Peter Robinson - Dissemin

Papers authored by Peter Robinson

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2011 Meike Rybczynski, Hendrik Treede, Sara Sheikhzadeh, Eike F. Groene, Alexander M. J. Bernhardt, Mathias Hillebrand, Thomas S. Mir, Kristine Kühne, Dietmar Koschyk, Peter N. Robinson

, Jürgen Berger, Hermann Reichenspurner, Thomas Meinertz, Yskert von Kodolitsch

Predictors of Outcome of Mitral Valve Prolapse in Patients With the Marfan Syndrome

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Marcel H. Schulz, Sebastian Köhler

, Sebastian Bauer, Peter N. Robinson

Exact score distribution computation for ontological similarity searches

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2010 Daniel Horbelt, Gao Guo, Peter N. Robinson

, Petra Knaus

Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity

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Luitgard M. Graul Neumann, Tina Kienitz, Peter N. Robinson

, Sevjidmaa Baasanjav, Benjamin Karow, Gabriele Gillessen-Kaesbach, Raimund Fahsold, Hartmut Schmidt, Katrin Hoffmann, Eberhard Passarge

Marfan Syndrome With Neonatal Progeroid Syndrome-Like Lipodystrophy Associated With a Novel Frameshift Mutation at the 3 ' Terminus of the FBN1-Gene

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Meike Rybczynski, Thomas S. Mir, Sara Sheikhzadeh, Alexander M. J. Bernhardt, Claudia Schad, Hendrik Treede, Simon Veldhoen, Eike F. Groene, Kristin Kühne, Dietmar Koschyk, Peter N. Robinson

, Jürgen Berger, Hermann Reichenspurner, Thomas Meinertz, Yskert von Kodolitsch

Frequency and Age-Related Course of Mitral Valve Dysfunction in the Marfan Syndrome

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K. Mortensen, J. Baulmann, M. Rybczynski, S. Sheikhzadeh, M. A. Aydin, H. Treede, E. Dombrowski, K. Kuhne, P. Peitsmeier, C. R. Habermann, P. N. Robinson

, M. Stuhrmann, J. Berger, T. Meinertz, Y. von Kodolitsch

Augmentation Index and the Evolution of Aortic Disease in Marfan-Like Syndromes

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S. Sheikhzadeh, M. Rybczynski, Cr R. Habermann, Amj M. J. Bernhardt, M. Arslan-Kirchner, B. Keyser, H. Kaemmerer, Ts S. Mir, A. Staebler, N. Oezdal, Pn N. Robinson

, J. Berger, T. Meinertz, Y. Von Kodolitsch

Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.

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Meike Rybczynski, Dietmar Koschyk, Andreas Karmeier, Nele Gessler, Sara Sheikhzadeh, Alexander M. J. Bernhardt, Christian R. Habermann, Hendrik Treede, Jürgen Berger, Peter N. Robinson

, Thomas Meinertz, Yskert von Kodolitsch

Frequency of Sleep Apnea in Adults With the Marfan Syndrome

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Heather J. Howard, Ourania Horaitis, Richard G. H. Cotton, Mauno Vihinen, Raymond Dalgleish, Peter Robinson

, Anthony J. Brookes, Myles Axton, Robert Hoffmann, Sylvie Tuffery-Giraud

The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards”

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Sebastian Bauer, Julien Gagneur, Peter N. Robinson

GOing Bayesian: model-based gene set analysis of genome-scale data

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Y. von Kodolitsch, M. Rybczynski, A. Bernhardt, T. S. Mir, H. Treede, A. Dodge-Khatami, P. N. Robinson

, S. Sheikhzadeh, H. Reichenspurner, T. Meinertz

Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: Do we need genetics for clinical decisions?

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Christian Rödelsperger, Gao Guo, Mateusz Kolanczyk, Angelika Pletschacher, S. Kohler

, Sebastian Köhler, Sebastian Bauer, Marcel H. Schulz, Peter N. Robinson

Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions.

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Peter N. Robinson

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation

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Peter M. Krawitz, Michal R. Schweiger, C. Rodelsperger, Christian Rödelsperger, Carlo L. M. Marcelis, Uwe Kölsch, U. Kolsch, Christian Meisel, Friederike Stephani, Taroh Kinoshita, Yoshiko Murakami, Sebastian Bauer, Melanie Isau, Axel Fischer, Andreas Dahl and 18 other authors

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

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Delphine Detaint, Laurence Faivre

, Gwenaelle Collod-Beroud, Anne H. Child, Bart L. Loeys, Christine Binquet, Elodie Gautier, Chantal Stheneur, Eloisa Arbustini, Karin Mayer, Dorothy Halliday, Henri Plauchu, Mine Arslan-Kirchner, Christophe Beroud, Peter N. Robinson

and 9 other authors

Cardiovascular manifestations in men and women carrying a FBN1 mutation

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Peter Krawitz, Christian Rödelsperger, M. Jager, Marten Jäger, Luke Jostins, Sebastian Bauer, Peter N. Robinson

Microindel detection in short-read sequence data

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2009 Christian Rödelsperger, Sebastian Köhler

, Marcel H. Schulz, Thomas Manke, Sebastian Bauer, Peter N. Robinson

Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts

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Sebastian Köhler

, Marcel H. Schulz, Peter Krawitz, Sebastian Bauer, Sandra Dölken, Claus E. Ott, Christine Mundlos, Denise Horn, Stefan Mundlos, Peter N. Robinson

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

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K. Mortensen, M. A. Aydin, M. Rybczynski, J. Baulmann, N. Abdul Schahidi, G. Kean, K. Kuhne, A. M. J. Bernhardt, O. Franzen, T. Mir, C. Habermann, D. Koschyk, R. Ventura, S. Willems, P. N. Robinson

and 4 other authors

Augmentation Index Relates to Progression of Aortic Disease in Adults With Marfan Syndrome

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Seval Türkmen, Gao Guo, Masoud Garshasbi, Katrin Hoffmann, Amjad J. Alshalah, Claudia Mischung, Andreas Kuss

, Nicholas Humphrey, Stefan Mundlos, Peter N. Robinson

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

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Papers authored by Peter Robinson