Publikationen von Malte Spielmann

Bjørt Kragesteen, Denis Duboule, Stefan Mundlos, and Malte Spielmann, "Response to Peron et al," GENETICS IN MEDICINE 20, 1481-1482 (2018).

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 determines enhancer specificity and morphogenetic identity in limb development," 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).

Ricarda Flöttmann, Bjørt K. Kragesteen, Sinje Geuer, Magdalena Socha, Lila Allou, Anna Sowińska-Seidler, Laure Bosquillon de Jarcy, Johannes Wagner, Aleksander Jamsheer, Barbara Oehl-Jaschkowitz, Lars Wittler, Deepthi de Silva, Ingo Kurth, Idit Maya, Fernando Santos-Simarro, Wiebke Hülsemann, Eva Klopocki, Roger Mountford, Alan Fryer, Guntram Borck, Denise Horn, Pablo Lapunzina, Meredith Wilson, Bénédicte Mascrez, Denis Duboule, Stefan Mundlos, and Malte Spielmann, "Noncoding copy-number variations are associated with congenital limb malformation," GENETICS IN MEDICINE 20 (6), 599-607 (2018).

Malte Spielmann, Luis R. Hernandez-Miranda, Isabella Ceccherini, Debra E. Weese-Mayer, Bjørt K. Kragesteen, Izabela Harabula, Peter Krawitz, Carmen Birchmeier, Norma Leonard, and Stefan Mundlos, "Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction," Journal of Medical Genetics 54 (11), 754-761 (2017).

Martin Franke, Daniel Ibrahim, Guillaume Andrey, Wibke Schwarzer, Verena Heinrich, Robert Schöpflin, Katerina Kraft, Rieke Kempfer, Ivana Jerković, Wing-Lee Chan, Malte Spielmann, Bernd Timmermann, Lars Wittler, Ingo Kurth, Paola Cambiaso, Orsetta Zuffardi, Gunnar Houge, Lindsay Lambie, Francesco Brancati, Ana Pombo, Martin Vingron, Francois Spitz, and Stefan Mundlos, "Formation of novel chromatin domains determines pathogenicity of genomic duplications," Nature 538 (7624), 265-269 (2016).

M. Spielmann and S. Mundlos, "Looking beyond the genes: the role of non-coding variants in human disease," Human Molecular Genetics 25 (R2), R157-R165 (2016).

R. Flöttmann, A. Sowinska-Seidler, J. Lavie, J. F. Chateil, D. Lacombe, S. Mundlos, D. Horn, and M. Spielmann, "Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia," European journal of human genetics 24 (8), 1132-1136 (2016).

M. Spielmann, S. Marx, G. Barbi, R. Flottmann, H. Kehrer-Sawatzki, R. Konig, D. Horn, S. Mundlos, S. Nader, and G. Borck, "Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement," American Journal of Medical Genetics Part A 170A (5), 1202-1207 (2016).

D. G. Lupiáñez, M. Spielmann, and S. Mundlos, "Breaking TADs: How Alterations of Chromatin Domains Result in Disease," Trends in Genetics 32 (4), 225-237 (2016).

Daniel Ibrahim, Naeimeh Tayebi, Alexej Knaus, Asita Carola Stiege, Afsaneh Sahebzamani, Jochen Hecht, Stefan Mundlos, and Malte Spielmann, "A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.," American Journal of Medical Genetics Part A 170 (3), 615-621 (2016).

Malte Spielmann, Naseebullah Kakar, Naeimeh Tayebi, Catherine Leettola, Gudrun Nürnberg, Nadine Sowada, Darío G. Lupiáñez, Izabela Harabula, Ricarda Flöttmann, Denise Horn, Wing Lee Chan, Lars Wittler, Rüstem Yilmaz, Janine Altmüller, Holger Thiele, Hans van Bokhoven,, Charles E. Schwartz, Peter Nürnberg, James U. Bowie, Jamil Ahmad, Christian Kubisch, and Stefan Mundlos, "Exome Sequencing and CRISPR/Cas Genome Editing Identify Mutations of ZAK as a Cause of Limb Defects in Humans and Mice.," Genome Research 26 (2), 183-191 (2016).

R. Flöttmann, A. Knaus, T. Zemojtel, P. N. Robinson, S. Mundlos, D. Horn, and M. Spielmann, "FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies," European Journal of Medical Genetics 58 (8), 376-380 (2015).

S. H. Lelieveld, M. Spielmann, S. Mundlos, J. A. Veltman, and C. Gilissen, "Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions," Human Mutations 36 (8), 815-822 (2015).

R. Flöttmann, J. Wagner, K. Kobus, C. J. Curry, R. Savarirayan, G. Nishimura, N. Yasui, J. Spranger, H. Van Esch, M. J. Lyons, B. R. DuPont, A. Dwivedi, E. Klopocki, D. Horn, Stefan Mundlos, and M. Spielmann, "Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type," Journal of Medical Genetics 52 (7), 476-483 (2015).

Denise Emmerich, Tomasz Zemojtel, Jochen Hecht, Peter Krawitz, Malte Spielmann, Jirko Kühnisch, Karolina Kobus, Monika Oßwald, Verena Heinrich, Peter Berlien, Ute Müller, Victor-F. Mautner, Katharina Wimmer, Peter N. Robinson, Martin Vingron, Sigrid Tinschert, Stefan Mundlos, and Mateusz Kolanczyk, "Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient," European journal of human genetics 23 (6), 1870-1873 (2015).

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).

K. Kraft, S. Geuer, A. J. Will, W. L. Chan, C. Paliou, M. Borschiwer, I. Harabula, L. Wittler, M. Franke, D. Ibrahim, B. K. Kragesteen, M. Spielmann, S. Mundlos, D. G. Lupianez, and G. Andrey, "Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice," Cell Reports 10 (5), 833-839 (2015).

N. Ehmke, A. Caliebe, R. Koenig, S. G. Kant, Z. Stark, V. Cormier-Daire, D. Wieczorek, G. Gillessen-Kaesbach, K. Hoff, A. Kawalia, H. Thiele, J. Altmuller, B. Fischer-Zirnsak, A. Knaus, N. Zhu, V. Heinrich, C. Huber, I. Harabula, M. Spielmann, D. Horn, U. Kornak, J. Hecht, P. M. Krawitz, P. Nurnberg, R. Siebert, H. Manzke, and S. Mundlos, "Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome," The American Journal of Human Genetics 95 (6), 763-770 (2014).

S. Lohan, M. Spielmann, S. C. Doelken, R. Flottmann, F. Muhammad, S. M. Baig, M. Wajid, W. Hulsemann, R. Habenicht, K. W. Kjaer, S. J. Patil, K. M. Girisha, H. H. Abarca-Barriga, S. Mundlos, and E. Klopocki, "Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome," Clinical Genetics: an international journal of genetics in medicine 86 (4), 318-325 (2014).