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

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

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

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