Max Planck Institute for Molecular Genetics

Publications

The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.

Publications by the Mundlos Lab

Preprints

If preprints are available, they will be listed here.

2025

Khaveh, N.; Berghöfer, J.; Ralph, B.; Buschow, R.; Cirksena, K.; Drögemüller, C.; Fatima, A.; Grabert, G.; Gerold, G.; Grahofer, A. et al.; Herwig, R.; Jung, K.; Kacprowski, T.; Lo, B.-W.; Sardoabi, R. S.; Vingron, M.; Mundlos, S.; Metzger, J.: Integrative multi-omics analysis of growth plate regulation underlying body size in miniature pigs. Research Square (2025)

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Majchrzycka, B.; Mundlos, S.; Krebs, A. R.; Ibrahim, D. M.: Enhancer-promoter compatibility is mediated by the promoter-proximal region. bioRxiv: the preprint server for biology (2025)

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Alavi, N.; Moeinzadeh, H.; Hertzberg, J.; Melo, U. S.; Al Raei, L.; Infantino, P.; Ghareghani, M.; Savarese, M.; Mundlos, S.; Vingron, M.: Accurate detection of pathogenic structural variants guided by multi-platform comparison. bioRxiv: the preprint server for biology (2025)

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Chudzik, K.; Guerreiro, I.; Kefalopoulou, S.; Abraham, A.; Schindler, M.; Ringel, A. R.; Nicodemi, M.; Chiariello, A. M.; Mundlos, S.; Kind, J. et al.; Robson, M. I.: Reconfiguration of genome-lamina interactions marks the commissioning of limb cell-fates. bioRxiv (2025)

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Published

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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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

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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)

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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)

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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)

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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 191 (1), 107, pp. 100 (2022)

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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)

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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), pp. 3689 - 3704 (2022)

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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)

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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)

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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)

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Real, F. M.; Lao-Pérez, M.; Burgos, M.; Mundlos, S.; Lupiáñez, D. G.; Jiménez, R.; Barrionuevo, F. J.: Cell adhesion and immune response, two main functions altered in the transcriptome of seasonally regressed testes of two mammalian species. Journal of Experimental Zoology Part B-Molecular and Developmental Evolution 2022, 14 (2022)

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Hertzberg, J.; Mundlos, S.; Vingron, M.; Gallone, G.: TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs. Genome Biology 23 (1), 67 (2022)

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Lybaek, H.; Robson, M.; de Leeuw, N.; Hehir-Kwa, J. Y.; Jeffries, A.; Haukanes, B. I.; Berland, S.; de Bruijn, D.; Mundlos, S.; Spielmann, M. et al.; Houge, G.: LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. Autism Research 15 (3), pp. 421 - 433 (2022)

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Boschann, F.; Moreno, D. A.; Mensah, M. A.; Sczakiel, H. L.; Skipalova , K.; Holtgrewe , M.; Mundlos, S.; Fischer-Zirnsak, B.: Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome). Journal of Human Genetics 67 (7), pp. 405 - 410 (2022)

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supplementary-material

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Gjaltema, R. A. F.; Schwämmle, T.; Kautz, P.; Robson, M.; Schöpflin, R.; Ravid Lustig, L.; Brandenburg, L.; Dunkel, I.; Vechiatto, C.; Ntini, E. et al.; Mutzel, V.; Schmiedel, V.; Marsico, A.; Mundlos, S.; Schulz, E. G.: Distal and proximal cis-regulatory elements sense X-chromosomal dosage and developmental state at the Xist locus. Molecular Cell 82 (1), pp. 190 - 208 (2022)

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2021

Hung, K. L.; Yost, K. E.; Xie, L.; Shi, Q.; Helmsauer, K.; Luebeck, J.; Schöpflin, R.; Lange, J. T.; Chamorro González, R.; Weiser, N. E. et al.; Chen, C.; Valieva, M.; Wong, I. T.-L.; Wu, S.; Dehkordi, S. R.; Duffy, C. V.; Kraft, K.; Tang, J.; Belk, J. A.; Rose, J. C.; Corces, M. R.; Granja, J. M.; Li, R.; Rajkumar, U.; Friedlein, J.; Bagchi, A.; Satpathy, A. T.; Tjian, R.; Mundlos, S.; Bafna, V.; Henssen, A. G.; Mischel, P. S.; Liu, Z.; Chang, H. Y.: ecDNA hubs drive cooperative intermolecular oncogene expression. Nature 600 (7890), pp. 731 - 736 (2021)

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Melo, U. S.; Piard, J.; Fischer-Zirnsak, B.; Klever, M.-K.; Schöpflin, R.; Atta Mensah, M.; Holtgrewe, M.; Arbez-Gindre, F.; Martin, A.; Guigue, V. et al.; Gaillard, D.; Landais, E.; Roze, V.; Kremer, V.; Ramanah, R.; Cabrol, C.; Harms, F. L.; Kornak, U.; Spielmann, M.; Mundlos, S.; Van Maldergem, L.: Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics 140 (10), pp. 1459 - 1469 (2021)

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Socha, M.; Sowińska-Seidler, A.; Melo, U. S.; Kragesteen, B. K.; Franke, M.; Heinrich, V.; Schöpflin, R.; Nagel, I.; Gruchy, N.; Mundlos, S. et al.; Sreenivasan, V. K. A.; López, C.; Vingron, M.; Bukowska-Olech, E.; Spielmann, M.; Jamsheer, A.: Position effects at the FGF8 locus are associated with femoral hypoplasia. The American Journal of Human Genetics 108 (9), pp. 1725 - 1734 (2021)

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Voisin, N.; Schnur, R. E.; Douzgou , S.; Hiatt, S. M.; Rustad, C. F.; Brown, N. J.; Earl, D. L.; Keren, B.; Levchenko, O.; Geuer, S. et al.; Verheyen, S.; Johnson , D.; Zarate, Y. A.; Hančárová, M.; Amor, D. J.; Bebin, E. M.; Blatterer, J.; Brusco, A.; Cappuccio, G.; Charrow, J.; Chatron, N.; Cooper, G. M.; Courtin, T.; Dadali, E.; Delafontaine, J.; Del Giudice, E.; Doco, M.; Douglas, G.; Eisenkölbl, A.; Funari, T.; Giannuzzi , G.; Gruber-Sedlmayr, U.; Guex, N.; Heron, D.; Holla, Ø. L.; Hurst, A. C. E.; Juusola, J.; Kronn, D.; Lavrov, A.; Lee, C.; Lorrain, S.; Merckoll, E.; Mikhaleva, A.; Norman, J.; Pradervand, S.; Prchalová, D.; Rhodes, L.; Sanders , V. R.; Sedláček, Z.; Seebacher , H. A.; Sellars, E. A.; Sirchia, F.; Takenouchi, T.; Tanaka, A. J.; Taska-Tench, H.; Tønne, E.; Tveten, K.; Vitiello, G.; Vlčková , M.; Uehara, T.; Nava, C.; Yalcin, B.; Kosaki, K.; Donnai, D.; Mundlos, S.; Brunetti-Pierri, N.; Chung, W. K.; Reymond, A.: Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. The American Journal of Human Genetics 108 (5), pp. 857 - 873 (2021)

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Allou, L.; Balzano, S.; Magg, A.; Quinodoz, M.; Royer-Bertrand, B.; Schöpflin, R.; Chan, W.-L.; Speck-Martins, C. E.; Rocha Carvalho, D.; Farage, L. et al.; Marques Lourenço, C.; Albuquerque, R.; Rajagopal, S.; Nampoothiri, S.; Campos-Xavier, B.; Chiesa, C.; Niel-Bütschi, F.; Wittler, L.; Timmermann, B.; Spielmann, M.; Robson, M.; Ringel, A.; Heinrich, V.; Cova, G.; Andrey , G.; Prada-Medina, C. A.; Pescini-Gobert, R.; Unger, S.; Bonafé, L.; Grote, P.; Rivolta, C.; Mundlos, S.; Superti-Furga, A.: Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature 592 (7852), pp. 93 - 98 (2021)

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de Los Santos, M. R.; Rivalan, M.; David, F. S.; Stumpf, A.; Pitsch, J.; Tsortouktzidis, D.; Moreno Velasquez, L.; Voigt, A.; Schilling, K.; Mattei, D. et al.; Long, M.; Vogt, G.; Knaus, A.; Fischer-Zirnsak, B.; Wittler, L.; Timmermann, B.; Robinson , P. N.; Horn, D.; Mundlos, S.; Kornak, U.; Becker, A. J.; Schmitz , D.; Winter, Y.; Krawitz, P. M.: A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Proceedings of the National Academy of Sciences of the United States of America 118 (2), e2014481118 (2021)

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Vogt, G.; El Choubassi, N.; Herczegfalvi, Á.; Kölbel, H.; Lekaj, A.; Schara, U.; Holtgrewe, M.; Krause, S.; Horvath, R.; Schuelke, M. et al.; Hübner, C.; Mundlos, S.; Roos, A.; Lochmüller, H.; Karcagi, V.; Kornak, U.; Fischer-Zirnsak, B.: Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. Journal of Inherited Metabolic Disease 44, pp. 972 - 986 (2021)

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2020

Helmsauer, K.; Valieva, M.; Ali , S.; Chamorro González, R.; Schöpflin, R.; Röefzaad, C.; Bei, Y.; Dorado Garcia, H.; Rodriguez-Fos, E.; Puiggròs, M. et al.; Kasack, K.; Haase, K.; Keskeny, C.; Chen, C. Y.; Kuschel, L. P.; Euskirchen, P.; Heinrich, V.; Robson, M.; Rosswog, C.; Toedling, J.; Szymansky, A.; Hertwig, F.; Fischer, M.; Torrents, D.; Eggert, A.; Schulte, J. H.; Mundlos, S.; Henssen, A. G.; Koche, R. P.: Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications 11 (1), 5823 (2020)

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Pantel, J. T.; Hajjir, N.; Danyel, M.; Elsner, J.; Abad-Perez, A. T.; Hansen, P.; Mundlos, S.; Spielmann, M.; Horn, D.; Ott, C.-E. et al.; Mensah, M. A.: Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study. Journal of Medical Internet Research (JMIR) 22 (10), e19263 (2020)

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Real, F. M.; Haas, S. A.; Franchini, P.; Xiong, P.; Simakov, O.; Kuhl, H.; Schöpflin, R.; Heller, D.; Moeinzadeh, M. H.; Heinrich, V. et al.; Krannich , T.; Bressin, A.; Hartmann, M. F.; Wudy, S. A.; Dechmann, D. K. N.; Hurtado, A.; Barrionuevo, F. J.; Schindler, M.; Harabula, I.; Osterwalder, M.; Hiller, M.; Wittler, L.; Visel, A.; Timmermann, B.; Meyer, A.; Vingron, M.; Jiménez, R.; Mundlos, S.; Lupiáñez, D. G.: The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science 370 (6513), pp. 208 - 214 (2020)

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Suter , A.-A.; Santos-Simarro , F.; Mathiesen Toerring, P.; Abad Perez , A.; Ramos-Mejia, R.; Heath, K. E.; Huckstadt , V.; Parrón-Pajares, M.; Atta Mensah, M.; Hülsemann, W. et al.; Holtgrewe, M.; Mundlos, S.; Kornak, U.; Bartsch, O.; Ehmke, N.: Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. American Journal of Medical Genetics Part A 182 (9), pp. 2068 - 2076 (2020)

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Melo, U. S.; Schöpflin, R.; Acuna-Hidalgo, R.; Mensah, M. A.; Fischer-Zirnsak, B.; Holtgrewe, M.; Klever, M.-K.; Türkmen, S.; Heinrich, V.; Datkhaeva Pluym, I. et al.; Matoso, E.; de Sousa, S. B.; Louro, P.; Hülsemann, W.; Cohen, M.; Dufke, A.; Latos-Bieleńska, A.; Vingron, M.; Kalscheuer, V.; Quintero-Rivera, F.; Spielmann, M.; Mundlos, S.: Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 106 (6), pp. 872 - 884 (2020)

MPG.PuRe

Basu, S.; Mackowiak, S.; Niskanen, H.; Knezevic, D.; Asimi, V.; Grosswendt, S.; Geertsema, H.; Ali, S.; Jerković, I.; Ewers, H. et al.; Mundlos, S.; Meissner, A.; Ibrahim, D. M.; Hnisz, D.: Unblending of Transcriptional Condensates in Human Repeat Expansion Disease. Cell 181 (5), pp. 1062 - 1079 (2020)

MPG.PuRe

publisher-version

Ibrahim, D. M.; Mundlos, S.: The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization. Current Opinion in Genetics & Development 61, pp. 1 - 8 (2020)

MPG.PuRe

2019

Despang, A.; Schöpflin, R.; Franke, M.; Ali, S.; Jerković, I.; Paliou, C.; Chan, W.-L.; Timmermann, B.; Wittler, L.; Vingron, M. et al.; Mundlos, S.; Ibrahim, D. M.: Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature Genetics 51 (8), pp. 1263 - 1271 (2019)

MPG.PuRe

publisher-version

Robson, M. I.; Ringel, A. R.; Mundlos, S.: Regulatory Landscaping: How Enhancer-Promoter Communication Is Sculpted in 3D. Molecular Cell 74 (6), pp. 1110 - 1122 (2019)

MPG.PuRe

publisher-version

Paliou, C.; Guckelberger, P.; Schöpflin, R.; Heinrich, V.; Esposito, A.; Chiariello, A. M.; Bianco, S.; Annunziatella, C.; Helmuth, J.; Haas, S. et al.; Jerković, I.; Brieske, N.; Wittler, L.; Timmermann, B.; Nicodemi, M.; Vingron, M.; Mundlos, S.; Andrey, G.: Preformed Chromatin Topology Assists Transcriptional Robustness of Shh during Limb Development. Proceedings of the National Academy of Sciences of the United States of America 116 (25), pp. 12390 - 12399 (2019)

MPG.PuRe

publisher-version

supplementary-material

Kraft, K.; Magg, A.; Heinrich, V.; Riemenschneider, C.; Schöpflin, R.; Markowski, J.; Ibrahim, D.; Acuna-Hidalgo, R.; Despang, A.; Andrey, G. et al.; Wittler, L.; Timmermann, B.; Vingron, M.; Mundlos, S.: Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology 21 (3), pp. 305 - 310 (2019)

MPG.PuRe

publisher-version

2018

Hernandez-Miranda, L. R.; Ibrahim, D.; Ruffault, P.-L.; Larrosa, M.; Balueva, K.; Müller, T.; Weerd, W. d.; Stolte-Dijkstra, I.; Hostra, R. M. W.; Brunet, J.-F. et al.; Fortin, G.; Mundlos, S.; Birchmeier, C.: Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. Proceedings of the National Academy of Sciences of the United States of America 115 (51), pp. 13021 - 13026 (2018)

MPG.PuRe

publisher-version

Luther, J.; Yorgan, T. A.; Rolvien, T.; Ulsamer, L.; Koehne, T.; Liao, N.; Keller, D.; Vollersen, N.; Teufel, S.; Neven, M. et al.; Peters, S.; Schweizer, M.; Trumpp, A.; Rosigkeit, S.; Bockamp, E.; Mundlos, S.; Kornak, U.; Oheim, R.; Amling, M.; Schinke, T.; David, J.-P.: Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science Translational Medicine 10 (466), eaau7137 (2018)

MPG.PuRe

publisher-version

Kragesteen, B.; Duboule, D.; Mundlos, S.; Spielmann, M.: Response to Peron et al. GENETICS IN MEDICINE 20, pp. 1481 - 1482 (2018)

MPG.PuRe

publisher-version

Rolvien, T.; Stürznickel, J.; Schmidt, F. N.; Butscheidt, S.; Schmidt, T.; Busse, B.; Mundlos, S.; Schinke, T.; Kornak, U.; Amling, M. et al.; Oheim, R.: Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International 103 (5), pp. 512 - 521 (2018)

MPG.PuRe

publisher-version

Holtgrewe, M.; Knaus, A.; Hildebrand, G.; Pantel, J.-T.; de los Santos, M. R.; Neveling, K.; Goldmann, J.; Schubach, M.; Jäger, M.; Coutelier, M. et al.; Mundlos, S.; Beule, D.; Sperling, K.; Krawitz, P. M.: Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports 8 (1), 14611 (2018)

MPG.PuRe

publisher-version

Kragesteen , B. K.; Spielmann, M.; Paliou, C.; Heinrich, V.; Schöpflin, R.; Esposito, A.; Annunziatella, C.; Bianco , S.; Chiariello, A. M.; Jerković , I. et al.; Harabula, I.; Guckelberger, P.; Pechstein, M.; Wittler, L.; Chan, W.-L.; Franke, M.; Lupiáñez , D. G.; Kraft, K.; Timmermann, B.; Vingron, M.; Visel, A.; Nicodemi, M.; Mundlos, S.; Andrey, G.: Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis. Nature Genetics 50 (10), pp. 1463 - 1473 (2018)

MPG.PuRe

Castori, M.; Ott, C.-E.; Bisceglia, L.; Leone, M. P.; Mazza, T.; Castellana, S.; Tomassi, J.; Lanciotti, S.; Mundlos, S.; Hennekam, R. C. et al.; Kornak, U.; Brancati, F.: A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American Journal of Medical Genetics Part A 176 (9), pp. 2028 - 2033 (2018)

MPG.PuRe

publisher-version

Khayal, A. L.; Grünhagen, J.; Provaznik, I.; Mundlos, S.; Kornak, U.; Robinson, P.; Ott, C.-E.: Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone 113, pp. 29 - 40 (2018)

MPG.PuRe

publisher-version

Butscheidt, S.; Delsmann, A.; Rolvien, T.; Barvencik, F.; Al-Bughaili, M.; Mundlos, S.; Schinke, T.; Amling, M.; Kornak, U.; Oheim, R.: Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2. Osteoporosis International 29 (7), pp. 1643 - 1651 (2018)

MPG.PuRe

publisher-version

Spielmann, M.; Lupiáñez, D. G.; Mundlos, S.: Structural variation in the 3D genome. Nature Reviews Genetics 19 (7), pp. 453 - 467 (2018)

MPG.PuRe

publisher-version

Flöttmann, R.; Kragesteen, B. K.; Geuer, S.; Socha, M.; Allou, L.; Sowińska-Seidler, A.; Bosquillon de Jarcy, L.; Wagner, J.; Jamsheer, A.; Oehl-Jaschkowitz, B. et al.; Wittler, L.; de Silva, D.; Kurth, I.; Maya, I.; Santos-Simarro, F.; Hülsemann, W.; Klopocki, E.; Mountford, R.; Fryer, A.; Borck, G.; Horn, D.; Lapunzina, P.; Wilson, M.; Mascrez, B.; Duboule, D.; Mundlos, S.; Spielmann, M.: Noncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE 20 (6), pp. 599 - 607 (2018)

MPG.PuRe

publisher-version

Bianco, S.; Lupiáñez, D. G.; Chiariello, A. M.; Annunziatella, C.; Kraft, K.; Schöpflin, R.; Wittler, L.; Andrey, G.; Vingron, M.; Pombo, A. et al.; Mundlos, S.; Nicodemi, M.: Polymer physics predicts the effects of structural variants on chromatin architecture. Nature Genetics 50 (5), pp. 662 - 667 (2018)

MPG.PuRe

publisher-version

Pantel, J. T.; Zhao, M.; Mensah, M.; Hajjir, N.; Hsieh, T.-C.; Hanani, Y.; Fleischer, N.; Kamphans, T.; Mundlos, S.; Gurovich, Y. et al.; M. Krawitz, P.: Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. Journal of Inherited Metabolic Disease 41 (3), pp. 533 - 539 (2018)

MPG.PuRe

publisher-version

Piard, J.; Lespinasse, J.; Vlckova, M.; Mensah, M.; Lurian, S.; Simandlova, M.; Malikova, M.; Bartsch, O.; Rossi, M.; Lenoir, M. et al.; Nugues, F.; Mundlos, S.; Kornak, U.; Stanier, P.; Sousa, S.; Van Maldergem, L.: Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1. American Journal of Medical Genetics Part A 176 (3), pp. 668 - 675 (2018)

MPG.PuRe

publisher-version

Knaus, A.; Pantel, J. T.; Pendziwiat, M.; Hajjir, N.; Zhao, M.; Hsieh, T.-C.; Schubach, M.; Gurovich, Y.; Fleischer, N.; Jäger, M. et al.; Köhler, S.; Muhle, H.; Korff, C.; Møller, R. S.; Bayat, A.; Calvas, P.; Chassaing, N.; Warren, H.; Skinner, S.; Louie, R.; Evers, C.; Bohn, M.; Christen, H.-J.; van den Born, M.; Obersztyn, E.; Charzewska, A.; Endziniene, M.; Kortüm, F.; Brown, N.; Robinson, P. N.; Schelhaas, H. J.; Weber, Y.; Helbig, I.; Mundlos, S.; Horn, D.; Krawitz, P. M.: Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine 10 (1), 10(1):3 (2018)

MPG.PuRe

publisher-version

Chan, W. L.; Steiner, M.; Witkos, T.; Egerer, J.; Busse, B.; Mizumoto, S.; Pestka, J. M.; Zhang, H.; Hausser, I.; Khayal, L. A. et al.; Ott, C.-E.; Kolanczyk, M.; Willie, B.; Schinke, T.; Paganini, C.; Rossi, A.; Sugahara, K.; Amling, M.; Knaus, P.; Chan, D.; Lowe, M.; Mundlos, S.; Kornak, U.: Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. PLoS Genetics 14 (3), e1007242 (2018)

MPG.PuRe

publisher-version

Geissler, S.; Textor, M.; Stumpp, S.; Seitz, S.; Lekaj, A.; Brunk, S.; Klaassen, S.; Schinke, T.; Klein, C.; Mundlos, S. et al.; Kornak, U.; Kühnisch, J.: Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation. PLoS One 13 (6), e0198510 (2018)

MPG.PuRe

publisher-version

Rauner, M.; Buttgereit, F.; Distler, J.; Garbe, A. I.; Herrmann, M.; Hofbauer, L.; Hoffmann, M.; Jessberger, R.; Kornak, U.; Krönke, G. et al.; Mundlos, S.; Spies, C.; Tuckermann, J.; Zwerina, J.: Osteoimmunologie – IMMUNOBONE: Regulation des Knochens durch Entzündung. Zeitschrift für Rheumatologie 77 (Suppl.1), pp. S12 - S15 (2018)

MPG.PuRe

publisher-version

Rolvien, T.; Kornak, U.; Stürznickel, J.; Schinke, T.; Amling, M.; Mundlos, S.; Oheim, R.: A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. Osteoporosis International 29 (1), pp. 243 - 246 (2018)

MPG.PuRe

publisher-version

2017

Ehmke, N.; Graul-Neumann, L.; Smorag, L.; Koenig, R.; Segebrecht, L.; Magoulas, P.; Scaglia, F.; Kilic, E.; Hennig, A. F.; Adolphs, N. et al.; Saha, N.; Fauler, B.; Kalscheuer, V. M.; Hennig, F.; Altmüller, J.; Netzer, C.; Thiele, H.; Nürnberg, P.; Yigit, G.; Jäger, M.; Hecht, J.; Krüger, U.; Mielke, T.; Krawitz, P. M.; Horn, D.; Schuelke, M.; Mundlos, S.; Bacino, C. A.; Bonnen, P. E.; Wollnik, B.; Fischer-Zirnsak, B.; Kornak, U.: De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 101 (5), pp. 833 - 843 (2017)

MPG.PuRe

publisher-version

Spielmann, M.; Hernandez-Miranda, L. R.; Ceccherini, I.; Weese-Mayer, D. E.; Kragesteen, B. K.; Harabula, I.; Krawitz, P.; Birchmeier, C.; Leonard, N.; Mundlos, S.: Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction. Journal of Medical Genetics 54 (11), pp. 754 - 761 (2017)

MPG.PuRe

publisher-version

Will , A. J.; Cova, G.; Osterwalder, M.; Chan, W. L.; Wittler, L.; Brieske, N.; Heinrich, V.; de Villartay, J. P.; Vingron, M.; Klopocki, E. et al.; Visel, A.; Lupianez, D. G.; Mundlos, S.: Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). Nature Genetics 49 (10), pp. 1539 - 1545 (2017)

MPG.PuRe

publisher-version

Andrey, G.; Schöpflin, R.; Jerković, I.; Heinrich, V.; Ibrahim, D.; Paliou, C.; Hochradel, M.; Timmermann, B.; Haas, S.; Vingron, M. et al.; Mundlos, S.: Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding. Genome Research 27 (2), pp. 223 - 233 (2017)

MPG.PuRe

publisher-version

Jerković, I.; Ibrahim, D.; Andrey, G.; Haas, S.; Hansen, P.; Janetzki, C.; Gonzalez Navarrete, I.; Robinson, P. N.; Hecht, J.; Mundlos, S.: Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. PLoS Genetics 13 (1), e1006567 (2017)

MPG.PuRe

publisher-version

2016

Franke, M.; Ibrahim, D.; Andrey, G.; Schwarzer, W.; Heinrich, V.; Schöpflin, R.; Kraft, K.; Kempfer, R.; Jerković, I.; Chan, W.-L. et al.; Spielmann, M.; Timmermann, B.; Wittler, L.; Kurth, I.; Cambiaso, P.; Zuffardi, O.; Houge, G.; Lambie, L.; Brancati, F.; Pombo, A.; Vingron, M.; Spitz, F.; Mundlos, S.: Formation of novel chromatin domains determines pathogenicity of genomic duplications. Nature 538 (7624), pp. 265 - 269 (2016)

MPG.PuRe

publisher-version

Spielmann, M.; Mundlos, S.: Looking beyond the genes: the role of non-coding variants in human disease. Human Molecular Genetics 25 (R2), pp. R157 - R165 (2016)

MPG.PuRe

publisher-version

Seifert, W.; Posor, Y.; Schu, P.; Stenbeck, G.; Mundlos, S.; Klaassen, S.; Nurnberg, P.; Haucke, V.; Kornak, U.; Kühnisch, J.: The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. Human Molecular Genetics 25 (17), pp. 3836 - 3848 (2016)

MPG.PuRe

publisher-version

Heinrich, V.; Kamphans, T.; Mundlos, S.; Robinson, P. N.; Krawitz, P. M.: A likelihood ratio based method to predict exact pedigrees for complex families from next-generation sequencing data. Bioinformatics 2016, btw550 (2016)

MPG.PuRe

publisher-version

Flöttmann, R.; Sowinska-Seidler, A.; Lavie, J.; Chateil, J. F.; Lacombe, D.; Mundlos, S.; Horn, D.; Spielmann, M.: Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European journal of human genetics 24 (8), pp. 1132 - 1136 (2016)

MPG.PuRe

publisher-version

Knaus, A.; Awaya, T.; Helbig, I.; Afawi, Z.; Pendziwiat, M.; Abu-Rachma, J.; Thompson, M. D.; Cole, D. E.; Skinner, S.; Annese, F. et al.; Canham, N.; Schweiger, M. R.; Robinson, P. N.; Mundlos, S.; Kinoshita, T.; Munnich, A.; Murakami, Y.; Horn, D.; Krawitz, P. M.: Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Human Mutations 37 (8), pp. 737 - 744 (2016)

MPG.PuRe

publisher-version

Spielmann, M.; Marx, S.; Barbi, G.; Flottmann, R.; Kehrer-Sawatzki, H.; Konig, R.; Horn, D.; Mundlos, S.; Nader, S.; Borck, G.: Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. American Journal of Medical Genetics Part A 170A (5), pp. 1202 - 1207 (2016)

MPG.PuRe

publisher-version

Lupiáñez, D. G.; Spielmann, M.; Mundlos, S.: Breaking TADs: How Alterations of Chromatin Domains Result in Disease. Trends in Genetics 32 (4), pp. 225 - 237 (2016)

MPG.PuRe

publisher-version

Mackenroth, L.; Fischer-Zirnsak, B.; Egerer, J.; Hecht, J.; Kallinich, T.; Stenzel, W.; Spors, B.; von Moers, A.; Mundlos, S.; Kornak, U. et al.; Gerhold, K.; Horn, D.: An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. American Journal of Medical Genetics Part A 170A (4), pp. 1080 - 1085 (2016)

MPG.PuRe

publisher-version

Ibrahim, D.; Tayebi, N.; Knaus, A.; Stiege, A. C.; Sahebzamani, A.; Hecht, J.; Mundlos, S.; Spielmann, M.: A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. American Journal of Medical Genetics Part A 170 (3), pp. 615 - 621 (2016)

MPG.PuRe

Olech, E. M.; Zemojtel, T.; Sowinska-Seidler, A.; Mundlos, S.; Robinson, P. N.; Karczewski, M.; Jamsheer, A.: Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. Polish Journal of Pathology 67 (1), pp. 78 - 83 (2016)

MPG.PuRe

publisher-version

Spielmann, M.; Kakar, N.; Tayebi, N.; Leettola, C.; Nürnberg, G.; Sowada, N.; Lupiáñez, D. G.; Harabula, I.; Flöttmann, R.; Horn, D. et al.; Chan, W. L.; Wittler, L.; Yilmaz, R.; Altmüller, J.; Thiele, H.; van Bokhoven,, H.; Schwartz, C. E.; Nürnberg, P.; Bowie, J. U.; Ahmad, J.; Kubisch, C.; Mundlos, S.: Exome Sequencing and CRISPR/Cas Genome Editing Identify Mutations of ZAK as a Cause of Limb Defects in Humans and Mice. Genome Research 26 (2), pp. 183 - 191 (2016)

MPG.PuRe

publisher-version

2015

Egerer, J.; Emmerich, D.; Fischer-Zirnsak, B.; Chan, W. L.; Meierhofer, D.; Tuysuz, B.; Marschner, K.; Sauer, S.; Barr, F. A.; Mundlos, S. et al.; Kornak, U.: GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 135 (10), pp. 2368 - 2376 (2015)

MPG.PuRe

Fischer-Zirnsak, B.; Escande-Beillard, N.; Ganesh, J.; Tan, Y. X.; Bughaili, M. A.; Lin, A. E.; Sahai, I.; Bahena, P.; Reichert, S. L.; Loh, A. et al.; Wright, G. D.; Liu, J.; Rahikkala, E.; Pivnick, E. K.; Choudhri, A. F.; Krüger, U.; Zemojtel, T.; van Ravenswaaij-Arts, C.; Mostafavi, R.; Stolte-Dijkstra, I.; Symoens, S.; Pajunen, L.; Al-Gazali, L.; Meierhofer, D.; Robinson, P. N.; Mundlos, S.; Villarroel, C. E.: Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. The American Journal of Human Genetics 97 (3), pp. 483 - 492 (2015)

MPG.PuRe

publisher-version

Flöttmann, R.; Knaus, A.; Zemojtel, T.; Robinson, P. N.; Mundlos, S.; Horn, D.; Spielmann, M.: FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics 58 (8), pp. 376 - 380 (2015)

MPG.PuRe

publisher-version

Lelieveld, S. H.; Spielmann, M.; Mundlos, S.; Veltman, J. A.; Gilissen, C.: Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutations 36 (8), pp. 815 - 822 (2015)

MPG.PuRe

publisher-version

Stange, K.; Ott, C. E.; Schmidt-von Kegler, M.; Gillesen-Kaesbach, G.; Mundlos, S.; Dathe, K.; Seemann, P.: Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? JOURNAL OF HUMAN GENETICS 60 (8), pp. 419 - 425 (2015)

MPG.PuRe

publisher-version

Flöttmann, R.; Wagner, J.; Kobus, K.; Curry, C. J.; Savarirayan, R.; Nishimura, G.; Yasui, N.; Spranger, J.; Van Esch, H.; Lyons, M. J. et al.; DuPont, B. R.; Dwivedi, A.; Klopocki, E.; Horn, D.; Mundlos, S.; Spielmann, M.: Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics 52 (7), pp. 476 - 483 (2015)

MPG.PuRe

publisher-version

Emmerich, D.; Zemojtel, T.; Hecht, J.; Krawitz, P.; Spielmann, M.; Kühnisch, J.; Kobus, K.; Oßwald, M.; Heinrich, V.; Berlien, P. et al.; Müller, U.; Mautner, V.-F.; Wimmer, K.; Robinson, P. N.; Vingron, M.; Tinschert, S.; Mundlos, S.; Kolanczyk, M.: Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics 23 (6), pp. 1870 - 1873 (2015)

MPG.PuRe

publisher-version

Maass, P. G.; Aydin, A.; Luft, F. C.; Schachterle, C.; Weise, A.; Stricker, S.; Lindschau, C.; Vaegler, M.; Qadri, F.; Toka, H. R. et al.; Schulz, H.; Krawitz, P. M.; Parkhomchuk, D.; Hecht, J.; Hollfinger, I.; Wefeld-Neuenfeld, Y.; Bartels-Klein, E.; Muhl, A.; Kann, M.; Schuster, H.; Chitayat, D.; Bialer, M. G.; Wienker, T. F.; Ott, J.; Rittscher, K.; Liehr, T.; Jordan, J.; Plessis, G.; Tank, J.; Mai, K.; Naraghi, R.; Hodge, R.; Hopp, M.; Hattenbach, L. O.; Busjahn, A.; Rauch, A.; Vandeput, F.; Gong, M.; Ruschendorf, F.; Hübner, N.; Haller, H.; Mundlos, S.; Bilginturan, N.; Movsesian, M. A.; Klussmann, E.; Toka, O.; Bahring, S.: PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics 47 (6), pp. 647 - 653 (2015)

MPG.PuRe

publisher-version

Sukalo, M.; Tilsen, F.; Kayserili, H.; Muller, D.; Tuysuz, B.; Ruddy, D. M.; Wakeling, E.; Orstavik, K. H.; Snape, K. M.; Trembath, R. et al.; De Smedt, M.; van der Aa, N.; Skalej, M.; Mundlos, S.; Wuyts, W.; Southgate, L.; Zenker, M.: DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Human Mutations 36 (6), pp. 593 - 598 (2015)

MPG.PuRe

publisher-version

Lupiáñez, D. G.; Kraft, K.; Heinrich, V.; Krawitz, P.; Brancati, F.; Klopocki, E.; Horn, D.; Kayserili, H.; Opitz, J. M.; Laxova, R. et al.; Santos-Simarro, F.; Gilbert-Dussardier, B.; Wittler, L.; Borschiwer, M.; Haas, S. A.; Osterwalder, M.; Franke, M.; Timmermann, B.; Hecht, J.; Spielmann, M.; Visel, A.; Mundlos, S.: Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell 161 (5), pp. 1012 - 1025 (2015)

MPG.PuRe

publisher-version

Degenkolbe, E.; Schwarz, C.; Ott, C. E.; Konig, J.; Schmidt-Bleek, K.; Ellinghaus, A.; Schmidt, T.; Lienau, J.; Ploger, F.; Mundlos, S. et al.; Duda, G. N.; Willie, B. M.; Seemann, P.: Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. Bone 73, pp. 111 - 119 (2015)

MPG.PuRe

publisher-version

Kobus, K.; Hartl, D.; Ott, C. E.; Osswald, M.; Huebner, A.; von der Hagen, M.; Emmerich, D.; Kühnisch, J.; Morreau, H.; Hes, F. J. et al.; Mautner, V. F.; Harder, A.; Tinschert, S.; Mundlos, S.; Kolanczyk, M.: Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient. PLoS One 10 (3), e0119030 (2015)

MPG.PuRe

publisher-version