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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)

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)

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)

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)

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)

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

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)

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

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)