Beyond the exome

DFG funded Research Group

People of Beyond the exome

Prof. Dr. med. Stefan Mundlos

Testbeschreibung Institute for Medical and Human Genetics
Charité-Universitätsmedizin Berlin
Augustenburger Platz 1
D-13353 Berlin, Germany

Phone: +49 (0)30 4505 569121
FAX: +49 (0)30 4505 569915

Stefan Mundlos, MD, is currently Professor and Chairman of the Institute for Medical and Human Genetics at the Charité, Berlin’s Medical School, and head of the research group Development & Disease at the Max Planck Institute for Molecular Genetics in Berlin. He received his MD in 1985 and his Dr. med. in 1987. After a training period in Pediatrics at the University Hospital of Mainz, Germany, he moved to Melbourne to work in the Murdoch Institute for Research into Birth Defects, followed by a research period at the Harvard Medical School in the Dept. of Cell Biology. In 1996 he moved back to the University of Mainz and became appointed Professor at the Institute for Human Genetics in Heidelberg in 1999. In 2000 he moved to Berlin to his present position. His lifelong interest is in genotype-phenotype correlations and the molecular basis of Mendelian disorders with a particular focus on congenital malformations and skeletal disease. He discovered numerous disease genes and has a special interest in understanding the developmental biology of mutations. He was awarded the Adalbert-Czerny Award (1997), Pierre Maroteaux award (2009), received the European Society of Human Genetics Award in 2016, was elected to the Deutsche Akademie für Naturforscher ‚Leopoldina’ in 2006 and to the Berlin-Brandenburger Akademie der Wissenschaften 2014, and is elected EMBO member since 2017. His current interests and research projects are focused on the function of non-coding DNA in gene regulation and disease, the functional in vivo analysis of structural variations, as well as the development of tools for the diagnostics of genetic disorders.

Publications (selection)

Kragesteen BK*, Spielmann M*, Paliou C, Heinrich V, Schöpflin R, Esposito A, Annunziatella C, Bianco S, Chiariello AM, Jerković I, Harabula I, Guckelberger P, Pechstein M, Wittler L, Chan WL, Franke M, Lupiáñez DG, 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. Nat Genet 2018;50:1463-1473. | *equal contribution

Spielmann M, Lupiáñez DG, Mundlos S. Structural variation in the 3D genome. Nat Rev Genet 2018;19:453-467.

Bianco S*, Lupiáñez DG*, Chiariello AM, Annunziatella C, Kraft K, Schöpflin R, Wittler L, Andrey G, Vingron M, Pombo A, Mundlos S*, Nicodemi M*. Polymer physics predicts the effects of structural variants on chromatin architecture. Nat Genet 2018;50:662-667. | *equal contribution

Will AJ, Cova G, Osterwalder M, Chan WL, Wittler L, Brieske N, Heinrich V, de Villartay JP, Vingron M, Klopocki E, Visel A, Lupiáñez DG*, Mundlos S*. Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). Nat Genet 2017;49:1539-1545. | *equal contribution

Franke M*, Ibrahim DM*, Andrey G, Schwarzer W, Heinrich V, Schöpflin R, Kraft K, Kempfer R, Jerković I, Chan WL, 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 new chromatin domains determines pathogenicity of genomic duplications. Nature 2016;538(7624):265-269. | *equal contribution

Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz JM, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, 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 2015;161:1012-1025.