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 (43)

Journal Article

Ott, C. E.; Leschik, G.; Trotier, F.; Brueton, L.; Brunner, H. G.; Brussel, W.; Guillen-Navarro, E.; Haase, C.; Kohlhase, J.; Kotzot, D. et al.; Lane, A.; Lee-Kirsch, M. A.; Morlot, S.; Simon, M. E.; Steichen-Gersdorf, E.; Tegay, D. H.; Peters, H.; Mundlos, S.; Klopocki, E.: Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Human Mutation 31 (8), pp. E1587 - 93 (2010)

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Bauer, S.; Gagneur, J.; Robinson, P. N.: GOing Bayesian: model-based gene set analysis of genome-scale data. Nucleic Acids Research 38 (11), pp. 3523 - 3532 (2010)

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Villavicencio-Lorini, P.; Kuss, P.; Friedrich, J.; Haupt, J.; Farooq, M.; Turkmen, S.; Duboule, D.; Hecht, J.; Mundlos, S.: Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation. Journal of Clinical Investigation 120 (6), pp. 1994 - 2004 (2010)

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Clayton, P.; Fischer, B.; Mann, A.; Mansour, S.; Rossier, E.; Veen, M.; Lang, C.; Baasanjav, S.; Kieslich, M.; Brossuleit, K. et al.; Gravemann, S.; Schnipper, N.; Karbasyian, M.; Demuth, I.; Zwerger, M.; Vaya, A.; Utermann, G.; Mundlos, S.; Stricker, S.; Sperling, K.; Hoffmann, K.: Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. Nucleus 1 (4), pp. 354 - 366 (2010)

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Kramer, M.; Backhaus, O.; Rosenstiel, P.; Horn, D.; Klopocki, E.; Birkenmeier, G.; Schreiber, S.; Platzer, M.; Hampe, J.; Huse, K.: Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing. Gene 455 (1-2), pp. 1 - 7 (2010)

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Rybczynski, M.; Koschyk, D.; Karmeier, A.; Gessler, N.; Sheikhzadeh, S.; Bernhardt, A. M.J.; Habermann, C. R.; Treede, H.; Berger, J.; Robinson, P. N. et al.; Meinertz, T.; von Kodolitsch, Y.: Frequency of sleep apnea in adults with the Marfan syndrome. American Journal of Cardiology 106 (1), pp. 1836 - 1841 (2010)

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Robinson, P. N.; Mundlos, S.: The human phenotype ontology. Clinical Genetics 77 (6), pp. 525 - 534 (2010)

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Mortensen, K.; Baulmann, J.; Rybczynski, M.; Sheikhzadeh, S.; Aydin, M. A.; Treede, H.; Dombrowski, E.; Kühne, K.; Peitsmeier, P.; Habermann, C. R. et al.; Robinson, P. N.; Stuhrmann, M.; Berger, J.; Meinertz, T.; von Kodolitsch, Y.: Augmentation index and the evolution of aortic disease in marfan-like syndromes. American Journal of Hypertension 23 (7), pp. 716 - 724 (2010)

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Ratzka, A.; Mundlos, S.; Vortkamp, A.: Expression patterns of sulfatase genes in the developing mouse embryo. Developmental Dynamics 239 (6), pp. 1779 - 1788 (2010)

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de Vernejoul, M. C.; Kornak, U.: Heritable sclerosing bone disorders: presentation and new molecular mechanisms. Annals of the New York Academy of Sciences 1192, pp. 269 - 277 (2010)

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Phadke, S. R.; Fischer, B.; Gupta, N.; Ranganath, P.; Kabra, M.; Kornak, U.: Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. Indian J Med Res 131, pp. 508 - 514 (2010)

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Kornak, U.; Brancati, F.; Le Merrer, M.; Lichtenbelt, K.; Höhne, W.; Tinschert, S.; Garaci, F. G.; Dallapiccola, B.; Nürnberg, P.: Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. American Journal of Medical Genetics Part A 152A (4), pp. 870 - 874 (2010)

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Krawitz, P.; Rödelsperger, C.; Jäger, M.; Jostins, L.; Bauer, S.; Robinson, P. N.: Microindel detection in short-read sequence data. Bioinformatics 26 (6), pp. 722 - 729 (2010)

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Klopocki, E.; Hennig, B. P.; Dathe, K.; Koll, R.; de Ravel, T.; Baten, E.; Blom, E.; Gillerot, Y.; Weigel, J. F.; Krüger, G. et al.; Hiort, O.; Seemann, P.; Mundlos, S.: Deletion and point mutations of PTHLH cause brachydactyly type E. The American Journal of Human Genetics 86 (3), pp. 434 - 439 (2010)

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Kunte, H.; Trendelenburg, G.; Matzen, J.; Ventz, M.; Kornak, U.; Harms, L.: Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation. Neuro Endocrinology Letters 31 (3), pp. 301 - 303 (2010)

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Witte, F.; Bernatik, O.; Kirchner, K.; Masek, J.; Mahl, A.; Krejci, P.; Mundlos, S.; Schambony, A.; Bryja, V.; Stricker, S.: Negative regulation of Wnt signaling mediated by CK1-phosphorylated Dishevelled via Ror2. The FASEB Journal 24 (7), pp. 2417 - 2426 (2010)

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Jensen, L. R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Nümann, A.; Janecke, A. R.; Spörle, R.; Stricker, S.; Raynaud, M.; Nelson, J. et al.; Hackett, A.; Fryns, J.-P.; Chelly, J.; de Brouwer, A. P. M.; Hamel, B.; Gecz, J.; Ropers, H.-H.; Kuss, A. W.: A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics 3, p. 2 - 2 (2010)

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Jensen, L. R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Nümann, A.; Janecke, A. R.; Spörle, R.; Stricker, S.; Raynaud, M.; Nelson, J. et al.; Hackett, A.; Fryns, J.-P.; Chelly, J.; de Brouwer, A. P. M.; Hamel, B.; Gecz, J.; Ropers, H.-H.; Kuss, A. W.: A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C. Pathogenetics 2 (3), p. 2 - 2 (2010)

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von Kodolitsch, Y.; Rybczynski, M.; Bernhardt, A.; Mir, T. S.; Treede, H.; Dodge-Khatami, A.; Robinson, P. N.; Sheikhzadeh, S.; Reichenspurner, H.; Meinertz, T.: Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions? European Journal for Vascular Medicine 39 (1), pp. 17 - 32 (2010)

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Grohmann, M.; Hammer, P.; Walther, M.; Paulmann, N.; Büttner, A.; Eisenmenger, W.; Baghai, T. C.; Schüle, C.; Rupprecht, R.; Bader, M. et al.; Bondy, B.; Zill, P.; Priller, J.; Walther, D. J.: Alternative Splicing and Extensive RNA Editing of Human TPH2 Transcripts. PLoS ONE 5 (1), p. e8956 - e8956 (2010)

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