile, Mattia; Zuffardi, Orsetta; Spielmann, Malte; Mundlos, Stefan Share Save
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation Melo, Uira Souto; Jatzlau, Jerome; Prada-Medina, Cesar A.; Flex, Elisabetta; Hartmann, Sunhild; Ali, Salaheddine; Schoepflin, Robert; Bernardini, Laura; Ciolfi, Andrea; Moeinzadeh, M-Hossein; Klever, Marius-Konstantin; Altay, Aybuge; Vallecillo-Garcia, Pedro; Carpentieri, Giovanna; Delledonne, Massimo; Ort, Melanie-Jasmin; Schwestka, Marko; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo; Gossen, Manfred; Strunk, Dirk; Geissler, Sven; Mundlos, Stefan; Stricker, Sigmar; Knaus, Petra; Giorgio, Elisa; Spielmann, Malte Share Save
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3 Cova, Giulia; Glaser, Juliane; Schoepflin, Robert; Prada-Medina, Cesar Augusto; Ali, Salaheddine; Franke, Martin; Falcone, Rita; Federer, Miriam; Ponzi, Emanuela; Ficarella, Romina; Novara, Francesca; Wittler, Lars; Timmermann, Bernd; Gentile, Mattia; Zuffardi, Orsetta; Spielmann, Malte; Mundlos, Stefan Share Save
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes Schoepflin, Robert; Melo, Uira Souto; Moeinzadeh, Hossein; Heller, David; Laupert, Verena; Hertzberg, Jakob; Holtgrewe, Manuel; Alavi, Nico; Klever, Marius-Konstantin; Jungnitsch, Julius; Comak, Emel; Tuerkmen, Seval; Horn, Denise; Duffourd, Yannis; Faivre, Laurence; Callier, Patrick; Sanlaville, Damien; Zuffardi, Orsetta; Tenconi, Romano; Kurtas, Nehir Edibe; Giglio, Sabrina; Prager, Bettina; Latos-Bielenska, Anna; Vogel, Ida; Bugge, Merete; Tommerup, Niels; Spielmann, Malte; Vitobello, Antonio; Kalscheuer, Vera M.; Vingron, Martin; Mundlos, Stefan Share Save
Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus Gjaltema, Rutger A. F.; Schwaemmle, Till; Kautz, Pauline; Robson, Michael; Schoepflin, Robert; Lustig, Liat Ravid; Brandenburg, Lennart; Dunkel, Ilona; Vechiatto, Carolina; Ntini, Evgenia; Mutzel, Verena; Schmiedel, Vera; Marsico, Annalisa; Mundlos, Stefan; Schulz, Edda G. Share Save
Position effects at the FGF8 locus are associated with femoral hypoplasia Socha, Magdalena; Sowinska-Seidler, Anna; Melo, Uira Souto; Kragesteen, Bjort K.; Franke, Martin; Heinrich, Verena; Schopflin, Robert; Nagel, Inga; Gruchy, Nicolas; Mundlos, Stefan; Sreenivasan, Varun K. A.; Lopez, Cristina; Vingron, Martin; Bukowska-Olech, Ewelina; Spielmann, Malte; Jamsheer, Aleksander Share Save
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus Melo, Uira Souto; Piard, Juliette; Fischer-Zirnsak, Bjorn; Klever, Marius-Konstantin; Schopflin, Robert; Mensah, Martin Atta; Holtgrewe, Manuel; Arbez-Gindre, Francine; Martin, Alain; Guigue, Virginie; Gaillard, Dominique; Landais, Emilie; Roze, Virginie; Kremer, Valerie; Ramanah, Rajeev; Cabrol, Christelle; Harms, Frederike L.; Kornak, Uwe; Spielmann, Malte; Mundlos, Stefan; Van Maldergem, Lionel Share Save
Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma Helmsauer, Konstantin; Valieva, Maria E.; Ali, Salaheddine; Gonzalez, Rocio Chamorro; Schoepflin, Robert; Roeefzaad, Claudia; Bei, Yi; Garcia, Heathcliff Dorado; Rodriguez-Fos, Elias; Puiggros, Montserrat; Kasack, Katharina; Haase, Kerstin; Keskeny, Csilla; Chen, Celine Y.; Kuschel, Luis P.; Euskirchen, Philipp; Heinrich, Verena; Robson, Michael, I; Rosswog, Carolina; Toedling, Joern; Szymansky, Annabell; Hertwig, Falk; Fischer, Matthias; Torrents, David; Eggert, Angelika; Schulte, Johannes H.; Mundlos, Stefan; Henssen, Anton G.; Koche, Richard P. Share Save
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases Melo, Uira Souto; Schoepflin, Robert; Acuna-Hidalgo, Rocio; Mensah, Martin Atta; Fischer-Zirnsak, Bjoern; Holtgrewe, Manuel; Klever, Marius-Konstantin; Tuerkmen, Seval; Heinrich, Verena; Pluym, Ilina Datkhaeva; Matoso, Eunice; de Sousa, Sergio Bernardo; Louro, Pedro; Huelsemann, Wiebke; Cohen, Monika; Dufke, Andreas; Latos-Bielenska, Anna; Vingron, Martin; Kalscheuer, Vera; Quintero-Rivera, Fabiola; Spielmann, Malte; Mundlos, Stefan Share Save
CRUP: a comprehensive framework to predict condition-specific regulatory units Ramisch, Anna; Heinrich, Verena; Glaser, Laura V.; Fuchs, Alisa; Yang, Xinyi; Benner, Philipp; Schoepflin, Robert; Li, Na; Kinkley, Sarah; Roemer-Hillmann, Anja; Longinotto, John; Heyne, Steffen; Czepukojc, Beate; Kessler, Sonja M.; Kiemer, Alexandra K.; Cadenas, Cristina; Arrigoni, Laura; Gasparoni, Nina; Manke, Thomas; Pap, Thomas; Pospisilik, John A.; Hengstler, Jan; Walter, Joern; Meijsing, Sebastiaan H.; Chung, Ho-Ryun; Vingron, Martin Share Save
Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture Despang, Alexandra; Schoepflin, Robert; Franke, Martin; Ali, Salaheddine; Jerkovic, Ivana; Paliou, Christina; Chan, Wing-Lee; Timmermann, Bernd; Wittler, Lars; Vingron, Martin; Mundlos, Stefan; Ibrahim, Daniel M. Share Save
Preformed chromatin topology assists transcriptional robustness of Shh during limb development Paliou, Christina; Guckelberger, Philine; Schoepflin, Robert; Heinrich, Verena; Esposito, Andrea; Chiariello, Andrea M.; Bianco, Simona; Annunziatella, Carlo; Helmuth, Johannes; Haas, Stefan; Jerkovic, Ivana; Brieske, Norbert; Wittler, Lars; Timmermann, Bernd; Nicodemi, Mario; Vingron, Martin; Mundlos, Stefan; Andrey, Guillaume Share Save
Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations Kraft, Katerina; Magg, Andreas; Heinrich, Verena; Riemenschneider, Christina; Schoeflin, Robert; Markowski, Julia; Ibrahim, Daniel M.; Acuna-Hidalgo, Rocio; Despang, Alexandra; Andrey, Guillaume; Wittler, Lars; Timmermann, Bernd; Vingron, Martin; Mundlos, Stefan Share Save
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis Kragesteen, Bjort K.; Spielmann, Malte; Paliou, Christina; Heinrich, Verena; Schoepflin, Robert; Esposito, Andrea; Annunziatella, Carlo; Bianco, Simona; Chiariello, Andrea M.; Jerkovic, Ivana; Harabula, Izabela; Guckelberger, Philine; Pechstein, Michael; Wittler, Lars; Chan, Wing-Lee; Franke, Martin; Lupianez, Dario G.; Kraft, Katerina; Timmermann, Bernd; Vingron, Martin; Visel, Axel; Nicodemi, Mario; Mundlos, Stefan; Andrey, Guillaume Share Save
Polymer physics predicts the effects of structural variants on chromatin architecture Bianco, Simona; Lupianez, Dario G.; Chiariello, Andrea M.; Annunziatella, Carlo; Kraft, Katerina; Schoepflin, Robert; Wittler, Lars; Andrey, Guillaume; Vingron, Martin; Pombo, Ana; Mundlos, Stefan; Nicodemi, Mario Share Save