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)

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)

Liska, F.; Snajdr, P.; Stricker, S.; Gosele, C.; Krenova, D.; Mundlos, S.; Hubner, N.: Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutation. Folia Biologica 56 (2), pp. 58 - 65 (2010)

Rödelsperger, C.; Dieterich, C.: CYNTENATOR: progressive gene order alignment of 17 vertebrate genomes. PLoS ONE 5 (1), p. e8861 - e8861 (2010)

van Wijk, N. V.; Witte, F.; Feike, A. C.; Schambony, A.; Birchmeier, W.; Mundlos, S.; Stricker, S.: The LIM domain protein Wtip interacts with the receptor tyrosine kinase Ror2 and inhibits canonical Wnt signalling. Biochemical and Biophysical Research Communications 390 (2), pp. 211 - 216 (2009)

Seemann, P.; Brehm, A.; König, J.; Reissner, C.; Stricker, S.; Kuss, P.; Haupt, J.; Renninger, S.; Nickel, J.; Sebald, W. et al.; Groppe, J. C.; Plöger, F.; Schmidt-von Kegler, M.; Walther, M.; Gassner, I.; Rusu, C.; Janecke, A. R.; Dathe, K.; Mundlos, S.: Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. PLoS Genetics 5 (11), p. e1000747 - e1000747 (2009)

Weise, A.; Timmermann, B.; Grabherr, M.; Werber, M.; Heyn, P.; Kosyakova, N.; Liehr, T.; Neitzel, H.; Konrat, K.; Bommer, C. et al.; Dietrich, C.; Rajab, A.; Reinhardt, R.; Mundlos, S.; Lindner, T. H.; Hoffmann, K.: High-throughput sequencing of microdissected chromosomal regions. European Journal of Human Genetics, ejhg.2009.196, pp. 1 - 6 (2009)