Publications

Hurtado, A.; Mota-Gómez, I.; Lao, M.; Real, F. M.; Jedamzick, J.; Burgos, M.; Lupiáñez, D. G.; Jiménez, R.; Barrionuevo, F. J.: Complete male-to-female sex reversal in XY mice lacking the miR-17~92 cluster. Nature Communications 15 (1), Article 3809 (2025)

Berghöfer, J.; Khaveh, N.; Mundlos, S.; Metzger, J.: Multi-tool copy number detection highlights common body size-associated variants in miniature pig breeds from different geographical regions. BMC Genomics 26 (1), Article 285 (2025)

Wang, M.; Di Pietro-Torres, A.; Feregrino, C.; Luxey, M.; Moreau, C.; Fischer, S.; Fages, A.; Ritz, D.; Tschopp, P.: Distinct gene regulatory dynamics drive skeletogenic cell fate convergence during vertebrate embryogenesis. Nature Communications 16 (1), Article 2187 (2025)

Kopp, J.; Jahn, D.; Vogt, G.; Psoma, A.; Ratto, E.; Morelle, W.; Stelzer, N.; Hausser , I.; Hoffmann, A.; de Los Santos, M. R. et al.; Koch, L. A.; Fischer-Zirnsak, B.; Thiel, C.; Palm, W.; Meierhofer, D.; van den Bogaart, G.; Foulquie, F.; Meinhardt, A.; Kornak, U.: Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia. Cellular and Molecular Life Sciences 82 (1), Article 4 (2024)

Aldrovandi, S.; Fajardo Castro, J.; Ullrich, K.; Karger, A.; Luria, V.; Tautz, D.: Expression of random sequences and de novo evolved genes from the mouse in human cells reveals functional diversity and specificity. Genome Biology and Evolution 16 (12), Article evae175 (2024)

Chan, W. L.; Bucher, C. H.; Goldes, J.; Ma, A. C.; Steiner, M.; Willie, B. M.; Mundlos, S.; Kornak, U.: Targeting TGF-β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica. Aging Cell 23 (12), Article e14322 (2024)

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)

Albert, J. R.; Urli, T.; Monteagudo-Sánchez, A.; Le Breton, A.; Sultanova, A.; David, A.; Scarpa, M.; Schulz, M.; Greenberg, M. V. C.: DNA methylation shapes the Polycomb landscape during the exit from naive pluripotency. Nature Structural & Molecular Biology (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)

Vallecillo-García , P.; Kühnlein, M. N.; Orgeur, M.; Hansmeier, N. R.; Kotsaris, G.; Meisen, Z. G.; Timmermann, B.; Giesecke-Thiel, C.; Hägerling, R.; Stricker, S.: Mesenchymal Osr1+ cells regulate embryonic lymphatic vessel formation. Development 151 (17), Article dev202747 (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), Article 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)

Pozojevic, J.; Sivaprasad , R.; Laß, J. e. a.; Spielmann, M.; Hornig, N. C.: LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome. Scientific Reports 14 (1), Article 16302 (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, Article 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)