All Publications

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

DOI

Journal Article

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)

MPG.PuRe

DOI

Journal Article

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)

MPG.PuRe

DOI

Full

Journal Article

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)

MPG.PuRe

DOI

Journal Article

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)

MPG.PuRe

DOI

Full

Journal Article

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)

MPG.PuRe

DOI

Full

Journal Article

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)

MPG.PuRe

Full

Journal Article

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

MPG.PuRe

DOI

Full

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

DOI

Journal Article

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)

MPG.PuRe

DOI

Journal Article

Schwarzer, W.; Witte, F.; Rajab, A.; Mundlos, S.; Stricker, S.: A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. Human Molecular Genetics 18 (21), pp. 4013 - 4021 (2009)

MPG.PuRe

DOI

Journal Article

Elefteriou, F.; Kolanczyk, M.; Schindeler, A.; Viskochil, D. H.; Hock, J. M.; Schorry, E. K.; Crawford, A. H.; Friedman, J. M.; Little, D.; Peltonen, J. et al.; Carey, J. C.; Feldman, D.; Yu, X.; Armstrong, L.; Birch, P.; Kendler, D. L.; Mundlos, S.; Yang, F.-C.; Agiostratidou, G.; Hunter-Schaedle, K.; Stevenson, D. A.: Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. American Journal of Medical Genetics Part A 149A (10), pp. 2327 - 2338 (2009)

MPG.PuRe

DOI

Journal Article

Köhler, S.; Schulz, M. H.; Bauer, S.; Dölken, S.; Ott, C. E.; Mundlos, C.; Horn, D.; Mundlos, S.; Robinson, P. N.: Clinical Diagnostics with Semantic Similarity Searches in Ontologies. The American Journal of Human Genetics 85 (4), pp. 457 - 464 (2009)

MPG.PuRe

DOI

Journal Article

Guillard, M.; Dimopoulou, A.; Fischer, B.; Morava, E.; Lefeber, D. J.; Kornak, U.; Wevers, R. A.: Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochimica et Biophysica Acta - Molecular Basis of Disease 1792, pp. 903 - 914 (2009)

MPG.PuRe

DOI

Journal Article

Najm, J.; Horn, D.; Wimplinger, I.; Golden, J. A.; Chizhikov, V. V.; Sudi, J.; Christian, S. L.; Ullmann, R.; Kuechler, A.; Haas, C. A. et al.; Flubacher, A.; Charnas, L. R.; Uyanik, G.; Frank, U.; Klopocki, E.; Dobyns, W. B.; Kutsche, K.: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics 40 (9), pp. 1065 - 1067 (2009)

MPG.PuRe

DOI

Journal Article

Reversade, B.; Escande-Beillard, N.; Dimopoulou, A.; Fischer, B.; Chng, S. C.; Li, Y.; Shboul, M.; Tham, P.-Y.; Kayserili, H.; Al-Gazali, L. et al.; Shahwan, M.; Brancati, F.; Lee, H.; O'Connor, B. D.; Schmidt-von Kegler, M.; Merriman, B.; Nelson, S. F.; Masri, A.; Alkazaleh, F.; Guerra, D.; Ferrari, P.; Nanda, A.; Rajab, A.; Markie, D.; Gray, M.; Nelson, J.; Grix, A.; Sommer, A.; Savarirayan, R.; Janecke, A. R.; Steichen, E.; Sillence, D.; Haußer, I.; Budde, B.; Nürnberg, G.; Nürnberg, P.; Seemann, P.; Kunkel, D.; Zambruno, G.; Dallapiccola, B.; Schuelke, M.; Robertson, S.; Hamamy, H.; Wollnik, B.; Van Maldergem, L.; Mundlos, S.; Kornak, U.: Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics 41, pp. 1016 - 1021 (2009)

MPG.PuRe

DOI

Journal Article

Rödelsperger, C.; Köhler, S.; Schulz, M. H.; Manke, T.; Bauer, S.; Robinson, P. N.: Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts. Genomics 94 (5), pp. 308 - 316 (2009)

MPG.PuRe

DOI

Journal Article

Kurth, I.; Klopocki, E.; Stricker, S.; van Oosterwijk, J.; Vanek, S.; Altmann, J.; Santos, H. G.; van Harssel, J. J. T.; de Ravel, T.; Wilkie, A. O. M. et al.; Gal, A.; Mundlos, S.: Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nature Genetics 41 (8), pp. 862 - 863 (2009)

MPG.PuRe

DOI

Journal Article (452)