Publications

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)

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)

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, 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, 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, pp. 668 - 697 (2023)

Meziane, H.; Birling, M.-C.; Wendling, O.; Leblanc, S.; Dubos, A.; Selloum , M.; Pavlovic, G.; Sorg, T.; Kalscheuer, V. M.; Billuart, P. et al.; Laumonnier, F.; Chelly, J.; van Bokhoven , H.; Herault, Y.: Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines 10 (12), 3148 (2022)

Leitão, E.; Schröder, C.; Parenti, I.; Dalle, C.; Rastetter, A.; Kühnel, T.; Kuechler, A.; Kaya, S.; Gérard, B.; Schaefer, E. et al.; Nava, C.; Drouot, N.; Engel, C.; Piard, J.; Duban-Bedu1, B.; Villard, L.; Stegmann, A. P. A.; Vanhoutte, E. K.; Verdonschot, J. A. J.; Kaiser, F. J.; Mau-Them, F. T.; Scala, M.; Striano, P.; Frints, S. G. M.; Argilli, E.; Sherr, E. H.; Elder, F.; Buratti, J.; Keren, B.; Mignot, C.; Héron, D.; Mandel, J.-L.; Gecz, J.; Kalscheuer, V. M.; Horsthemke, B.; Piton, A.; Depienne, C.: Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications 13 (1), 6570 (2022)

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, 62994 (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, 6470 (2022)

Schindler, M.; Osterwalder, M.; Harabula, I.; Wittler, L.; Tzika, A. C.; Dechmann, D.; Vingron, M.; Visel, A.; Haas, S.; Real, F. M.: Co-option of the transcription factor SALL1 in mole ovotestis formation. bioRxiv, 514220 (2022)

Ringel, A.; Szabo, Q.; Chiariello, A. M.; Chudzik, K.; Schöpflin, R.; Rothe, P.; Mattei, A. L.; Zehnder, T.; Harnett, D.; Laupert, V. et al.; Bianco, S.; Hetzel, S.; Glaser, J.; Phan, M. H. Q.; Schindler, M.; Ibrahim, D. M.; Paliou, C.; Esposito, A.; Prada-Medina, C. A.; Haas, S. A.; Giere, P.; Vingron, M.; Wittler, L.; Meissner, A.; Nicodemi, M.; Cavalli, G.; Bantignies, F.; Mundlos, S.; Robson, M. I.: Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes. Cell 185 (20), e21, pp. 3689 - 3704 (2022)

Kornak, U.; Saha, N.; Keren, B.; Neumann, A.; Taylor Tavares, A. L.; Piard, J.; Kopp, J.; Rodrigues Alves, J. G.; de los Santos, M. R.; El Choubassi, N. et al.; Ehmke, N.; Jäger, M.; Spielmann, M.; Pantel, J. T.; Lejeune, E.; Fauler, B.; Mielke, T.; Hecht, J.; Meierhofer, D.; Strom, T. M.; Laugel, V.; Brice, A.; Mundlos, S.; Bertoli-Avella, A.; Bauer, P.; Heyd, F.; Boute, O.; Dupont, J.; Depienne, C.; Van Maldergem, L.; Fischer-Zirnsak, B.: Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. GENETICS IN MEDICINE 24 (9), pp. 1927 - 1940 (2022)

Boschann, F.; Cogulu, M. Ö.; Pehlivan, D.; Balachandran, S.; Vallecillo-Garcia, P.; Grochowski, C. M.; Hansmeier, N. R.; Coban Akdemir, Z. H.; Prada-Medina, C. A.; Aykut, A. et al.; Fischer-Zirnsak, B.; Badura, S.; Durmaz, B.; Ozkinay, F.; Hägerling, R.; Posey, J. E.; Stricker, S.; Gillessen-Kaesbach, G.; Spielmann, M.; Horn, D.; Brockmann, K.; Lupski, J. R.; Kornak, U.; Schmidt, J.: Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. GENETICS IN MEDICINE, S1098-3600(22)00849-8 (2022)

May, V.; Koch, L.; Fischer-Zirnsak, B.; Horn, D.; Gehle , P.; Kornak, U.; Beule, D.; Holtgrewe, M.: ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise. Bioinformatics 38, pp. 3871 - 3876 (2022)

Berghöfer, J.; Khaveh, N.; Mundlos, S.; Metzger, J.: Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs. BMC Genomics 23, 564 (2022)

Heck, R.; Fischer-Zirnsak, B.; Photiadis, J.; Horn, D.; Gehle, P.: Different ascending aortic phenotypes with similar mutations in two patients with Loeys-Dietz-Syndrome type 2. Interactive CardioVascular and Thoracic Surgery 35 (1), ivac159 (2022)

Oheim, R.; Tsourdi , E.; Seefried , L.; Beller , G.; Schubach , M.; Vettorazzi , E.; Stürznickel, J.; Rolvien , T.; Ehmke , N.; Delsmann , A. et al.; Genest, F.; Krüger, U.; Zemojtel , T.; Barvencik , F.; Schinke , T.; Jakob, F.; Hofbauer, L. C.; Mundlos, S.; Kornak, U.: Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. Journal of Clinical Endocrinology and Metabolism 107 (7), pp. e3048 - e3057 (2022)