Publications

Lo, B.-W.; Lin, H.-F.; Kong, S.-W.; Wu, W.-J.; Peng, Y.-L.; Wang, S. C.-L.; Lu, X.; Wang, H.-Y.: Genomes of Wiebesia fig wasps reveal the adaptation and codiversification in the fig-fig wasp mutualism. Genome Biology and Evolution (2026)

Ringel, A. R.; Benetti, N.; Magg, A.; Groll, F.; Schöpflin, R.; Kühnlein, M.; Stiege, A. C.; Fischer, U.; Wittler, L.; Game, L. et al.; Lorenz, S.; Young, G.; Mundlos, S.; Allou, L.: Temporal loss ofEn1during limb development causes distinct phenotypes. Genes & Development (2026)

Boschann, F.; Kopp, J.; Römer, S.; Küchler, O.; Lyubenova, H.; von Kügelgen, N.; Hertstein, E.; Hagelstein, L.; Becker, C.; Becker, K. et al.; Brachs, S.; Mai, K.; Meierhofer, D.; Seelow, D.; Mundlos, S.; Horn, D.; Schuelke, M.; Fischer-Zirnsak, B.: A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics. npj Genomic Medicine 11, 20 (2026)

Bell, C. C.; de Boer, C. G.; Camellato, B. R.; Delás, M. J.; Ibrahim, D. M.; Montgomery, M. T.: How to build the regulatory genome: a constructionist guide to the cis-regulatory code. Development 153 (2026)

Rezvani, M.; Quach, S.; Lewis, K.; Saiki, N.; Xue, C.; Kimura, M.; Iwasawa, K.; Weihs, J.; Elzobair, T.; Al Reza, H. et al.; Cai, Y.; Zhang, R.; Milton, Y.; Chaturvedi, P.; Thorner, K.; Nayak, R. C.; Munera, J.; Kramer, P.; Davis, B. R.; Balamurugan, A. N.; Ahmed, Y. A.; Finke, M.; Behncke, R. Y.; Guillot, A.; Hägerling, R.; Polansky, J. K.; Bufler, P.; Cancelas, J. A.; Zorn, A.; Wells, J. M.; Yoshimoto, M.; Takebe, T.: Modeling Immune Lineage Co-Development in Human Pluripotent Stem Cell-derived Liver Organoids. Journal of Hepatology (2025)

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)