Publications of M. Spielmann

Flöttmann, R.; Knaus, A.; Zemojtel, T.; Robinson, P. N.; Mundlos, S.; Horn, D.; Spielmann, M.: 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), pp. 376 - 380 (2015)

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

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

Emmerich, D.; Zemojtel, T.; Hecht, J.; Krawitz, P.; Spielmann, M.; Kühnisch, J.; Kobus, K.; Oßwald, M.; Heinrich, V.; Berlien, P. et al.; Müller, U.; Mautner, V.-F.; Wimmer, K.; Robinson, P. N.; Vingron, M.; Tinschert, S.; Mundlos, S.; Kolanczyk, M.: Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics 23 (6), pp. 1870 - 1873 (2015)

Lupiáñez, D. G.; Kraft, K.; Heinrich, V.; Krawitz, P.; Brancati, F.; Klopocki, E.; Horn, D.; Kayserili, H.; Opitz, J. M.; Laxova, R. et al.; Santos-Simarro, F.; Gilbert-Dussardier, B.; Wittler, L.; Borschiwer, M.; Haas, S. A.; 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 161 (5), pp. 1012 - 1025 (2015)

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

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

Lohan, S.; Spielmann, M.; Doelken, S. C.; Flottmann, R.; Muhammad, F.; Baig, S. M.; Wajid, M.; Hulsemann, W.; Habenicht, R.; Kjaer, K. W. et al.; Patil, S. J.; Girisha, K. M.; Abarca-Barriga, H. H.; Mundlos, S.; Klopocki, E.: 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), pp. 318 - 325 (2014)

Ibn-Salem, J.; Köhler, S.; Love, M. I.; Chung, H.-R.; Huang, N.; Hurles, M. E.; Haendel, M.; Washington, N. L.; Smedley, D.; Mungall, C. J. et al.; Lewis, S. E.; Ott, C. E.; Bauer, S.; Schofield, P. N.; Mundlos, S.; Spielmann, M.; Robinson, P. N.: Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biology: Biology for the Post-Genomic Era 15, 15:423 (2014)

Zemojtel, T.; Köhler, S.; Mackenroth, L.; Jäger, M.; Hecht, J.; Krawitz, P.; Graul-Neumann, L.; Doelken, S.; Ehmke, N.; Spielmann, M. et al.; Oien, N. C.; Schweiger, M. R.; Krüger, U.; Frommer, G.; Fischer, B.; Kornak, U.; Flöttmann, R.; Ardeshirdavani, A.; Moreau, Y.; Lewis, S. E.; Haendel, M.; Smedley, D.; Horn, D.; Mundlos, S.; Robinson, P. N.: Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Science Translational Madicine 6 (252), 252ra123 (2014)

Tayebi, N.; Jamsheer, A.; Flöttmann, R.; Sowinska-Seidler, A.; Doelken, S. C.; Oehl-Jaschkowitz, B.; Hülsemann, W.; Habenicht, R.; Klopocki, E.; Mundlos, S. et al.; Spielmann, M.: Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. Orphanet Journal of Rare Diseases 2014, 9:108 (2014)

Spielmann, M.; Brancati, F.; Krawitz, P. M.; Robinson, P. N.; Ibrahim, D. M.; Franke, M.; Hecht, J.; Lohan, S.; Dathe, K.; Nardone, A. M. et al.; Ferrari, P.; Landi, A.; Wittler, L.; Timmermann, B.; Chan, D.; Mennen, U.; Klopocki, E.; Mundlos, S.: Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. American Journal of Human Genetics 91 (4), pp. 629 - 635 (2012)

Spielmann, M.; Reichelt, G.; Hertzberg, C.; Trimborn, M.; Mundlos, S.; Horn, D.; Klopocki, E.: Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. Eur J Med Genet 54 (4), pp. e441 - 5 (2011)

Cova, G.; Glaser, J.; Schöpflin, R.; Ali, S.; Prada-Medina, C. A.; Franke, M.; Falcone, R.; Federer, M.; Ponzi, E.; Ficarella, R. et al.; Novara, F.; Wittler, L.; Timmermann, B.; Gentile, M.; Zuffardi, O.; Spielmann, M.; Mundlos, S.: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3. (2022)

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