Krawitz, P. M.; Schweiger, M. R.; Rödelsperger, C.; Marcelis, C.; Kölsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S. et al.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Köhler, S.; Jager, M.; Grünhagen, J.; de Condor, B. J.; Doelken, S.; Brunner, H. G.; Meinecke, P.; Passarge, E.; Thompson, M. D.; Cole, D. E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 42 (10), pp. 827 - 829 (2010)

Neutzsky-Wulff, A. V.; Sims, N. A.; Supanchart, C.; Kornak, U.; Felsenberg, D.; Poulton, I. J.; Martin, T. J.; Karsdal, M. A.; Henriksen, K.: Severe developmental bone phenotype in ClC-7 deficient mice. Developmental Biology 344 (2), pp. 1001 - 1010 (2010)

Brancati, F.; Fortugno, P.; Bottillo, I.; Lopez, M.; Josselin, E.; Boudghene-Stambouli, O.; Agolini, E.; Bernardini, L.; Bellacchio, E.; Iannicelli, M. et al.; Rossi, A.; Dib-Lachachi, A.; Stuppia, L.; Palka, G.; Mundlos, S.; Stricker, S.; Kornak, U.; Zambruno, G.; Dallapiccola, B.: Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. American Journal of Human Genetics 87 (2), pp. 265 - 273 (2010)

Witte, F.; Chan, D.; Economides, A. N.; Mundlos, S.; Stricker, S.: Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region. Proceedings of the National Academy of Sciences U S A 107 (32), pp. 14211 - 14216 (2010)

Kantaputra, P. N.; Klopocki, E.; Hennig, B. P.; Praphanphoj, V.; Le Caignec, C.; Isidor, B.; Kwee, M. L.; Shears, D. J.; Mundlos, S.: Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. European Journal of Human Genetics 18 (12), pp. 1310 - 1314 (2010)

Weinert, S.; Jabs, S.; Supanchart, C.; Schweizer, M.; Gimber, N.; Richter, M.; Rademann, J.; Stauber, T.; Kornak, U.; Jentsch, T. J.: Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation. Science 328 (5984), pp. 1401 - 1403 (2010)

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)

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)