Publications

Szalay , M.-F.; Majchrzycka, B.; Jerković, I.; Cavalli, G.; Ibrahim, D. M.: Evolution and function of chromatin domains across the tree of life. Nature Structural & Molecular Biology 31 (12), pp. 1824 - 1837 (2024)

Longo , G. M. C.; Sayols, S.; Stefanova, M. E.; Xie, T.; Elsayed, W.; Panagi , A.; Stavridou, A. I.; Petrosino, G.; Ing-Simmons, E.; Melo, U. S. et al.; Gothe, H. J.; Vaquerizas, J. M.; Kotini , A. G.; Papantonis, A.; Mundlos, S.; Roukos , V.: Type II topoisomerases shape multi-scale 3D chromatin folding in regions of positive supercoils. Molecular Cell 84 (22), pp. 4267 - 4281 (2024)

Khaveh, N.; Buschow, R.; Metzger, J.: Deciphering transcriptome patterns in porcine mesenchymal stem cells promoting phenotypic maintenance and differentiation by key driver genes. Frontiers in Cell and Developmental Biology 12, Article 1478757 (2024)

Maroofian, R.; Pagnamenta, A. T.; Navabazam, A.; Schwessinger, R.; Roberts, H. E.; Lopopolo, M.; Dehghani, M.; Mehrjardi, M. Y. V.; Haerian, A.; Soltanianzadeh, M. et al.; Kooshki, M. H. N.; Knight, S. J. L.; Miller, K. A.; McGowan, S. J.; Chatron, N.; Timberlake, A. T.; Melo, U. S.; Mundlos, S.; Buck, D.; Twigg, S. R. F.; Taylor , J. C.; Wilkie, A. O. M.; Calpena, E.: Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus. HGG Advances: Human Genetics and Genomics Advances 5 (4), Article 100352 (2024)

Mitscherling, J.; Sczakiel, H. L.; Kiskemper-Nestorjuk, O.; Winterhalter, S.; Mundlos, S.; Bartzela, T.; Mensah, M. A.: Whole genome sequencing in families with oligodontia. Oral Diseases 30 (6), pp. 3935 - 3950 (2024)

Lister, N. C.; Milton, A. M.; Patel, H. R.; Waters, S. A.; Hanrahan, B. J.; McIntyre, K. L.; Livernois, A. M.; Horspool, W. B.; Wee, L. K.; Ringel, A. R. et al.; Mundlos, S.; Robson, M. I.; Shearwin-Whyatt, L.; Grützner, F.; Marshall Graves, J. A.; Ruiz-Herrera, A.; Waters, P. D.: Incomplete transcriptional dosage compensation of chicken and platypus sex chromosomes is balanced by post-transcriptional compensation. PNAS 121 (32), e2322360121 (2024)

Dimartino, P.; Zadorozhna, M.; Yumiceba, V.; Basile, A.; Cani, I.; Melo, U. S.; Henck, J.; Breur, M.; Tonon, C.; Lodi, R. et al.; Brusco, A.; Pippucci, T.; Koufi, F.-D.; Boschetti, E.; Ramazzotti, G.; Manzoli, L.; Ratti, S.; Vairo, F. P. E.; Delatycki, M. B.; Vaula, G.; Cortelli, P.; Bugiani, M.; Spielmann, M.; Giorgio, E.: Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy. Annals of Neurology 96 (5), pp. 855 - 870 (2024)

Hramyka, D.; Sczakiel, H. L.; Zhao, M. X.; Stolpe, O.; Nieminen, M.; Adam, R.; Danyel, M.; Einicke, L.; Hägerling, R.; Knaus, A. et al.; Mundlos, S.; Schwartzmann, S.; Seelow, D.; Ehmke, N.; Mensah, M. A.; Boschann, F.; Beule, D.; Holtgrewe, M.: REEV: review, evaluate and explain variants. Nucleic Acids Research 52 (W1), pp. W148 - W158 (2024)

Oliveira, D.; Assoni, A. F.; Alves, L. M.; Sakugawa, A.; Melo, U. S.; Teles e Silva, A. L.; Sertie, A. L.; Caires, L. C.; Goulart, E.; Ghirotto, B. et al.; Carvalho, V. M.; Ferrari, M. R.; Zatz, M.: ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons. Neurobiology of Disease 198, 106540 (2024)

Kopp, J.; Koch, L. A.; Lyubenova, H.; Küchler, O.; Holtgrewe, M.; Ivanov, A.; Dubourg, C.; Launay, E.; Brachs, S.; Mundlos, S. et al.; Ehmke, N.; Seelow, D.; Fradin, M.; Kornak, U.; Fischer-Zirnsak, B.: Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy. Human Genetics 143 (5), pp. 683 - 694 (2024)

Spira, D.; Herbst, S.; Schwartzmann, S.; Dutrannoy, V.; Steinhagen-Thiessen, E.; Demuth, I.; Maurer, L.; Mai, K.; Spranger, J.; Mundlos, S. et al.; Bobbert, T.: A Novel Variant in the WRN Gene Detected in a Case of Early-Onset Severe Insulin Resistance Displaying Some but Not All Hallmarks of Progeroid Werner Syndrome. Diabetes Care 47 (5), pp. 798 - 802 (2024)

Phan, M. H. Q.; Zehnder, T.; Puntieri, F.; Lo, B.-W.; Lenhard, B.; Mueller, F.; Vingron, M.; Ibrahim, D. M.: Conservation of Regulatory Elements with Highly Diverged Sequences Across Large Evolutionary Distances. bioRxiv (2024)

Ibrahim, D. M.: Enhancer contacts during embryonic development show diverse interaction modes and modest yet significant increases upon gene activation. Nature Genetics 56 (4), pp. 558 - 560 (2024)

Raaz, L.; Mendez, P.-L.; Mundlos, S.; Knaus, P.; Jatzlau, J.: Protocol for chromatin accessibility profiling of human endothelial cells cultured under fluid shear stress using ATAC-seq. STAR Protocols 5 (1), 102859 (2024)

Lo, B.-W.; Martinez Real, F.; Magg, A.; Wise, J.; Mundlos, S.; Franchini, P.: Genome-wide demographic analyses of balaenid whales revealed complex history of gene flow associated with past climate oscillation. bioRxiv (2024)

Courraud, J.; Engel, C.; Quartier, A.; Drouot, N.; Houessou, U.; Plassard, D.; Sorlin, A.; Brischoux-Boucher, E.; Gouy, E.; Van Maldergem, L. et al.; Rossi, M.; Lesca, G.; Edery, P.; Putoux, A.; Bilan, F.; Gilbert-Dussardier, B.; Atallah, I.; Kalscheuer, V. M.; Mandel, J.-L.; Piton, A.: Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome. Molecular Psychiatry 29 (2), pp. 287 - 296 (2023)

Huang, X.; Henck, J.; Qiu, C.; Sreenivasan, V. K. A.; Balachandran, S.; Amarie, O. V.; de Angelis, M. H.; Behncke, R. Y.; Chan, W.-L.; Despang, A. et al.; Dickel, D. E.; Duran, M.; Feuchtinger, A.; Fuchs, H.; Gailus-Durner, V.; Haag, N.; Hägerling, R.; Hansmeier, N.; Hennig, F.; Marshall, C.; Rajderkar, S.; Ringel, A.; Robson, M. I.; Saunders, L. M.; da Silva-Buttkus, P.; Spielmann, N.; Srivatsan, S. R.; Ulferts, S.; Wittler, L.; Zhu, Y.; Kalscheuer, V. M.; Ibrahim, D. M.; Kurth, I.; Kornak, U.; Visel, A.; Pennacchio, L. A.; Beier, D. R.; Trapnell, C.; Cao, J.; Shendure, J.; Spielmann, M.: Single-cell, whole-embryo phenotyping of mammalian developmental disorders. Nature 623 (7988), pp. 772 - 781 (2023)

Klever, M.-K.; Sträng , E.; Hetzel, S.; Jungnitsch, J.; Dolnik, A.; Schöpflin, R.; Schrezenmeier, J.-F.; Schick, F.; Blau, O.; Westermann, J. et al.; Rücker , F. G. ..; Xia, Z.; Döhner, K.; Schrezenmeier, H.; Spielmann, M.; Meissner, A.; Melo, U. S.; Mundlos, S.; Bullinger, L.: AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology. Blood Advances 7 (21), pp. 6520 - 6531 (2023)

Jatzlau, J.; Mendez, P.-L.; Altay, A.; Raaz, L.; Zhang, Y.; Mähr, S.; Sesver, A.; Reichenbach, M.; Mundlos, S.; Vingron, M. et al.; Knaus, P.: Fluid shear stress-modulated chromatin accessibility reveals the mechano-dependency of endothelial SMAD1/5-mediated gene transcription. iScience 26 (9), 107405 (2023)

Stefanova, M. E.; Ing-Simmons, E.; Stefanov, S.; Flyamer, I.; Garcia, H. D.; Schöpflin, R.; Henssen, A. G.; Vaquerizas, J. M.; Mundlos, S.: Doxorubicin Changes the Spatial Organization of the Genome around Active Promoters. Cells 12 (15), 2001 (2023)