Researcher Portfolio

Schöpflin, Robert

Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society

Researcher Profile

Position: Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society

Position: Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society

Researcher ID: https://pure.mpg.de/cone/persons/resource/persons194839

External references

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Publications

(1 - 25 of 28)

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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., Paliou, C., Laupert, V., Chan, W.-L., Wittler, L., Mielke, T., & Mundlos, S. (2024). Enhancer adoption by an LTR retrotransposon generates viral-like particles causing developmental limb phenotypes. bioRxiv. doi:10.1101/2024.09.13.612906. [PubMan] : Klever, M.-K., Sträng, E., Hetzel, S., Jungnitsch, J., Dolnik, A., Schöpflin, R., Schrezenmeier, J.-F., Schick, F., Blau, O., Westermann, J., Rücker, F. G.., Xia, Z., Döhner, K., Schrezenmeier, H., Spielmann, M., Meissner, A., Melo, U. S., Mundlos, S., & Bullinger, L. (2023). AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology. Blood Advances, 7(21), 6520-6531. doi:10.1182/bloodadvances.2023010887. [PubMan] : Stefanova, M. E., Ing-Simmons, E., Stefanov, S., Flyamer, I., Garcia, H. D., Schöpflin, R., Henssen, A. G., Vaquerizas, J. M., & Mundlos, S. (2023). Doxorubicin Changes the Spatial Organization of the Genome around Active Promoters. Cells, 12(15): 2001. doi:10.3390/cells12152001. [PubMan] : Melo, U. S., Jatzlau, J., Prada-Medina, C. A., Flex, E., Hartmann, S., Ali, S., Schöpflin, R., Bernardini, L., Ciolfi, A., Moeinzadeh, H., 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. (2023). Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature Communications, 14(1): 2034. doi:10.1038/s41467-023-37585-8. [PubMan] : Cova, G., Glaser, J., Schöpflin, R., Ali, S., Prada-Medina, C. A., Franke, M., Falcone, R., Federer, M., Ponzi, E., Ficarella, R., Novara, F., Wittler, L., Timmermann, B., Gentile, M., Zuffardi, O., Spielmann, M., & Mundlos, S. (2023). Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3. Nature Communications, 14: 1475. doi:10.1038/s41467-023-37057-z. [PubMan] : Schöpflin, R., Melo, U. S., Moeinzadeh, M. H., Heller, D., Laupert, V., Hertzberg, J., Holtgrewe, M., Alavi, N., Klever, M.-K., Jungnitsch, J., 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. (2022). Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature Communications, 13(1): 6470. doi:10.1038/s41467-022-34053-7. [PubMan] : Ringel, A., Szabo, Q., Chiariello, A. M., Chudzik, K., Schöpflin, R., Rothe, P., Mattei, A. L., Zehnder, T., Harnett, D., Laupert, V., 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. (2022). Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes. Cell, 185(20), 3689-3704. doi:10.1016/j.cell.2022.09.006. [PubMan] : Gjaltema, R. A. F., Schwämmle, T., Kautz, P., Robson, M., Schöpflin, R., Ravid Lustig, L., Brandenburg, L., Dunkel, I., Vechiatto, C., Ntini, E., Mutzel, V., Schmiedel, V., Marsico, A., Mundlos, S., & Schulz, E. G. (2022). Distal and proximal cis-regulatory elements sense X-chromosomal dosage and developmental state at the Xist locus. Molecular Cell, 82(1), 190-208. doi:10.1016/j.molcel.2021.11.023. [PubMan] : Ringel, A., Szabo, Q., Chiariello, A. M., Chudzik, K., Schöpflin, R., Rothe, P., Mattei, A. L., Zehnder, T., Harnett, D., Laupert, V., Bianco, S., Hetzel, S., Phan, M., Schindler, M., Ibrahim, D. M., Paliou, C., Esposito, A., Prada-Medina, C. A., Haas, S., Giere, P., Vingron, M., Wittler, L., Meissner, A., Nicodemi, M., Cavalli, G., Bantignies, F., Mundlos, S., & Robson, M. (2021). Promoter repression and 3D-restructuring resolves divergent developmental gene expression in TADs. bioRxiv. doi:10.1101/2021.10.08.463672. [PubMan] : 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., Gaillard, D., Landais, E., Roze, V., Kremer, V., Ramanah, R., Cabrol, C., Harms, F. L., Kornak, U., Spielmann, M., Mundlos, S., & Van Maldergem, L. (2021). Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics, 140(10), 1459-1469. doi:10.1007/s00439-021-02344-6. [PubMan] : 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., 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. (2021). Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature, 592(7852), 93-98. doi:10.1038/s41586-021-03208-9. [PubMan] : Helmsauer, K., Valieva, M., Ali, S., Chamorro González, R., Schöpflin, R., Röefzaad, C., Bei, Y., Dorado Garcia, H., Rodriguez-Fos, E., Puiggròs, M., 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. (2020). Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications, 11(1): 5823. doi:10.1038/s41467-020-19452-y. [PubMan] : Klever, M.-K., Sträng, E., Jungnitsch, J., Melo, U. S., Hetzel, S., Dolnik, A., Schöpflin, R., Schrezenmeier, J. F., Blau, O., Westermann, J., Döhner, K., Schrezenmeier, H., Spielmann, M., Meissner, A., Mundlos, S., & Bullinger, L. (2020). Integration of Hi-C and Nanopore Sequencing for Structural Variant Analysis in AML with a Complex Karyotype: (Chromothripsis)². Blood, 136: S28. doi:10.1182/blood-2020-133787. [PubMan] : Real, F. M., Haas, S. A., Franchini, P., Xiong, P., Simakov, O., Kuhl, H., Schöpflin, R., Heller, D., Moeinzadeh, M. H., Heinrich, V., 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. (2020). The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science, 370(6513), 208-214. doi:10.1126/science.aaz2582. [PubMan] : 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., 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. (2020). Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics, 106(6), 872-884. doi:10.1016/j.ajhg.2020.04.016. [PubMan] : Ramisch, A., Heinrich, V., Glaser, L. V., Fuchs, A., Yang, X., Benner, P., Schöpflin, R., Li, N., Kinkley, S., Römer-Hillmann, A., Longinotto, J., Heyne, S., Czepukojc, B., Kessler, S. M., Kiemer, A. K., Cadenas, C., Arrigoni, L., Gasparoni, N., Manke, T., Pap, T., Pospisilik, A., Hengstler, J., Walter, J., Meijsing, S., Chung, H.-R., & Vingron, M. (2019). CRUP: a comprehensive framework to predict condition-specific regulatory units. Genome Biology: Biology for the Post-Genomic Era, 20(1): 227. doi:10.1186/s13059-019-1860-7. [PubMan] : Despang, A., Schöpflin, R., Franke, M., Ali, S., Jerković, I., Paliou, C., Chan, W.-L., Timmermann, B., Wittler, L., Vingron, M., Mundlos, S., & Ibrahim, D. M. (2019). Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature Genetics, 51(8), 1263-1271. doi:10.1038/s41588-019-0466-z. [PubMan] : Paliou, C., Guckelberger, P., Schöpflin, R., Heinrich, V., Esposito, A., Chiariello, A. M., Bianco, S., Annunziatella, C., Helmuth, J., Haas, S., Jerković, I., Brieske, N., Wittler, L., Timmermann, B., Nicodemi, M., Vingron, M., Mundlos, S., & Andrey, G. (2019). 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), 12390-12399. doi:10.1073/pnas.1900672116. [PubMan] : Despang, A., Schöpflin, R., Franke, M., Ali, S., Jerkovic, I., Paliou, C., Chan, W.-L., Timmermann, B., Wittler, L., Vingron, M., Mundlos, S., & Ibrahim, D. M. (2019). Functional dissection of TADs reveals non-essential and instructive roles in regulating gene expression. bioRxiv. doi:10.1101/566562. [PubMan] : Kraft, K., Magg, A., Heinrich, V., Riemenschneider, C., Schöpflin, R., Markowski, J., Ibrahim, D., Acuna-Hidalgo, R., Despang, A., Andrey, G., Wittler, L., Timmermann, B., Vingron, M., & Mundlos, S. (2019). Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology, 21(3), 305-310. doi:10.1038/s41556-019-0273-x. [PubMan] : Kragesteen, B. K., Spielmann, M., Paliou, C., Heinrich, V., Schöpflin, R., Esposito, A., Annunziatella, C., Bianco, S., Chiariello, A. M., Jerković, I., 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. (2018). Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics, 50(10), 1463-1473. doi:10.1038/s41588-018-0221-x. [PubMan] : Bianco, S., Lupiáñez, D. G., Chiariello, A. M., Annunziatella, C., Kraft, K., Schöpflin, R., Wittler, L., Andrey, G., Vingron, M., Pombo, A., Mundlos, S., & Nicodemi, M. (2018). Polymer physics predicts the effects of structural variants on chromatin architecture. Nature Genetics, 50(5), 662-667. doi:10.1038/s41588-018-0098-8. [PubMan] : Thormann, V., Rothkegel, M. C., Schöpflin, R., Glaser, L. V., Djuric, P., Li, N., Chung, H.-R., Schwahn, K., Vingron, M., & Meijsing, S. (2018). Genomic dissection of enhancers uncovers principles of combinatorial regulation and dynamic wiring of enhancer-promoter contacts. Nucleic Acids Research (London), 46(6), 2868-2882. doi:10.1093/nar/gky051. [PubMan] : Love, M. I., Huska, M., Jurk, M., Schöpflin, R., Starick, S. R., Schwahn, K., Cooper, S. B., Yamamoto, K. R., Thomas-Chollier, M., Vingron, M., & Meijsing, S. H. (2017). Role of the chromatin landscape and sequence in determining cell type-specific genomic glucocorticoid receptor binding and gene regulation. Nucleic Acids Research (London), 45(4), 1805-1819. doi:10.1093/nar/gkw1163. [PubMan] : Andrey, G., Schöpflin, R., Jerković, I., Heinrich, V., Ibrahim, D., Paliou, C., Hochradel, M., Timmermann, B., Haas, S., Vingron, M., & Mundlos, S. (2017). Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding. Genome Research, 27(2), 223-233. doi:10.1101/gr.213066.116. [PubMan]