All Publications

Max Planck Institute for Molecular Genetics

The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.

Journal Article (51)

Journal Article

Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K. et al.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.: Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet 88 (1), pp. 70 - 5 (2011)

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Kohler, S.; Bauer, S.; Mungall, C. J.; Carletti, G.; Smith, C. L.; Schofield, P.; Gkoutos, G. V.; Robinson, P. N.: Improving ontologies by automatic reasoning and evaluation of logical definitions. BMC Bioinformatics 12, p. 418 (2011)

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Kolanczyk, M.; Mautner, V.; Kossler, N.; Nguyen, R.; Kuhnisch, J.; Zemojtel, T.; Jamsheer, A.; Wegener, E.; Thurisch, B.; Tinschert, S. et al.; Holtkamp, N.; Park, S. J.; Birch, P.; Kendler, D.; Harder, A.; Mundlos, S.; Kluwe, L.: MIA is a potential biomarker for tumour load in neurofibromatosis type 1. BMC Med 9, p. 82 (2011)

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Kolanczyk, M.; Pech, M.; Zemojte, T.; Yamamoto, H.; Mikula, I.; Calvaruso, M.-A.; van den Brand, M.; Richter, R.; Fischer, B.; Ritz, A. et al.; Kossler, N.; Thurisch, B.; Spoerle, R.; Smeitink, J.; Kornak, U.; Chan, D.; Vingron, M.; Martasek, P.; Lightowlers, R. N.; Nijtmans, L.; Schuelke, M.; Nierhaus, K. H.; Mundlos, S.: NOA1 is an essential GTPase required for mitochondrial protein synthesis. Molecular Biology of the Cell 22 (1), pp. 1 - 11 (2011)

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Kornak, U.: Animal models with pathological mineralization phenotypes. Joint Bone Spine 78 (6), pp. 561 - 7 (2011)

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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)

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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)

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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)

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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)

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

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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