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)

Stricker, S.; Mathia, S.; Haupt, J.; Seemann, P.; Meier, J.; Mundlos, S.: Odd-Skipped Related Genes Regulate Differentiation of Embryonic Limb Mesenchyme and Bone Marrow Mesenchymal Stromal Cells. Stem Cells Dev (2011)

Stricker, S.; Mundlos, S.: FGF and ROR2 receptor tyrosine kinase signaling in human skeletal development. Curr Top Dev Biol 97, pp. 179 - 206 (2011)

Stricker, S.; Mundlos, S.: Mechanisms of digit formation: Human malformation syndromes tell the story. Dev Dyn 240 (5), pp. 990 - 1004 (2011)

Turkmen, S.; Riehn, M.; Klopocki, E.; Molkentin, M.; Reinhardt, R.; Burmeister, T.: A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1. Genes Chromosomes Cancer 50 (6), pp. 389 - 96 (2011)

Warman, M. L.; Cormier-Daire, V.; Hall, C.; Krakow, D.; Lachman, R.; LeMerrer, M.; Mortier, G.; Mundlos, S.; Nishimura, G.; Rimoin, D. L. et al.; Robertson, S.; Savarirayan, R.; Sillence, D.; Spranger, J.; Unger, S.; Zabel, B.; Superti-Furga, A.: Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 155A (5), pp. 943 - 68 (2011)

Robinson, P. N.: Whole-exome sequencing for finding de novo mutations in sporadic mental retardation. Genome Biology 11 (12), p. 11:144 - 11:144 (2010)

Horbelt, D.; Guo, G.; Robinson, P. N.; Knaus, P.: Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. Journal of Cell Science 123 (Pt 24), pp. 4340 - 4350 (2010)

Timmermann, B.; Kerick, M.; Roehr, C.; Fischer, A.; Isau, M.; Boerno, S. T.; Wunderlich, A.; Barmeyer, C.; Seemann, P.; Koenig, J. et al.; Lappe, M.; Kuss, A. W.; Garshasbi, M.; Bertram, L.; Trappe, K.; Werber, M.; Herrmann, B. G.; Zatloukal, K.; Lehrach, H.; Schweiger, M. R.: Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PLoS ONE 5 (12), p. e15661 - e15661 (2010)

Harder, A.; Titze, S.; Herbst, L.; Harder, T.; Guse, K.; Tinschert, S.; Kaufmann, D.; Rosenbaum, T.; Mautner, V. F.; Windt, E. et al.; Wahlländer-Danek, U.; Wimmer, K.; Mundlos, S.; Peters, H.: Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1. Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies. 13 (6), pp. 582 - 594 (2010)

Lacombe, D.; Delrue, M. A.; Rooryck, C.; Morice-Picard, F.; Arveiler, B.; Maugey-Laulom, B.; Mundlos, S.; Toutain, A.; Chateil, J. F.: Brachydactyly type A1 with short humerus and associated skeletal features. American Journal of Medical Genetics Part A 152A (12), pp. 3016 - 3021 (2010)

Rödelsperger, C.; Guo, G.; Kolanczyk, M.; Pletschacher, A.; Köhler, S.; Bauer, S.; Schulz, M. H.; Robinson, P. N.: Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Research 24 (2), pp. 1 - 11 (2010)

Graul-Neumann, L. M.; Kienitz, T.; Robinson, P. N.; Baasanjav, S.; Karow, B.; Gillessen-Kaesbach, G.; Fahsold, R.; Schmidt, H.; Hoffmann, K.; Passarge, E.: Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. American Journal of Medical Genetics Part A 152A (11), pp. 2749 - 2755 (2010)

Horn, D.; Kapeller, J.; Rivera-Brugues, N.; Moog, U.; Lorenz-Depiereux, B.; Eck, S.; Hempel, M.; Wagenstaller, J.; Gawthrope, A.; Monaco, A. P. et al.; Bonin, M.; Riess, O.; Wohlleber, E.; Illig, T.; Bezzina, C. R.; Franke, A.; Spranger, S.; Villavicencio-Lorini, P.; Seifert, W.; Rosenfeld, J.; Klopocki, E.; Rappold, G. A.; Strom, T. M.: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Human Mutation 31 (11), pp. E1851 - E1860 (2010)

Albrecht, B.; de Brouwer, A. P.; Lefeber, D. J.; Cremer, K.; Hausser, I.; Rossen, N.; Wortmann, S. B.; Wevers, R. A.; Kornak, U.; Morava, E.: MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. American Journal of Medical Genetics. Part A. 152A (11), pp. 2916 - 2918 (2010)

Kantaputra, P. N.; Mundlos, S.; Sripathomsawat, W.: A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. American Journal of Medical Genetics Part A 152A (11), pp. 2832 - 2837 (2010)

Rybczynski, M.; Mir, T. S.; Sheikhzadeh, S.; Bernhardt, A. M.; Schad, C.; Treede, H.; Veldhoen, S.; Groene, E. F.; Kühne, K.; Koschyk, D. et al.; Robinson, P. N.; Berger, J.; Reichenspurner, H.; Meinertz, T.; von Kodolitsch, Y.: Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. American Journal of Cardiol 106 (7), pp. 1048 - 1053 (2010)

Belavy, D. L.; Bock, O.; Borst, H.; Armbrecht, G.; Gast, U.; Degner, C.; Beller, G.; Soll, H.; Salanova, M.; Habazettl, H. et al.; Heer, M.; de Haan, A.; Stegeman, D. F.; Cerretelli, P.; Blottner, D.; Rittweger, J.; Gelfi, C.; Kornak, U.; Felsenberg, D.: The 2nd Berlin BedRest Study: protocol and implementation. Journal of Musculoskeletal and Neuronal Interaction 10 (3), pp. 207 - 219 (2010)

Krawitz, P. M.; Schweiger, M. R.; Rödelsperger, C.; Marcelis, C.; Kölsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S. et al.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Köhler, S.; Jager, M.; Grünhagen, J.; de Condor, B. J.; Doelken, S.; Brunner, H. G.; Meinecke, P.; Passarge, E.; Thompson, M. D.; Cole, D. E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 42 (10), pp. 827 - 829 (2010)

Krawitz, P. M.; Schweiger, M. R.; Rödelsperger, C.; Marcelis, C.; Kölsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S. et al.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Köhler, S.; Jager, M.; Grünhagen, J.; de Condor, B. J.; Doelken, S.; Brunner, H. G.; Meinecke, P.; Passarge, E.; Thompson, M. D.; Cole, D. E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 42 (10), pp. 827 - 829 (2010)