Rump, P.; Jongbloed, J. D.; Sikkema-Raddatz, B.; Mundlos, S.; Klopocki, E.; van der Luijt, R. B.: Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. Am J Med Genet A 155A (10), pp. 2566 - 70 (2011)

Rybczynski, M.; Treede, H.; Sheikhzadeh, S.; Groene, E. F.; Bernhardt, A. M.; Hillebrand, M.; Mir, T. S.; Kuhne, K.; Koschyk, D.; Robinson, P. N. et al.; Berger, J.; Reichenspurner, H.; Meinertz, T.; von Kodolitsch, Y.: Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome. Am J Cardiol 107 (2), pp. 268 - 74 (2011)

Schulz, M. H.; Kohler, S.; Bauer, S.; Robinson, P. N.: Exact score distribution computation for ontological similarity searches. BMC Bioinformatics 12, p. 441 (2011)

Sheikhzadeh, S.; Rybczynski, M.; Habermann, C. R.; Bernhardt, A. M.; Arslan-Kirchner, M.; Keyser, B.; Kaemmerer, H.; Mir, T. S.; Staebler, A.; Oezdal, N. et al.; Robinson, P. N.; Berger, J.; Meinertz, T.; von Kodolitsch, Y.: Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2. Clin Genet 79 (6), pp. 568 - 74 (2011)

Skidmore, D. L.; Chitayat, D.; Morgan, T.; Hinek, A.; Fischer, B.; Dimopoulou, A.; Somers, G.; Halliday, W.; Blaser, S.; Diambomba, Y. et al.; Lemire, E. G.; Kornak, U.; Robertson, S. P.: Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS). Am J Med Genet A 155A (8), pp. 1848 - 56 (2011)

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)

Forler, S.: Effekte von Polymorphysmen auf die geschlechtsspezifische Proteinexpression in gesunden und hüpertrophierten Herzen. Dissertation (2011)

Rödelsperger, C.: Computational Characterization of Genome-wide DNA-binding Pro les. Dissertation, Freie Universität Berlin, Berlin (2011)

Bauer, S.: Algorithms for Knoledge Integration in Biomedical Sciences. Dissertation (2011)

Kraft, K.: Polarität von Chondrozyten in den Extremitäten der Hoxd13 Mausmutante synpolydactyly homolog (spdh). Diploma, Technische Universität, Berlin (2011)

Altmeyer, S.: Analyse der BMP Signalwege in Mausmodellen. Master, Freie Universität, Berlin (2011)