Research Topics
| P N RobinsonSummaryAffiliation: Humboldt University Country: Germany Publications
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Detail Information
Publications
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathiesPeter 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...
The molecular genetics of Marfan syndrome and related disordersP 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...
Deep phenotyping for precision medicinePeter N Robinson
Institut für Medizinische Genetik und Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
Hum Mutat 33:777-80. 2012....- Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healingMarten 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... - Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheepJochen 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... - Exact score distribution computation for ontological similarity searchesMarcel 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... - Improving ontologies by automatic reasoning and evaluation of logical definitionsSebastian 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... - HotSwap for bioinformatics: a STRAP tutorialChristoph 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... - Whole-exome sequencing for finding de novo mutations in sporadic mental retardationPeter 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... - Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter 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... - The human phenotype ontologyP 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... - Strategies for exome and genome sequence data analysis in disease-gene discovery projectsPeter N Robinson
Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
Clin Genet 80:127-32. 2011.... - Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesisPeter 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... - Ontologizing gene-expression microarray data: characterizing clusters with Gene OntologyPeter 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... - The molecular pathogenesis of the Marfan syndromeP 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... - The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary diseasePeter 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... - Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40F 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... - Clinical diagnostics in human genetics with semantic similarity searches in ontologiesSebastian 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... - Walking the interactome for prioritization of candidate disease genesSebastian Kohler
Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
Am J Hum Genet 82:949-58. 2008.... - Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse modelJ 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... - 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 phenotypeP 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... - The molecular genetics of Marfan syndrome and related microfibrillopathiesP 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... - Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-geneLuitgard 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... - Ontologizer 2.0--a multifunctional tool for GO term enrichment analysis and data explorationSebastian Bauer
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
Bioinformatics 24:1650-1. 2008..charite.de/ontologizer. REQUIREMENTS: Ontologizer requires a Java SE 5.0 compliant Java runtime engine and GraphViz for the optional graph visualization tool... - TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathiesStefanie Katzke
Institute of Medical Genetics, Charite University Hospital, Berlin, Germany
Hum Mutat 20:197-208. 2002.... - Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitKatrin Hoffmann
Institute of Medical Genetics, Charite University Medical School, Humboldt University, 13353 Berlin, Germany
Am J Hum Genet 79:303-12. 2006.... - Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysisSteffen Grossmann
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
Bioinformatics 23:3024-31. 2007.... - Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcriptsChristian 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... - GOing Bayesian: model-based gene set analysis of genome-scale dataSebastian 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... - A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysisPatrick 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... - Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragmentGao 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... - CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gaitSeval Turkmen
Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
PLoS Genet 5:e1000487. 2009.... - A short ultraconserved sequence drives transcription from an alternate FBN1 promoterGao Guo
Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
Int J Biochem Cell Biol 40:638-50. 2008.... - The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequencesMarcel 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... - RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndromePatrick Booms
Institute of Medical Genetics, , Humboldt University Berlin, Augustenburger Platz 1, Berlin 13353, Germany
Hum Genet 116:51-61. 2005.... - Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysisPeter N Robinson
, , 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... - Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfoldingKatrin 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... - Microindel detection in short-read sequence dataPeter 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... - Bioinformatics for human genetics: promises and challengesAnnika 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... - Binary state pattern clustering: a digital paradigm for class and biomarker discovery in gene microarray studies of cancerBradley 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... - A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian originVanita 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... - A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian familyVanita 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... - Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndromeMeike 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... - Marfan syndrome: an update of genetics, medical and surgical managementYskert von Kodolitsch
Centre of Cardiology and Cardiovascular Surgery, Department of Cardiology and Angiology, University Hospital Eppendorf, Hamburg, Germany
Heart 93:755-60. 2007