Publications of Stefan Mundlos

Ringel, A.; Szabo, Q.; Chiariello, A. M.; Chudzik, K.; Schöpflin, R.; Rothe, P.; Mattei, A. L.; Zehnder, T.; Harnett, D.; Laupert, V. et al.; Bianco, S.; Hetzel, S.; Glaser, J.; Phan, M. H. Q.; Schindler, M.; Ibrahim, D. M.; Paliou, C.; Esposito, A.; Prada-Medina, C. A.; Haas, S. A.; Giere, P.; Vingron, M.; Wittler, L.; Meissner, A.; Nicodemi, M.; Cavalli, G.; Bantignies, F.; Mundlos, S.; Robson, M. I.: Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes. Cell 185 (20), pp. 3689 - 3704 (2022)

Kornak, U.; Saha, N.; Keren, B.; Neumann, A.; Taylor Tavares, A. L.; Piard, J.; Kopp, J.; Rodrigues Alves, J. G.; de los Santos, M. R.; El Choubassi, N. et al.; Ehmke, N.; Jäger, M.; Spielmann, M.; Pantel, J. T.; Lejeune, E.; Fauler, B.; Mielke, T.; Hecht, J.; Meierhofer, D.; Strom, T. M.; Laugel, V.; Brice, A.; Mundlos, S.; Bertoli-Avella, A.; Bauer, P.; Heyd, F.; Boute, O.; Dupont, J.; Depienne, C.; Van Maldergem, L.; Fischer-Zirnsak, B.: Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. GENETICS IN MEDICINE 24 (9), pp. 1927 - 1940 (2022)

Berghöfer, J.; Khaveh, N.; Mundlos, S.; Metzger, J.: 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)

Oheim, R.; Tsourdi , E.; Seefried , L.; Beller , G.; Schubach , M.; Vettorazzi , E.; Stürznickel, J.; Rolvien , T.; Ehmke , N.; Delsmann , A. et al.; Genest, F.; Krüger, U.; Zemojtel , T.; Barvencik , F.; Schinke , T.; Jakob, F.; Hofbauer, L. C.; Mundlos, S.; Kornak, U.: Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. Journal of Clinical Endocrinology and Metabolism 107 (7), pp. e3048 - e3057 (2022)

Real, F. M.; Lao-Pérez, M.; Burgos, M.; Mundlos, S.; Lupiáñez, D. G.; Jiménez, R.; Barrionuevo, F. J.: 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)

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

Lybaek, H.; Robson, M.; de Leeuw, N.; Hehir-Kwa, J. Y.; Jeffries, A.; Haukanes, B. I.; Berland, S.; de Bruijn, D.; Mundlos, S.; Spielmann, M. et al.; Houge, G.: LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. Autism Research 15 (3), pp. 421 - 433 (2022)

Boschann, F.; Moreno, D. A.; Mensah, M. A.; Sczakiel, H. L.; Skipalova , K.; Holtgrewe , M.; Mundlos, S.; Fischer-Zirnsak, B.: Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome). Journal of Human Genetics 67 (7), pp. 405 - 410 (2022)

Gjaltema, R. A. F.; Schwämmle, T.; Kautz, P.; Robson, M.; Schöpflin, R.; Ravid Lustig, L.; Brandenburg, L.; Dunkel, I.; Vechiatto, C.; Ntini, E. et al.; Mutzel, V.; Schmiedel, V.; Marsico, A.; Mundlos, S.; Schulz, E. G.: Distal and proximal cis-regulatory elements sense X-chromosomal dosage and developmental state at the Xist locus. Molecular Cell 82 (1), pp. 190 - 208 (2022)

Hung, K. L.; Yost, K. E.; Xie, L.; Shi, Q.; Helmsauer, K.; Luebeck, J.; Schöpflin, R.; Lange, J. T.; Chamorro González, R.; Weiser, N. E. et al.; Chen, C.; Valieva, M.; Wong, I. T.-L.; Wu, S.; Dehkordi, S. R.; Duffy, C. V.; Kraft, K.; Tang, J.; Belk, J. A.; Rose, J. C.; Corces, M. R.; Granja, J. M.; Li, R.; Rajkumar, U.; Friedlein, J.; Bagchi, A.; Satpathy, A. T.; Tjian, R.; Mundlos, S.; Bafna, V.; Henssen, A. G.; Mischel, P. S.; Liu, Z.; Chang, H. Y.: ecDNA hubs drive cooperative intermolecular oncogene expression. Nature 600 (7890), pp. 731 - 736 (2021)

Melo, U. S.; Piard, J.; Fischer-Zirnsak, B.; Klever, M.-K.; Schöpflin, R.; Atta Mensah, M.; Holtgrewe, M.; Arbez-Gindre, F.; Martin, A.; Guigue, V. et al.; Gaillard, D.; Landais, E.; Roze, V.; Kremer, V.; Ramanah, R.; Cabrol, C.; Harms, F. L.; Kornak, U.; Spielmann, M.; Mundlos, S.; Van Maldergem, L.: Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics 140 (10), pp. 1459 - 1469 (2021)

Socha, M.; Sowińska-Seidler, A.; Melo, U. S.; Kragesteen, B. K.; Franke, M.; Heinrich, V.; Schöpflin, R.; Nagel, I.; Gruchy, N.; Mundlos, S. et al.; Sreenivasan, V. K. A.; López, C.; Vingron, M.; Bukowska-Olech, E.; Spielmann, M.; Jamsheer, A.: Position effects at the FGF8 locus are associated with femoral hypoplasia. The American Journal of Human Genetics 108 (9), pp. 1725 - 1734 (2021)

Voisin, N.; Schnur, R. E.; Douzgou , S.; Hiatt, S. M.; Rustad, C. F.; Brown, N. J.; Earl, D. L.; Keren, B.; Levchenko, O.; Geuer, S. et al.; Verheyen, S.; Johnson , D.; Zarate, Y. A.; Hančárová, M.; Amor, D. J.; Bebin, E. M.; Blatterer, J.; Brusco, A.; Cappuccio, G.; Charrow, J.; Chatron, N.; Cooper, G. M.; Courtin, T.; Dadali, E.; Delafontaine, J.; Del Giudice, E.; Doco, M.; Douglas, G.; Eisenkölbl, A.; Funari, T.; Giannuzzi , G.; Gruber-Sedlmayr, U.; Guex, N.; Heron, D.; Holla, Ø. L.; Hurst, A. C. E.; Juusola, J.; Kronn, D.; Lavrov, A.; Lee, C.; Lorrain, S.; Merckoll, E.; Mikhaleva, A.; Norman, J.; Pradervand, S.; Prchalová, D.; Rhodes, L.; Sanders , V. R.; Sedláček, Z.; Seebacher , H. A.; Sellars, E. A.; Sirchia, F.; Takenouchi, T.; Tanaka, A. J.; Taska-Tench, H.; Tønne, E.; Tveten, K.; Vitiello, G.; Vlčková , M.; Uehara, T.; Nava, C.; Yalcin, B.; Kosaki, K.; Donnai, D.; Mundlos, S.; Brunetti-Pierri, N.; Chung, W. K.; Reymond, A.: 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), pp. 857 - 873 (2021)

Allou, L.; Balzano, S.; Magg, A.; Quinodoz, M.; Royer-Bertrand, B.; Schöpflin, R.; Chan, W.-L.; Speck-Martins, C. E.; Rocha Carvalho, D.; Farage, L. et al.; Marques Lourenço, C.; Albuquerque, R.; Rajagopal, S.; Nampoothiri, S.; Campos-Xavier, B.; Chiesa, C.; Niel-Bütschi, F.; Wittler, L.; Timmermann, B.; Spielmann, M.; Robson, M.; Ringel, A.; Heinrich, V.; Cova, G.; Andrey , G.; Prada-Medina, C. A.; Pescini-Gobert, R.; Unger, S.; Bonafé, L.; Grote, P.; Rivolta, C.; Mundlos, S.; Superti-Furga, A.: Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature 592 (7852), pp. 93 - 98 (2021)

de Los Santos, M. R.; Rivalan, M.; David, F. S.; Stumpf, A.; Pitsch, J.; Tsortouktzidis, D.; Moreno Velasquez, L.; Voigt, A.; Schilling, K.; Mattei, D. et al.; Long, M.; Vogt, G.; Knaus, A.; Fischer-Zirnsak, B.; Wittler, L.; Timmermann, B.; Robinson , P. N.; Horn, D.; Mundlos, S.; Kornak, U.; Becker, A. J.; Schmitz , D.; Winter, Y.; Krawitz, P. M.: 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)

Helmsauer, K.; Valieva, M.; Ali , S.; Chamorro González, R.; Schöpflin, R.; Röefzaad, C.; Bei, Y.; Dorado Garcia, H.; Rodriguez-Fos, E.; Puiggròs, M. et al.; Kasack, K.; Haase, K.; Keskeny, C.; Chen, C. Y.; Kuschel, L. P.; Euskirchen, P.; Heinrich, V.; Robson, M.; Rosswog, C.; Toedling, J.; Szymansky, A.; Hertwig, F.; Fischer, M.; Torrents, D.; Eggert, A.; Schulte, J. H.; Mundlos, S.; Henssen, A. G.; Koche, R. P.: Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications 11 (1), 5823 (2020)

Pantel, J. T.; Hajjir, N.; Danyel, M.; Elsner, J.; Abad-Perez, A. T.; Hansen, P.; Mundlos, S.; Spielmann, M.; Horn, D.; Ott, C.-E. et al.; Mensah, M. A.: 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)

Real, F. M.; Haas, S. A.; Franchini, P.; Xiong, P.; Simakov, O.; Kuhl, H.; Schöpflin, R.; Heller, D.; Moeinzadeh, M. H.; Heinrich, V. et al.; Krannich , T.; Bressin, A.; Hartmann, M. F.; Wudy, S. A.; Dechmann, D. K. N.; Hurtado, A.; Barrionuevo, F. J.; Schindler, M.; Harabula, I.; Osterwalder, M.; Hiller, M.; Wittler, L.; Visel, A.; Timmermann, B.; Meyer, A.; Vingron, M.; Jiménez, R.; Mundlos, S.; Lupiáñez, D. G.: The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science 370 (6513), pp. 208 - 214 (2020)

Suter , A.-A.; Santos-Simarro , F.; Mathiesen Toerring, P.; Abad Perez , A.; Ramos-Mejia, R.; Heath, K. E.; Huckstadt , V.; Parrón-Pajares, M.; Atta Mensah, M.; Hülsemann, W. et al.; Holtgrewe, M.; Mundlos, S.; Kornak, U.; Bartsch, O.; Ehmke, N.: Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. American Journal of Medical Genetics Part A 182 (9), pp. 2068 - 2076 (2020)

Melo, U. S.; Schöpflin, R.; Acuna-Hidalgo, R.; Mensah, M. A.; Fischer-Zirnsak, B.; Holtgrewe, M.; Klever, M.-K.; Türkmen, S.; Heinrich, V.; Datkhaeva Pluym, I. et al.; Matoso, E.; de Sousa, S. B.; Louro, P.; Hülsemann, W.; Cohen, M.; Dufke, A.; Latos-Bieleńska, A.; Vingron, M.; Kalscheuer, V.; Quintero-Rivera, F.; Spielmann, M.; Mundlos, S.: Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 106 (6), pp. 872 - 884 (2020)