Publikationen von P. N. Robinson

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), S. 827 - 829 (2010)

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), S. 827 - 829 (2010)

Bauer, S.; Gagneur, J.; Robinson, P. N.: GOing Bayesian: model-based gene set analysis of genome-scale data. Nucleic Acids Research 38 (11), S. 3523 - 3532 (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), S. 1836 - 1841 (2010)

Robinson, P. N.; Mundlos, S.: The human phenotype ontology. Clinical Genetics 77 (6), S. 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), S. 716 - 724 (2010)

Krawitz, P.; Rödelsperger, C.; Jäger, M.; Jostins, L.; Bauer, S.; Robinson, P. N.: Microindel detection in short-read sequence data. Bioinformatics 26 (6), S. 722 - 729 (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), S. 17 - 32 (2010)

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

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), S. 457 - 464 (2009)

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), S. 308 - 316 (2009)

Ott, C.-E.; Bauer, S.; Manke, T.; Ahrens, S.; Rödelsperger, C.; Grünhagen, J.; Kornak, U.; Duda, G.; Mundlos, S.; Robinson, P. N.: Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts. Journal of Bone and Mineral Research 24 (7), S. 1247 - 1262 (2009)

Türkmen, S.; Guo, G.; Garshasbi, M.; Hoffmann, K.; Alshalah, A. J.; Mischung, C.; Kuss, A.; Humphrey, N.; Mundlos, S.; Robinson, P. N.: CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 5, S. e1000487 - e1000487 (2009)

Robinson, P. N.; Köhler, S.; Bauer, S.; Seelow, D.; Horn, D.; Mundlos, S.: The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease. The American Journal of Human Genetics 83 (5), S. 610 - 615 (2008)

Guo, G.; Bauer, S.; Hecht, J.; Schulz, M. H.; Busche, A.; Robinson, P. N.: A short ultraconserved sequence drives transcription from an alternate FBN1 promoter. The International Journal of Biochemistry & Cell Biology 40 (4), S. 638 - 650 (2008)

Schulz, M. H.; Bauer, S.; Robinson, P. N.: The generalised k-Truncated Suffix Tree for time- and space-efficient searches in multiple DNA or protein sequences. International Journal of Bioinformatics Research and Applications: Ijbra 4 (1), S. 81 - 95 (2008)

Grossmann, S.; Bauer, S.; Robinson, P. N.; Vingron, M.: Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis. Bioinformatics 23 (22), S. 3024 - 3031 (2007)

Hecht, J.; Seitz, V.; Urban, M.; Wagner, F.; Robinson, P. N.; Stiege, A.; Dieterich, C.; Kornak, U.; Wilkening, U.; Brieske, N. et al.; Zwingman, C.; Kidess, A.; Stricker, S.; Mundlos, S.: Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2−/− mouse model. Gene Expression Patterns: A Section of Brain Research Devoted to Patterns of Expression of Genes during the Development, Maturity and Aging of the Central Nervous System 7 (1 - 2), S. 102 - 112 (2007)

Guo, G.; Booms, P.; Halushka, M.; Dietz, H. C.; Ney, A.; Stricker, S.; Hecht, J.; Mundlos, S.; Robinson, P. N.: Induction of Macrophage Chemotaxis by Aortic Extracts of the mgR Marfan Mouse Model and a GxxPG-Containing Fibrillin-1 Fragment. Circulation 17, S. 1855 - 1862 (2006)

Hoffmann, K.; Müller, J. S.; Stricker, S.; Megarbane, A.; Rajab, A.; Lindner, T. H.; Cohen, M.; Chouery, E.; Adaimy, L.; Ghanem, I. et al.; Delague, V.; Boltshauser, E.; Talim, B.; Horvath, R.; Robinson, P. N.; Lochmüller, H.; Hübner, C.; Mundlos, S.: Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit. American Journal of Human Genetics (Chicago, IL) 79 (2), S. 303 - 312 (2006)