Kortum, F.; Das, S.; Flindt, M.; Morris-Rosendahl, D. J.; Stefanova, I.; Goldstein, A.; Horn, D.; Klopocki, E.; Kluger, G.; Martin, P. et al.; Rauch, A.; Roumer, A.; Saitta, S.; Walsh, L. E.; Wieczorek, D.; Uyanik, G.; Kutsche, K.; Dobyns, W. B.: The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 48 (6), pp. 396 - 406 (2011)

Kossler, N.; Stricker, S.; Rodelsperger, C.; Robinson, P. N.; Kim, J.; Dietrich, C.; Osswald, M.; Kuhnisch, J.; Stevenson, D. A.; Braun, T. et al.; Mundlos, S.; Kolanczyk, M.: Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet 20 (14), pp. 2697 - 709 (2011)

Lange, C.; Li, C.; Manjubala, I.; Wagermaier, W.; Kuhnisch, J.; Kolanczyk, M.; Mundlos, S.; Knaus, P.; Fratzl, P.: Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite. J Struct Biol 176 (2), pp. 159 - 67 (2011)

Leushacke, M.; Sporle, R.; Bernemann, C.; Brouwer-Lehmitz, A.; Fritzmann, J.; Theis, M.; Buchholz, F.; Herrmann, B. G.; Morkel, M.: An RNA interference phenotypic screen identifies a role for FGF signals in colon cancer progression. PLoS ONE 6 (8), p. e23381 - e23381 (2011)

Lindblom, A.; Robinson, P. N.: Bioinformatics for human genetics: promises and challenges. Hum Mutat 32 (5), pp. 495 - 500 (2011)

Liu, Z.; Fusi, A.; Klopocki, E.; Schmittel, A.; Tinhofer, I.; Nonnenmacher, A.; Keilholz, U.: Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patients. J Transl Med 9, p. 70 (2011)

Marchal, J. A.; Ghani, M.; Schindler, D.; Gavvovidis, I.; Winkler, T.; Esquitino, V.; Sternberg, N.; Busche, A.; Krawitz, P.; Hecht, J. et al.; Robinson, P.; Mundlos, S.; Graul-Neumann, L.; Sperling, K.; Trimborn, M.; Neitzel, H.: Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. Cell Cycle 10 (17), pp. 2967 - 77 (2011)

Mohamed, M.; Kouwenberg, D.; Gardeitchik, T.; Kornak, U.; Wevers, R. A.; Morava, E.: Metabolic cutis laxa syndromes. J Inherit Metab Dis 34 (4), pp. 907 - 16 (2011)

Morava, E.; Kuhnisch, J.; Drijvers, J. M.; Robben, J. H.; Cremers, C.; van Setten, P.; Branten, A.; Stumpp, S.; de Jong, A.; Voesenek, K. et al.; Vermeer, S.; Heister, A.; Claahsen-van der Grinten, H. L.; O'Neill, C. W.; Willemsen, M. A.; Lefeber, D.; Deen, P. M.; Kornak, U.; Kremer, H.; Wevers, R. A.: Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. J Clin Endocrinol Metab 96 (1), pp. E189 - 98 (2011)

Ott, C. E.; Grunhagen, J.; Jager, M.; Horbelt, D.; Schwill, S.; Kallenbach, K.; Guo, G.; Manke, T.; Knaus, P.; Mundlos, S. et al.; Robinson, P. N.: MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS ONE 6 (1), p. e16250 (2011)

Pangrazio, A.; Cassani, B.; Guerrini, M. M.; Crockett, J. C.; Marrella, V.; Zammataro, L.; Strina, D.; Schulz, A.; Schlack, C.; Kornak, U. et al.; Mellis, D. J.; Duthie, A.; Helfrich, M. H.; Durandy, A.; Moshous, D.; Vellodi, A.; Chiesa, R.; Veys, P.; Iacono, N. L.; Vezzoni, P.; Fischer, A.; Villa, A.; Sobacchi, C.: RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. J Bone Miner Res (2011)

Robinson, P. N.; Krawitz, P.; Mundlos, S.: Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Clin Genet 80 (2), pp. 127 - 32 (2011)

Rodelsperger, C.; Guo, G.; Kolanczyk, M.; Pletschacher, A.; Kohler, 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 Res 39 (7), pp. 2492 - 502 (2011)

Rodelsperger, C.; Krawitz, P.; Bauer, S.; Hecht, J.; Bigham, A. W.; Bamshad, M.; de Condor, B. J.; Schweiger, M. R.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 27 (6), pp. 829 - 36 (2011)

Rodelsperger, C.; Krawitz, P.; Bauer, S.; Hecht, J.; Bigham, A. W.; Bamshad, M.; de Condor, B. J.; Schweiger, M. R.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 27 (6), pp. 829 - 36 (2011)

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)