Publications

Funk, E. M.; Jafree, D. J.; Hansmeier, N. R.; Abad Baucells, C.; Behncke, R. Y.; Pomeranz, G.; Kolatsi-Joannou, M.; Mason, W. J.; Moulding, D.; Russell, L. G. et al.; Subramanian, A.; Ulferts, S.; Wilson, L.; Long, D. A.; Hägerling, R.: Nanobody Immunolabelling and three-dimensional imaging reveals spatially restricted LYVE1 expression by kidney lymphatic vessels in mice. Journal of Nanobiotechnology 23, 667 (2025)

Jacobs, J.; Lyubenova, H.; Potelle, S.; Kopp, J.; Gerin, I.; Chan, W. L.; Rodriguez de los Santos, M.; Hülsemann, W.; Mensah, M. A.; Cormier-Daire, V. et al.; Joosten, M.; Bruggenwirth, H. T.; Stuurman, K. E.; Miranda, V.; Campeau, P. M.; Wittler, L.; Graff, J.; Mundlos, S.; Ibrahim, D. M.; Van Schaftingen, E.; Fischer-Zirnsak, B.; Kornak, U.; Ehmke, N.; Bommer, G. T.: A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia. Nature (2025)

Garrett, A.; Kalscheuer, V. M.; Figueroa, R. R.; Palmer, E. E.; Morgan, A. T.: CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities. American Journal of Medical Genetics Part A (2025)

Schindler, M.; Feregrino, C.; Aldrovandi, S.; Lo, B.-W.; Monaco, A. A.; Ringel, A. R.; Morales, A. E.; Zehnder, T.; Behncke, R. Y.; Glaser, J. et al.; Barclay, A.; Andrey, G.; Kragesteen, B. K.; Hägerling, R.; Haas, S.; Vingron, M.; Ulitsky, I.; Marti-Renom, M. A.; Hechavarria, J.; Fasel, N.; Hiller, M.; Lupiáñez, D. G.; Mundlos, S.; Martinez Real, F.: Comparative single-cell analyses reveal evolutionary repurposing of a conserved gene programme in bat wing development. Nature Ecology & Evolution (2025)

Glaser, J.; Cova, G.; Fauler, B.; Prada-Medina, C. A.; Stanislas, V.; Phan, M. H. Q.; Schöpflin, R.; Aktas, Y.; Franke, M.; Andrey, G. et al.; Paliou, C.; Laupert, V.; Chan, W.-L.; Wittler, L.; Mielke, T.; Mundlos, S.: Enhancer adoption by an LTR retrotransposon generates viral-like particles causing developmental limb phenotypes. Nature Genetics 57, pp. 1766 - 1776 (2025)

Nordin, A.; Chakraborty, C.; Jonasson, M.; Dano, O.; Zambanini, G.; Pagella, P.; Remeseiro, S.; Cantù, C.: Wnt signaling activation induces CTCF binding and loop formation atcis-regulatory elements of target genes. Genome Research 35, pp. 1701 - 1716 (2025)

Groeneweg, S.; van Geest, F. S.; van der Most, F.; Abela, L.; Alfieri, P.; Bauer, A. J.; Bertini, E.; Cappa, M.; Çelik, N.; de Coo, I. F. M. et al.; Dolcetta-Capuzzo, A.; Dubinski, I.; Granadillo, J. L.; Hoefsloot, L. H.; Kalscheuer, V. M.; van der Knoop, M. M.; Krude, H.; McNerney, K. P.; Paone, L.; Peeters, R. P.; Peters, C.; Schuelke, M.; Schweizer, U.; Sprague, J. E.; van Trotsenburg, A. S. P.; Wilpert, N.-M.; Zanni, G.; van Zutven, L. J. C. M.; Visser, W. E.: MCT8 deficiency in females. Journal of Clinical Endocrinology and Metabolism (2025)

Phan, M. H. Q.; Zehnder, T.; Puntieri, F.; Magg, A.; Majchrzycka, B.; Antonović, M.; Wieler, H. M.; Lo, B.-W.; Baranasic, D.; Lenhard, B. et al.; Müller, F.; Vingron, M.; Ibrahim, D. M.: Conservation of regulatory elements with highly diverged sequences across large evolutionary distances. Nature Genetics 57, pp. 1524 - 1534 (2025)

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)

Lo, B.-W.; Martinez Real, F.; Magg, A.; Wise Sr., J.; Mundlos, S.; Franchini, P.: Genome-wide demographic analyses of balaenid whales revealed complex history of gene flow associated with past climate oscillation. Genome Biology and Evolution 17 (5), Article evaf081 (2025)

Damiani, F.; Giuliano, M. G.; Cornuti, S.; Putignano, E.; Tognozzi, A.; Suckow, V.; Kalscheuer, V. M.; Pizzorusso, T.; Tognini, P.: Multi-site investigation of gut microbiota in CDKL5 deficiency disorder mouse models: Targeting dysbiosis to improve neurological outcomes. Cell Reports 44 (4), Article 115546 (2025)

Altendorfer, E.; Mundlos, S.; Mayer, A.: A transcription coupling model for how enhancers communicate with their target genes. Nature Structural & Molecular Biology 32 (4), pp. 598 - 606 (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)

Dekker, J.; Schot, R.; Aldinger, K. A.; Everman, D. B.; Washington, C.; Jones, J. R.; Sullivan, J. A.; Spillmann, R. C.; Shashi, V.; Vitobello, A. et al.; Denommé-Pichon, A.-S.; Mosca-Boidron, A.-L.; Perrin, L.; Auvin, S.; Zaki, M. S.; Gleeson, J. G.; Meave, N.; Wallace, C.; Nambot, S.; Delanne, J.; Ruggiero, S. M.; Helbig, I.; Fitzgerald, M. P.; Leventer, R. J.; Grange, D. K.; Argilli, E.; Sherr, E. H.; Prakash, S.; Neilson, D. E.; Nicita, F.; Sferra, A.; Bertini, E. S.; Aiello, C.; Brockmann, K.; Kuranov, A. B.; Kaulfuss, S.; Basit, S.; Alluqmani, M.; Almatrafi, A.; Friedman, J. M.; Guimond, C.; Mohammed, F.; Sharma, P.; Goel, D.; Wirth, T.; Anheim, M.; Bahena, P.; Koparir, A.; Kolokotronis, K.; Vona, B.; Haaf, T.; Kunstmann, E.; Maroofian, R.; Sczakiel, H. L.; Boschann, F.; Misra-Isrie, M.; Louie, R. J.; Stolerman, E. S.; Sanchez-Lara, P. A.; Mergler, S.; Oegema, R.; Zarate, Y. A.; Kariminejad, A.; Tajsharghi, H.; Zeidler, S.; Kievit, A. J.A.; Bouman, A.; Cappuccio, G.; Brunetti-Pierri, N.; Stuurman, K. E.; Swols, D. M.; Tekin, M.; Upadia, J.; Martin, D. M.; Craven, D.; Hiatt, S. M.; van de Pol, L. A.; D'Arco, F.; Margot, H.; Wilke, M.; Yousefi, S.; Barakat, T. S.; van Veghel-Plandsoen, M. M.; Aronica, E.; Anink, J.; Rogers, S. L.; Slep, K. C.; Doherty, D.; Dobyns, W. B.; Mancini, G. M.S.: A clinical and genotype-phenotype analysis of MACF1 variants. The American Journal of Human Genetics 112, pp. 2363 - 2380 (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)