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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)

Baudic, M.; Murata, H.; Bosada, F. M.; Melo, U. S.; Aizawa, T. e. a.: TAD boundary deletion causes PITX2-related cardiac electrical and structural defects. Nature Communications 15 (1), Article 3380 (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), Article 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)

Qiu, C.; Martin, B. K.; Welsh, I. C. e. a.; Spielmann, M.; Murray, S. A.; Trapnell, C.; Shendure, J.: A single-cell time-lapse of mouse prenatal development from gastrula to birth. Nature 626 (8001), pp. 1084 - 1093 (2024)

Balachandran, S.; Prada-Medina, C. A.; Mensah, M. A. e. a.; Spielmann, M.: STIGMA: Single-cell tissue-specific gene prioritization using machine learning. The American Journal of Human Genetics 111 (2), pp. 338 - 349 (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)

Allou, L.; Mundlos, S.: Disruption of regulatory domains and novel transcripts as disease-causing mechanisms. BioEssays 45, 2300010 (2023)

Khaveh, N.; Schachler, K.; Berghöfer, J.; Jung, K.; Metzger, J.: Altered hair root gene expression profiles highlight calcium signaling and lipid metabolism pathways to be associated with curly hair initiation and maintenance in Mangalitza pigs. Frontiers in Genetics 14, 1184015 (2023)

Melo, U. S.; Jatzlau, J.; Prada-Medina, C. A.; Flex, E.; Hartmann, S.; Ali, S.; Schöpflin, R.; Bernardini, L.; Ciolfi, A.; Moeinzadeh, H. et al.; Klever, M.-K.; Altay, A.; Vallecillo-García, P.; Carpentieri, G.; Delledonne, M.; Ort, M.-J.; Schwestka, M.; Battista Ferrero, G.; Tartaglia, M.; Brusco, A.; Gossen, M.; Strunk, D.; Geißler, S.; Mundlos, S.; Stricker, S.; Knaus, P.; Giorgio, E.; Spielmann, M.: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature Communications 14 (1), 2034 (2023)

Cova, G.; Glaser, J.; Schöpflin, R.; Ali, S.; Prada-Medina, C. A.; Franke, M.; Falcone, R.; Federer, M.; Ponzi, E.; Ficarella, R. et al.; Novara, F.; Wittler, L.; Timmermann, B.; Gentile, M.; Zuffardi, O.; Spielmann, M.; Mundlos, S.: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3. Nature Communications 14 (1), Article 1475 (2023)

Mensah, M. A.; Niskanen, H.; Magalhães, A. P.; Basu, S.; Kircher, M.; Sczakiel, H. L.; Reiter, A. M. V.; Elsner, J.; Meinecke, P.; Biskup, S. et al.; Chung, B. H. Y.; Dombrowsky, G.; Eckmann-Scholz, C.; Hitz, M. P.; Hoischen, A.; Holterhus, P.-M.; Hülsemann, W.; Kahrizi, K.; Kalscheuer, V. M.; Kan, A.; Krumbiegel, M.; Kurth, I.; Leubner, J.; Longardt, A. C.; Moritz, J. D.; Najmabadi, H.; Skipalova, K.; Snijders Blok, L.; Tzschach, A.; Wiedersberg, E.; Zenker, M.; Garcia-Cabau, C.; Buschow, R.; Salvatella, X.; Kraushar, M. L.; Mundlos, S.; Caliebe, A.; Spielmann, M.; Horn, D.; Hnisz, D.: Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 614 (7948), pp. 564 - 571 (2023)

Palmer, E. E.; Pusch, M.; Picollo, A.; Forwood, C.; Nguyen, M. H.; Suckow, V.; Gibbons, J.; Hoff, A.; Sigfrid, L.; Megarbane, A. et al.; Nizon, M.; Cogné, B.; Beneteau, C.; Alkuraya, F. S.; Chedrawi, A.; Hashem, M. O.; Stamberger, H.; Weckhuysen, S.; Vanlander, A.; Ceulemans, B.; Rajagopalan, S.; Nunn, K.; Arpin, S.; Raynaud, M.; Motter, C. S.; Ward-Melver, C.; Janssens, K.; Meuwissen, M.; Beysen, D. ....; Kalscheuer, V. M.: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry 28 (2), pp. 668 - 697 (2023)