Publikationen von Stefan Mundlos

Alessa Ringel, Quentin Szabo, Andrea M. Chiariello, Konrad Chudzik, Robert Schöpflin, Patricia Rothe, Alexandra L. Mattei, Tobias Zehnder, Dermot Harnett, Verena Laupert, Simona Bianco, Sara Hetzel, Juliane Glaser, Mai H. Q. Phan, Magdalena Schindler, Daniel M. Ibrahim, Christina Paliou, Andrea Esposito, César A. Prada-Medina, Stefan A. Haas, Peter Giere, Martin Vingron, Lars Wittler, Alexander Meissner, Mario Nicodemi, Giacomo Cavalli, Frédéric Bantignies, Stefan Mundlos, and Michael I. Robson, "Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes," Cell 185 (20), 3689-3704 (2022).

Uwe Kornak, Namrata Saha, Boris Keren, Alexander Neumann, Ana Lisa Taylor Tavares, Juliette Piard, Johannes Kopp, João Guilherme Rodrigues Alves, Miguel Rodríguez de los Santos, Naji El Choubassi, Nadja Ehmke, Marten Jäger, Malte Spielmann, Jean Tori Pantel, Elodie Lejeune, Beatrix Fauler, Thorsten Mielke, Jochen Hecht, David Meierhofer, Tim M. Strom, Vincent Laugel, Alexis Brice, Stefan Mundlos, Aida Bertoli-Avella, Peter Bauer, Florian Heyd, Odile Boute, Juliette Dupont, Christel Depienne, Lionel Van Maldergem, and Björn Fischer-Zirnsak, "Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features," GENETICS IN MEDICINE 24 (9), 1927-1940 (2022).

Jan Berghöfer, Nadia Khaveh, Stefan Mundlos, and Julia Metzger, "Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs," BMC Genomics 23, 564 (2022).

Ralf Oheim, Elena Tsourdi , Lothar Seefried , Gisela Beller , Max Schubach , Eik Vettorazzi , Julian Stürznickel, Tim Rolvien , Nadja Ehmke , Alena Delsmann , Franca Genest, Ulrike Krüger, Tomasz Zemojtel , Florian Barvencik , Thorsten Schinke , Franz Jakob, Lorenz C. Hofbauer, Stefan Mundlos, and Uwe Kornak, "Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders," Journal of Clinical Endocrinology and Metabolism 107 (7), e3048-e3057 (2022).

Francisca M. Real, Miguel Lao-Pérez, Miguel Burgos, Stefan Mundlos, Darío G. Lupiáñez, Rafael Jiménez, and Francisco J. Barrionuevo, "Cell adhesion and immune response, two main functions altered in the transcriptome of seasonally regressed testes of two mammalian species," Journal of Experimental Zoology Part B-Molecular and Developmental Evolution 2022, 14 (2022).

J. Hertzberg, S. Mundlos, M. Vingron, and G. Gallone, "TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs," Genome Biology 23 (1), 67 (2022).

Helle Lybaek, Michael Robson, Nicole de Leeuw, Jayne Y. Hehir-Kwa, Aaron Jeffries, Bjørn Ivar Haukanes, Siren Berland, Diederik de Bruijn, Stefan Mundlos, Malte Spielmann, and Gunnar Houge, "LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions," Autism Research 15 (3), 421-433 (2022).

Felix Boschann, Daniel Acero Moreno, Martin A. Mensah, Henrike L. Sczakiel, Karolina Skipalova , Manuel Holtgrewe , Stefan Mundlos, and Björn Fischer-Zirnsak, "Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)," Journal of Human Genetics 67 (7), 405-410 (2022).

Rutger A. F. Gjaltema, Till Schwämmle, Pauline Kautz, Michael Robson, Robert Schöpflin, Liat Ravid Lustig, Lennart Brandenburg, Ilona Dunkel, Carolina Vechiatto, Evgenia Ntini, Verena Mutzel, Vera Schmiedel, Annalisa Marsico, Stefan Mundlos, and Edda G. Schulz, "Distal and proximal cis-regulatory elements sense X-chromosomal dosage and developmental state at the Xist locus," Molecular Cell 82 (1), 190-208 (2022).

King L. Hung, Kathryn E. Yost, Liangqi Xie, Quanming Shi, Konstantin Helmsauer, Jens Luebeck, Robert Schöpflin, Joshua T. Lange, Rocío Chamorro González, Natasha E. Weiser, Celine Chen, Maria Valieva, Ivy Tsz-Lo Wong, Sihan Wu, Siavash R. Dehkordi, Connor V. Duffy, Katerina Kraft, Jun Tang, Julia A. Belk, John C. Rose, M. Ryan Corces, Jeffrey M. Granja, Rui Li, Utkrisht Rajkumar, Jordan Friedlein, Anindya Bagchi, Ansuman T. Satpathy, Robert Tjian, Stefan Mundlos, Vineet Bafna, Anton G. Henssen, Paul S. Mischel, Zhe Liu, and Howard Y. Chang, "ecDNA hubs drive cooperative intermolecular oncogene expression," Nature 600 (7890), 731-736 (2021).

Uirá Souto Melo, Juliette Piard, Björn Fischer-Zirnsak, Marius-Konstantin Klever, Robert Schöpflin, Martin Atta Mensah, Manuel Holtgrewe, Francine Arbez-Gindre, Alain Martin, Virginie Guigue, Dominique Gaillard, Emilie Landais, Virginie Roze, Valerie Kremer, Rajeev Ramanah, Christelle Cabrol, Frederike L. Harms, Uwe Kornak, Malte Spielmann, Stefan Mundlos, and Lionel Van Maldergem, "Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus," Human Genetics 140 (10), 1459-1469 (2021).

Magdalena Socha, Anna Sowińska-Seidler, Uirá Souto Melo, Bjørt K. Kragesteen, Martin Franke, Verena Heinrich, Robert Schöpflin, Inga Nagel, Nicolas Gruchy, Stefan Mundlos, Varun K. A. Sreenivasan, Cristina López, Martin Vingron, Ewelina Bukowska-Olech, Malte Spielmann, and Aleksander Jamsheer, "Position effects at the FGF8 locus are associated with femoral hypoplasia," The American Journal of Human Genetics 108 (9), 1725-1734 (2021).

Norine Voisin, Rhonda E. Schnur, Sofia Douzgou , Susan M. Hiatt, Cecilie F. Rustad, Natasha J. Brown, Dawn L. Earl, Boris Keren, Olga Levchenko, Sinje Geuer, Sarah Verheyen, Diana Johnson , Yuri A. Zarate, Miroslava Hančárová, David J. Amor, E. Martina Bebin, Jasmin Blatterer, Alfredo Brusco, Gerarda Cappuccio, Joel Charrow, Nicolas Chatron, Gregory M. Cooper, Thomas Courtin, Elena Dadali, Julien Delafontaine, Ennio Del Giudice, Martine Doco, Ganka Douglas, Astrid Eisenkölbl, Tara Funari, Giuliana Giannuzzi , Ursula Gruber-Sedlmayr, Nicolas Guex, Delphine Heron, Øystein L. Holla, Anna C. E. Hurst, Jane Juusola, David Kronn, Alexander Lavrov, Crystle Lee, Séverine Lorrain, Else Merckoll, Anna Mikhaleva, Jennifer Norman, Sylvain Pradervand, Darina Prchalová, Lindsay Rhodes, Victoria R. Sanders , Zdeněk Sedláček, Heidelis A. Seebacher , Elizabeth A. Sellars, Fabio Sirchia, Toshiki Takenouchi, Akemi J. Tanaka, Heidi Taska-Tench, Elin Tønne, Kristian Tveten, Giuseppina Vitiello, Markéta Vlčková , Tomoko Uehara, Caroline Nava, Binnaz Yalcin, Kenjiro Kosaki, Dian Donnai, Stefan Mundlos, Nicola Brunetti-Pierri, Wendy K. Chung, and Alexandre Reymond, "Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy," The American Journal of Human Genetics 108 (5), 857-873 (2021).

Lila Allou, Sara Balzano, Andreas Magg, Mathieu Quinodoz, Beryl Royer-Bertrand, Robert Schöpflin, Wing-Lee Chan, Carlos E. Speck-Martins, Daniel Rocha Carvalho, Luciano Farage, Charles Marques Lourenço, Regina Albuquerque, Srilakshmi Rajagopal, Sheela Nampoothiri, Belinda Campos-Xavier, Carole Chiesa, Florence Niel-Bütschi, Lars Wittler, Bernd Timmermann, Malte Spielmann, Michael Robson, Alessa Ringel, Verena Heinrich, Giulia Cova, Guillaume Andrey , Cesar A. Prada-Medina, Rosanna Pescini-Gobert, Sheila Unger, Luisa Bonafé, Phillip Grote, Carlo Rivolta, Stefan Mundlos, and Andrea Superti-Furga, "Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator," Nature 592 (7852), 93-98 (2021).

Miguel Rodríguez de Los Santos, Marion Rivalan, Friederike S. David, Alexander Stumpf, Julika Pitsch, Despina Tsortouktzidis, Laura Moreno Velasquez, Anne Voigt, Karl Schilling, Daniele Mattei, Melissa Long, Guido Vogt, Alexej Knaus, Björn Fischer-Zirnsak, Lars Wittler, Bernd Timmermann, Peter N. Robinson , Denise Horn, Stefan Mundlos, Uwe Kornak, Albert J. Becker, Dietmar Schmitz , York Winter, and Peter M. Krawitz, "A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions," Proceedings of the National Academy of Sciences of the United States of America 118 (2), e2014481118 (2021).

Konstantin Helmsauer, Maria Valieva, Salaheddine Ali , Rocío Chamorro González, Robert Schöpflin, Claudia Röefzaad, Yi Bei, Heathcliff Dorado Garcia, Elias Rodriguez-Fos, Montserrat Puiggròs, Katharina Kasack, Kerstin Haase, Csilla Keskeny, Celine Y. Chen, Luis P. Kuschel, Philipp Euskirchen, Verena Heinrich, Michael Robson, Carolina Rosswog, Joern Toedling, Annabell Szymansky, Falk Hertwig, Matthias Fischer, David Torrents, Angelika Eggert, Johannes H. Schulte, Stefan Mundlos, Anton G. Henssen, and Richard P. Koche, "Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma," Nature Communications 11 (1), 5823 (2020).

Jean Tori Pantel, Nurulhuda Hajjir, Magdalena Danyel, Jonas Elsner, Angela Teresa Abad-Perez, Peter Hansen, Stefan Mundlos, Malte Spielmann, Denise Horn, Claus-Eric Ott, and Martin A. Mensah, "Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study," Journal of Medical Internet Research (JMIR) 22 (10), e19263 (2020).

Francisca M. Real, Stefan A. Haas, Paolo Franchini, Peiwen Xiong, Oleg Simakov, Heiner Kuhl, Robert Schöpflin, David Heller, Mohammad Hossein Moeinzadeh, Verena Heinrich, Thomas Krannich , Annkatrin Bressin, Michaela F. Hartmann, Stefan A. Wudy, Dina K. N. Dechmann, Alicia Hurtado, Francisco J. Barrionuevo, Magdalena Schindler, Izabela Harabula, Marco Osterwalder, Michael Hiller, Lars Wittler, Axel Visel, Bernd Timmermann, Axel Meyer, Martin Vingron, Rafael Jiménez, Stefan Mundlos, and Dario G. Lupiáñez, "The mole genome reveals regulatory rearrangements associated with adaptive intersexuality," Science 370 (6513), 208-214 (2020).

Aude-Annick Suter , Fernando Santos-Simarro , Pernille Mathiesen Toerring, Angela Abad Perez , Rosario Ramos-Mejia, Karen E. Heath, Victoria Huckstadt , Manuel Parrón-Pajares, Martin Atta Mensah, Wiebke Hülsemann, Manuel Holtgrewe, Stefan Mundlos, Uwe Kornak, Oliver Bartsch, and Nadja Ehmke, "Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals," American Journal of Medical Genetics Part A 182 (9), 2068-2076 (2020).

Uirá Souto Melo, Robert Schöpflin, Rocio Acuna-Hidalgo, Martin Atta Mensah, Björn Fischer-Zirnsak, Manuel Holtgrewe, Marius-Konstantin Klever, Seval Türkmen, Verena Heinrich, Ilina Datkhaeva Pluym, Eunice Matoso, Sérgio Bernardo de Sousa, Pedro Louro, Wiebke Hülsemann, Monika Cohen, Andreas Dufke, Anna Latos-Bieleńska, Martin Vingron, Vera Kalscheuer, Fabiola Quintero-Rivera, Malte Spielmann, and Stefan Mundlos, "Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases," The American Journal of Human Genetics 106 (6), 872-884 (2020).