Selected Publications

Varun K. A. Sreenivasan, Verónica Yumiceba, and Malte Spielmann, "Structural variants in the 3D genome as drivers of disease", in Nature Reviews Genetics, (Nature Pub. Group, London, UK, 2025).

Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhães, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, Alisa M. V. Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian H. Y. Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc Phillip Hitz, Alexander Hoischen, Paul-Martin Holterhus, Wiebke Hülsemann, Kimia Kahrizi, Vera M. Kalscheuer, Anita Kan, Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Jörg D. Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia-Cabau, Rene Buschow, Xavier Salvatella, Matthew L. Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, and Denes Hnisz, "Aberrant phase separation and nucleolar dysfunction in rare genetic diseases," Nature 614 (7948), 564-571 (2023).

Saranya Balachandran, Cesar A. Prada-Medina, Martin A. et al Mensah, and Malte Spielmann, "STIGMA: Single-cell tissue-specific gene prioritization using machine learning," The American Journal of Human Genetics 111 (2), 338-349 (2024).

Uirá Souto Melo, Jerome Jatzlau, César A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, and Malte Spielmann, "Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation," Nature Communications 14 (1), 2034 (2023).

S. Smajić, C. A. Prada-Medina, Z. Landoulsi​, C. Dietrich, J. Jarazo, J. Henck, S. Balachandran, S. Pachchek, C. M. Morris, P. Antony, B. Timmermann, S. Sauer, J. C. Schwamborn, P. May, A. Grünewald, and M. Spielmann, "Single-cell sequencing of the human midbrain reveals glial activation and a neuronal state specific to Parkinson’s disease", in medRxiv, (2020).

Bjørt K. Kragesteen , Malte Spielmann, Christina Paliou, Verena Heinrich, Robert Schöpflin, Andrea Esposito, Carlo Annunziatella, Simona Bianco , Andrea M. Chiariello, Ivana Jerković , Izabela Harabula, Philine Guckelberger, Michael Pechstein, Lars Wittler, Wing-Lee Chan, Martin Franke, Darío G. Lupiáñez , Katerina Kraft, Bernd Timmermann, Martin Vingron, Axel Visel, Mario Nicodemi, Stefan Mundlos, and Guillaume Andrey, "Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis," Nature Genetics 50 (10), 1463-1473 (2018).

Malte Spielmann, Darío G. Lupiáñez, and Stefan Mundlos, "Structural variation in the 3D genome," Nature Reviews Genetics 19 (7), 453-467 (2018).

Darío G. Lupiáñez, Katerina Kraft, Verena Heinrich, Peter Krawitz, Francesco Brancati, Eva Klopocki, Denise Horn, Hülya Kayserili, John M. Opitz, Renata Laxova, Fernando Santos-Simarro, Brigitte Gilbert-Dussardier, Lars Wittler, Marina Borschiwer, Stefan A. Haas, Marco Osterwalder, Martin Franke, Bernd Timmermann, Jochen Hecht, Malte Spielmann, Axel Visel, and Stefan Mundlos, "Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions," Cell 161 (5), 1012-1025 (2015).