Prof. Dr. med. Malte Spielmann

M. Mensah, H. Niskanen, A. Magalhaes, S. Basu, M. Kircher, H. Sczakiel, A. Reiter, J. Elsner, P. Meinecke, S. Biskup, B. Chung, G. Dombrowsky, C. Eckmann-Scholz, M. Hitz, A. Hoischen, P. Holterhus, W. Hulsemann, K. Kahrizi, V. Kalscheuer, A. Kan, M. Krumbiegel, I. Kurth, J. Leubner, A. Longardt, J. Moritz, H. Najmabadi, K. Skipalova, L. Snijders Blok, A. Tzschach, E. Wiedersberg, M. Zenker, C. Garcia-Cabau, R. Buschow, X. Salvatella, M. Kraushar, S. Mundlos, A. Caliebe, M. Spielmann, D. Horn, and D. Hnisz,
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases, Nature , vol. 614, no. 7948, pp. 564-571, 2023.

DOI:	10.1038/s41586-022-05682-1

S. Smajic, C. Prada-Medina, Z. Landoulsi, J. Ghelfi, S. Delcambre, C. Dietrich, J. Jarazo, J. Henck, S. Balachandran, S. Pachchek, C. Morris, P. Antony, B. Timmermann, S. Sauer, S. Pereira, J. Schwamborn, P. May, A. Grunewald, and M. Spielmann,
Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state, Brain , vol. 145, no. 3, pp. 964-978, 2022.

DOI:	10.1093/brain/awab446

C. Qiu, J. Cao, B. Martin, T. Li, I. Welsh, S. Srivatsan, X. Huang, D. Calderon, W. Noble, C. Disteche, S. Murray, M. Spielmann, C. Moens, C. Trapnell, and J. Shendure,
Systematic reconstruction of cellular trajectories across mouse embryogenesis, Nat Genet , vol. 54, no. 3, pp. 328-341, 2022.

DOI:	10.1038/s41588-022-01018-x

M. Socha, A. Sowinska-Seidler, U. Melo, B. Kragesteen, M. Franke, V. Heinrich, R. Schopflin, I. Nagel, N. Gruchy, S. Mundlos, V. Sreenivasan, C. Lopez, M. Vingron, E. Bukowska-Olech, M. Spielmann, and A. Jamsheer,
Position effects at the FGF8 locus are associated with femoral hypoplasia, Am J Hum Genet , vol. 108, no. 9, pp. 1725-1734, 2021.

DOI:	10.1016/j.ajhg.2021.08.001

J. Cao, D. O'Day, H. Pliner, P. Kingsley, M. Deng, R. Daza, M. Zager, K. Aldinger, R. Blecher-Gonen, F. Zhang, M. Spielmann, J. Palis, D. Doherty, F. Steemers, I. Glass, C. Trapnell, and J. Shendure,
A human cell atlas of fetal gene expression, Science , vol. 370, no. 6518, 2020.

DOI:	10.1126/science.aba7721

U. Melo, R. Schopflin, R. Acuna-Hidalgo, M. Mensah, B. Fischer-Zirnsak, M. Holtgrewe, M. Klever, S. Turkmen, V. Heinrich, I. Pluym, E. Matoso, S. Sousa, P. Louro, W. Hulsemann, M. Cohen, A. Dufke, A. Latos-Bielenska, M. Vingron, V. Kalscheuer, F. Quintero-Rivera, M. Spielmann, and S. Mundlos,
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases, Am J Hum Genet , vol. 106, no. 6, pp. 872-884, 2020.

DOI:	10.1016/j.ajhg.2020.04.016

J. Cao, M. Spielmann, X. Qiu, X. Huang, D. Ibrahim, A. Hill, F. Zhang, S. Mundlos, L. Christiansen, F. Steemers, C. Trapnell, and J. Shendure,
The single-cell transcriptional landscape of mammalian organogenesis, Nature , vol. 566, no. 7745, pp. 496-502, 2019.

DOI:	10.1038/s41586-019-0969-x

B. Kragesteen, M. Spielmann, C. Paliou, V. Heinrich, R. Schöpflin, A. Esposito, C. Annunziatella, S. Bianco, A. Chiariello, I. Jerković, I. Harabula, P. Guckelberger, M. Pechstein, L. Wittler, W. Chan, M. Franke, D. Lupiáñez, K. Kraft, B. Timmermann, M. Vingron, A. Visel, M. Nicodemi, S. Mundlos, and G. Andrey,
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis, Nature Genetics , vol. 50, no. 10, pp. 1463-1473, 2018.

DOI:	10.1038/s41588-018-0221-x

M. Spielmann, D. Lupianez, and S. Mundlos,
Structural variation in the 3D genome, Nat Rev Genet , vol. 19, no. 7, pp. 453-467, 2018.

DOI:	10.1038/s41576-018-0007-0

M. Spielmann, F. Brancati, P. Krawitz, P. Robinson, D. Ibrahim, M. Franke, J. Hecht, S. Lohan, K. Dathe, A. Nardone, P. Ferrari, A. Landi, L. Wittler, B. Timmermann, D. Chan, U. Mennen, E. Klopocki, and S. Mundlos,
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus, Am J Hum Genet , vol. 91, no. 4, pp. 629-35, 2012.

DOI:	10.1016/j.ajhg.2012.08.014