P N Robinson

Summary

Affiliation: Humboldt University
Country: Germany

Publications

  1. ncbi request reprint Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies
    Peter N Robinson
    Institute of Medical Genetics, Department of General Pediatrics, Charite University Hospital, Berlin, Germany
    Hum Mutat 20:153-61. 2002
  2. pmc The molecular genetics of Marfan syndrome and related disorders
    P N Robinson
    Institute of Medical Genetics, Charite University Hospital, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
    J Med Genet 43:769-87. 2006
  3. pmc CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait
    Seval Turkmen
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS Genet 5:e1000487. 2009
  4. pmc GOing Bayesian: model-based gene set analysis of genome-scale data
    Sebastian Bauer
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Nucleic Acids Res 38:3523-32. 2010
  5. pmc Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions
    Christian Rödelsperger
    Berlin Brandenburg Center for Regenerative Therapies, Charite Universitatsmedizin Berlin, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Nucleic Acids Res 39:2492-502. 2011
  6. pmc Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders
    Christian Rödelsperger
    Institute for Medical and Human Genetics, Berlin
    Bioinformatics 27:829-36. 2011
  7. pmc MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites
    Claus Eric Ott
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS ONE 6:e16250. 2011
  8. pmc Model-based gene set analysis for Bioconductor
    Sebastian Bauer
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Bioinformatics 27:1882-3. 2011
  9. pmc Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein
    Gao Guo
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS ONE 6:e20138. 2011
  10. pmc Phenotype ontologies and cross-species analysis for translational research
    Peter N Robinson
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, Berlin, Germany Max Planck Institute for Molecular Genetics, Berlin, Germany Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universitat Berlin, Berlin, Germany
    PLoS Genet 10:e1004268. 2014

Detail Information

Publications53

  1. ncbi request reprint Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies
    Peter N Robinson
    Institute of Medical Genetics, Department of General Pediatrics, Charite University Hospital, Berlin, Germany
    Hum Mutat 20:153-61. 2002
    ..The present article intends to provide an overview of mutations found in MFS and related disorders and to discuss potential genotype-phenotype correlations in MFS...
  2. pmc The molecular genetics of Marfan syndrome and related disorders
    P N Robinson
    Institute of Medical Genetics, Charite University Hospital, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
    J Med Genet 43:769-87. 2006
    ..Mutations in FBN1 and other genes found in MFS and related disorders will be discussed, and novel concepts concerning the complex and multiple mechanisms of the pathogenesis of MFS will be explained...
  3. pmc CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait
    Seval Turkmen
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS Genet 5:e1000487. 2009
    ....
  4. pmc GOing Bayesian: model-based gene set analysis of genome-scale data
    Sebastian Bauer
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Nucleic Acids Res 38:3523-32. 2010
    ..Application to a gene expression data set in yeast demonstrates that the method provides high-level, summarized views of core biological processes and correctly eliminates confounding associations...
  5. pmc Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions
    Christian Rödelsperger
    Berlin Brandenburg Center for Regenerative Therapies, Charite Universitatsmedizin Berlin, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Nucleic Acids Res 39:2492-502. 2011
    ..Our study represents a first step in integrating various genomic features in order to elucidate the genomic network of long-range regulatory interactions...
  6. pmc Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders
    Christian Rödelsperger
    Institute for Medical and Human Genetics, Berlin
    Bioinformatics 27:829-36. 2011
    ..Although databases such as dbSNP or HapMap can be used to reduce the plethora of candidate genes by filtering out common variants, the remaining set of genes still remains on the order of dozens...
  7. pmc MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites
    Claus Eric Ott
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS ONE 6:e16250. 2011
    ..Our results demonstrate that multiple miR-29 and miR-15 family MREs are characteristic for some ECM genes and suggest that miR-29 and miR-15 family miRNAs are involved in the down-regulation of elastin in the adult aorta...
  8. pmc Model-based gene set analysis for Bioconductor
    Sebastian Bauer
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Bioinformatics 27:1882-3. 2011
    ..In this work, we present the Bioconductor package mgsa, which makes the MGSA algorithm available to users of the R language. Our package provides a simple and flexible application programming interface for applying the approach...
  9. pmc Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein
    Gao Guo
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS ONE 6:e20138. 2011
    ..Circulation 2006; 114:1855-62)...
  10. pmc Phenotype ontologies and cross-species analysis for translational research
    Peter N Robinson
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, Berlin, Germany Max Planck Institute for Molecular Genetics, Berlin, Germany Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universitat Berlin, Berlin, Germany
    PLoS Genet 10:e1004268. 2014
    ..Finally, we consider the particular challenges involved in modelling neuropsychiatric disorders, which illustrate many of the remaining difficulties in developing comprehensive and unequivocal interspecies phenotype mappings. ..
  11. pmc Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish
    Sandra C Doelken
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Dis Model Mech 6:358-72. 2013
    ....
  12. pmc Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis
    Maria Taboada
    Department of Electronics and Computer Science, University of Santiago de Compostela, Edificio Monte da Condesa, Spain
    BMC Med Inform Decis Mak 12:78. 2012
    ..This paper presents a way of harmonizing abstract phenotype descriptions with patient data from clinical practice, and querying this dataset about relationships between phenotypes and genetic variants, at different levels of abstraction...
  13. doi request reprint Deep phenotyping for precision medicine
    Peter N Robinson
    Institut für Medizinische Genetik und Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    Hum Mutat 33:777-80. 2012
    ....
  14. pmc Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing
    Marten Jäger
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburgerplatz 1, 13353 Berlin, Germany
    BMC Genomics 12:158. 2011
    ..The sheep is an important model organism for many types of medically relevant research, but molecular genetic experiments in the sheep have been limited by the lack of knowledge about ovine gene sequences...
  15. pmc Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep
    Jochen Hecht
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    BMC Genomics 7:172. 2006
    ..Despite these medical uses and the well known economic and cultural importance of the sheep, relatively little research has been performed into sheep genetics, and DNA sequences are available for only a small number of sheep genes...
  16. pmc Exact score distribution computation for ontological similarity searches
    Marcel H Schulz
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    BMC Bioinformatics 12:441. 2011
    ..However, to date, there are no algorithms for computing the exact distribution of semantic similarity scores, which is necessary for computing the exact P-value of a given score...
  17. pmc Improving ontologies by automatic reasoning and evaluation of logical definitions
    Sebastian Kohler
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    BMC Bioinformatics 12:418. 2011
    ..A recent approach of defining terms using logical definitions is now increasingly being adopted as a method for quality control as well as for facilitating interoperability and data integration...
  18. pmc HotSwap for bioinformatics: a STRAP tutorial
    Christoph Gille
    Institute for Biochemistry, Charite University Hospital, Humboldt University, Berlin, Germany
    BMC Bioinformatics 7:64. 2006
    ..Repeatedly loading large datasets can significantly slow down the development process. We have incorporated HotSwap functionality into the protein workbench STRAP, allowing developers to create plugins using the Java HotSwap technique...
  19. doi request reprint Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
    Peter M Krawitz
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Nat Genet 42:827-9. 2010
    ..We identified homozygous or compound heterozygous mutations in PIGV in three additional families...
  20. doi request reprint The human phenotype ontology
    P N Robinson
    Institute for Medical Genetics, Augustenburger Platz 1, 13353 Berlin, Germany
    Clin Genet 77:525-34. 2010
    ..The HPO is freely available at http://www.human-phenotype-ontology.org...
  21. ncbi request reprint Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis
    Peter N Robinson
    Institute of Medical Genetics, Charite University Hospital, Humboldt University, Berlin, Germany
    Hum Mol Genet 13:1969-78. 2004
    ..These results provide strong support for previous speculations that early embryonic expression is associated with CpG islands...
  22. pmc The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease
    Peter N Robinson
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Am J Hum Genet 83:610-5. 2008
    ..We show that the HPO is able to capture phenotypic similarities between diseases in a useful and highly significant fashion...
  23. pmc Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
    Peter N Robinson
    Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Genome Biol 11:144. 2010
    ..Recent work has used a family-based approach and whole-exome sequencing to identify de novo mutations in sporadic cases of mental retardation...
  24. ncbi request reprint The molecular pathogenesis of the Marfan syndrome
    P N Robinson
    Institute of Medical Genetics, Department of General Pediatrics, Charite University Hospital, Berlin, Germany
    Cell Mol Life Sci 58:1698-707. 2001
    ..This article provides an overview of the clinical aspects of the MFS and current thinking on the pathogenesis of this disorder...
  25. ncbi request reprint Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology
    Peter N Robinson
    Institute of Medical Genetics, Charite University Hospital, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
    Bioinformatics 20:979-81. 2004
    ..The application generates one HTML page with listings of the frequencies of explicit and implicit Gene Ontology annotations for each cluster, and separate, linked pages with listings of explicit annotations for each gene in a cluster...
  26. doi request reprint Strategies for exome and genome sequence data analysis in disease-gene discovery projects
    Peter N Robinson
    Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    Clin Genet 80:127-32. 2011
    ....
  27. ncbi request reprint Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40
    F Tiecke
    Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, , Berlin, Germany
    Eur J Hum Genet 9:13-21. 2001
    ..It is not possible to predict whether a given mutation in exons 24-32 will be associated with classic, atypically severe, or neonatal Marfan syndrome...
  28. pmc Clinical diagnostics in human genetics with semantic similarity searches in ontologies
    Sebastian Kohler
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Am J Hum Genet 85:457-64. 2009
    ..We have implemented our methods in a freely available web application for the field of human Mendelian disorders...
  29. pmc Walking the interactome for prioritization of candidate disease genes
    Sebastian Kohler
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Am J Hum Genet 82:949-58. 2008
    ....
  30. ncbi request reprint Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model
    J Hecht
    Max Planck Institute for Molecular Genetics, Ihnestr 73, 14195 Berlin, Germany
    Gene Expr Patterns 7:102-12. 2007
    ..Expression in the developing skeleton was demonstrated for 21 of these genes...
  31. pmc The molecular genetics of Marfan syndrome and related microfibrillopathies
    P N Robinson
    Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charite University Hospital, Humboldt University, D 10098 Berlin, Germany
    J Med Genet 37:9-25. 2000
    ..In this paper we review the molecular physiology and pathophysiology of Marfan syndrome and related microfibrillopathies...
  32. ncbi request reprint A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype
    P Booms
    Department of General Pediatrics, Charite Virchow Medical Center, Humboldt University, Berlin, Germany
    Hum Genet 100:195-200. 1997
    ..Characterization of many different FBN1 mutations from different regions of the gene may provide a better understanding of clinical and biochemical genotype-phenotype relationships...
  33. ncbi request reprint TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies
    Stefanie Katzke
    Institute of Medical Genetics, Charite University Hospital, Berlin, Germany
    Hum Mutat 20:197-208. 2002
    ....
  34. pmc Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
    Katrin Hoffmann
    Institute of Medical Genetics, Charite University Medical School, Humboldt University, 13353 Berlin, Germany
    Am J Hum Genet 79:303-12. 2006
    ....
  35. ncbi request reprint Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis
    Steffen Grossmann
    Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
    Bioinformatics 23:3024-31. 2007
    ....
  36. doi request reprint Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene
    Luitgard M Graul-Neumann
    Institut fur Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Med Genet A 152:2749-55. 2010
    ..However this entity seems heterogeneous. We suggest that our patient and the two similar cases described before represent a new entity, a subgroup of MFS with overlapping features to NPS syndrome...
  37. doi request reprint Ontologizer 2.0--a multifunctional tool for GO term enrichment analysis and data exploration
    Sebastian Bauer
    Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Bioinformatics 24:1650-1. 2008
    ....
  38. ncbi request reprint Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts
    Christian Rödelsperger
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Genomics 94:308-16. 2009
    ..These observations suggest that SUPRs delineate a distinct class of ultraconserved sequences...
  39. ncbi request reprint TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathology
    M Dziubianau
    Berlin Brandenburg Center for Regenerative Therapies, Charite University Medicine Berlin, Berlin, Germany
    Am J Transplant 13:2842-54. 2013
    ..We believe that the established approach will provide insights into the regulation of virus-specific/anti-tumor immunity and has high diagnostic potential in the clinical routine. ..
  40. ncbi request reprint A short ultraconserved sequence drives transcription from an alternate FBN1 promoter
    Gao Guo
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Int J Biochem Cell Biol 40:638-50. 2008
    ....
  41. ncbi request reprint Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment
    Gao Guo
    Institute of Medical Genetics, Charite Universitatsmedizin, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
    Circulation 114:1855-62. 2006
    ..The primary cause of early death in untreated Marfan syndrome (MFS) patients is aortic dilatation and dissection...
  42. ncbi request reprint A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis
    Patrick Booms
    Institute of Medical Genetics, Charite University Hospital, Humboldt University, Augustenburger Platz, 13353 Berlin, Germany
    J Mol Cell Cardiol 40:234-46. 2006
    ..Some of these proteins have been associated with disorders involving alterations in MMP regulation, and the results of the present study suggest a potential mechanism for these observations...
  43. ncbi request reprint RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome
    Patrick Booms
    Institute of Medical Genetics, Charite University Hospital, Humboldt University Berlin, Augustenburger Platz 1, Berlin 13353, Germany
    Hum Genet 116:51-61. 2005
    ....
  44. ncbi request reprint Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis
    Peter N Robinson
    Institut fur Medizinische Genetik, Universitatsklinikum Charite, Berlin, Germany
    Am J Med Genet A 135:251-62. 2005
    ..Our study includes 14 mainly German individuals with SGS evaluated over a period of 10 years. Given that only 23 other persons with SGS have been reported to date worldwide, we suggest that SGS may be more common than previously assumed...
  45. doi request reprint Microindel detection in short-read sequence data
    Peter Krawitz
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, 13353 Berlin
    Bioinformatics 26:722-9. 2010
    ..While several reliable algorithms are available for automated SNV detection, the automated detection of microindels in deep short-read data presents a new bioinformatics challenge...
  46. ncbi request reprint Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding
    Katrin Wenzel
    Department of Cardiology, Franz Volhard Clinic, Helios Clinic, Berlin, Germany
    Hum Mutat 27:599-600. 2006
    ..Nonsense mediated RNA decay or changes in the three-dimensional protein structure resulting in intracellular dysferlin aggregates and finally the lack of dysferlin protein were identified as consequences of the novel DYSF variants...
  47. ncbi request reprint The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences
    Marcel H Schulz
    Institute fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin
    Int J Bioinform Res Appl 4:81-95. 2008
    ..The kTST can offer advantages in computational time and memory usage for searches for short sequences in DNA or protein sequences compared to other suffix-based algorithms...
  48. doi request reprint Bioinformatics for human genetics: promises and challenges
    Annika Lindblom
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    Hum Mutat 32:495-500. 2011
    ..These experts identify the promise-what human geneticists who are not themselves bioinformaticians stand to gain-as well as the challenges and unmet needs that are likely to represent fruitful areas of research...
  49. ncbi request reprint Binary state pattern clustering: a digital paradigm for class and biomarker discovery in gene microarray studies of cancer
    Bradley J Beattie
    Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    J Comput Biol 13:1114-30. 2006
    ..The simulations demonstrate BSPC's substantially greater noise tolerance and confirm the accuracy of our calculations of statistical significance...
  50. ncbi request reprint A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Mol Vis 13:2035-40. 2007
    ..To identify the genetic defect in an autosomal dominant ectopia lentis (EL) family having 27 affected members in four generations...
  51. ncbi request reprint A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family
    Vanita Vanita
    Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
    Am J Med Genet A 140:558-66. 2006
    ..Our findings expand the mutation spectrum of MAF in association with congenital cataract and highlight the genetic and phenotypic heterogeneity of congenital cataract...
  52. ncbi request reprint Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome
    Meike Rybczynski
    Centre of Cardiology and Cardiovascular Surgery, Department of Cardiology and Angiology, University Hospital Hamburg Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
    Clin Cardiol 30:19-24. 2007
    ..With increasing age, however, ventricular arrhythmia and heart failure are emerging as life-threatening manifestations of myocardial dysfunction...
  53. pmc Marfan syndrome: an update of genetics, medical and surgical management
    Yskert von Kodolitsch
    Centre of Cardiology and Cardiovascular Surgery, Department of Cardiology and Angiology, University Hospital Eppendorf, Hamburg, Germany
    Heart 93:755-60. 2007