Publications of Stefan Mundlos

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)

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)

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)

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), Article e2322360121 (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)

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)

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)

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)

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, 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)

González Álvarez, L. F.; Tenorio-Castaño, J.; Poletta, F. A.; Santos-Simarro, F.; Arias, P.; Gallego, N.; Orioli, I. M.; Mundlos, S.; Castilla, E. E.; Martínez-Glez, V. et al.; Martínez-Frías, M. L.; Ruiz-Pérez, V. L.; Nevado, J.; Lapunzina, P.: A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies. American Journal of Medical Genetics Part A 191 (1), 107, pp. 100 (2022)

Schöpflin, R.; Melo, U. S.; Moeinzadeh, M. H.; Heller, D.; Laupert, V.; Hertzberg, J.; Holtgrewe, M.; Alavi, N.; Klever, M.-K.; Jungnitsch, J. et al.; Comak, E.; Türkmen, S.; Horn, D.; Duffourd, Y.; Faivre, L.; Callier, P.; Sanlaville, D.; Zuffardi, O.; Tenconi, R.; Kurtas, N. E.; Giglio, S.; Prager, B.; Latos-Bielenska, A.; Vogel, I.; Bugge, M.; Tommerup, N.; Spielmann, M.; Vitobello, A.; Kalscheuer, V. M.; Vingron, M.; Mundlos, S.: Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature Communications 13 (1), 6470 (2022)