More Robinson publications

  • L Kuchenbecker, M Nienen, J Hecht, AU Neumann, N Babel, K Reinert, PN Robinson (2015)
    IMSEQ - a fast and error aware approach to immunogenetic sequence analysis.
    Bioinformatics, [epub ahead of print]
  • SK Westbury et al. (2015) 
    Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
    Genome Med.7 (1): 36
  • T Groza, T Tudorache, PN Robinson, A Zankl (2015)
    Capturing domain knowledge from multiple sources: the rare bone disorders use case.
    J Biomed Semantics6: 21
  • D Smedley et al. (2014)
    Use of animal models for exome prioritization of rare disease genes.
    Orphanet J Rare Dis., 9 (1): 836
  • T Groza et al. (2015)
    Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora.
    Database (Oxford), 2015: bav005
  • AR Deans et al. (2015)
    Finding our way through phenotypes.
    PLoS Biol., 13 (1): e1002033
  • T Kagawa et al. (2014)
    Recessive inheritance of population-specific intronic LINE-1 insertion causes a Rotor syndrom phenotype.
    Hum Mutat., 36 (3): 327-32
  • S Sheikhzadeh et al. (2014)
    The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values and the frequency of dilatation and aneurysm in Marfan syndrome.
    Orphanet J Rare Dis., 9 (1): 203
  • PN Robinson (2014)
    Genomic data sharing for translational research and diagnostics.
    Genome Med., 6 (9): 78
  • J Grünhagen et al. (2014)
    MiR-497~195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling.
    J Bone Miner Res., 30 (5): 796-808
  • MA Mensah et al. (2014)
    Pseudoautosomal region 1 length polymorphism in the human population.
    PLoS Genet., 10 (11): e1004578
  • N Ehmke et al. (2014)
    First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
    Am J Med Genet A., 164 (12): 3170-5
  • PM Krawitz et al. (2014)
    Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
    Mol Genet Genomic Med., 2 (5): 393-401
  • D Emmerich et al. (2015)
    Somatic neurofibromatosis type I (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
    Eur J Hum Genet., 23 (6): 870-3
  • J Ibn-Salem et al. (2014)
    Deletions of chromosomal regulatory boundaries are associated with congenital disease.
    Genome Biol., 15 (9): 423
  • S Köhler et al. (2014)
    Clinical interpretation of CNVs with cross-species phenotype data.
    J Med Genet., 51 (11): 766-72
  • T Zemojtel et al. (2014)
    Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
    Sci Transl Med., 6 (252): 252ra123
  • V Vanita, G Guo, D Singh, CE Ott, PN Robinson (2014)
    Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.
    Mol Cell Biochem., 396 (1-2): 137-45
  • D Smedley et al. (2014)
    Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.
    Bioinformatics, 30 (22): 3215-22
  • M Hillebrand et al. (2014)
    Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes.
    Clin Cardiol., 37 (11): 672-9
  • M Kolanczyk et al. (2014)
    Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
    Eur J Hum Genet., 23 (5): 720
  • A Jamsheer et al. (2014)
    Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4/5.
    Birth Defects Res A Clin Mol Teratol., 100 (4): 314-8
  • MF Howard et al. (2014)
    Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
    Am J Hum Genet., 94 (2): 278-87
  • PN Robinson et al. (2014)
    Improved exome prioritization of disease genes through cross-species phenotype comparison.
    Genome Res., 24 (2): 340-8
  • A Aydin et al. (2013)
    Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.
    PLoS One, 8 (12): e81281
  • S Köhler et al. (2014)
    The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
    Nucleic Acids Res., 42 (1): D966-74
  • PN Robinson (2013)
    A systematic large-scale phenotypic analysis of de novo and inherited copy number variation.
    Hum Mutat., 34 (12): v
  • D Horn et al. (2013). 
    Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
    Eur J Hum Genet., 22 (6): 762-7
  • M Dziubianau et al. (2013). 
    TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathology.
    Am J Transplant., 13 (11): 2842-54
  • DM Ibrahim et al. (2013)
    Distinct global shifts in genomic binding profiles of limb malformation associated HOXD13 mutations.
    Genome Res.,
    23 (12): 2091-102
  • S Sheikhzadeh et al. (2013)
    Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation.
    Clin Genet., 86 (3): 238-45
  • T Kamphans et al. (2013)
    Filtering for compound heterozygous sequence variants in non-cosanguineous pedigrees.
    PLoS One, 8 (8): e70151
  • J Grosjean et al. (2013)
    Integrating the Human Phenotype Ontology into HeTOP terminology-ontology server.
    Stud Health Technol Inform., 192: 961
  • V Heinrich et al. (2013)
    Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects.
    Genome Med.5 (7): 69
  • G Guo, C Rödelsperger, M Digweed, PN Robinson (2013)
    Regulation of fibrillin-1 gene expression by Sp1.
    Gene, 527 (2): 448-55
  • PM Krawitz et al. (2013)
    A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.
    Blood, 122 (7): 1312-5
  • PM Krawitz et al. (2013)
    PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. 
    Am J Hum Genet., 92 (4): 584-9
  • R Roncarati et al. (2013)
    Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.
    Eur J Hum Genet., 21 (10):1105-11
  • D Kotlarz et al. (2013)
    Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
    J Exp Med., 210 (3): 433-43
  • WS Oetting et al. (2013)
    Getting ready for the human phenome project: The 2012 forum of the human variome project.
    Hum Mutat., 34 (4) :661-6
  • S Schwill et al. (2013)
    The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta.
    J Vasc Surg., 57 (6): 1628-36
  • R Bhushan et al. (2012)
    miR-181a promotes osteoblastic differentiation through repression of TGF-beta signaling molecules.
    Int J Biochem Cell Biol., 45 (3): 696-705
  • K Kühne et al. (2012)
    FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression.
    Int J Cardiol., 168 (2): 953-959
  • SC Doelken et al. (2012)
    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.
    Dis Model Mech., 6 (2): 358-72
  • V Carmignac et al. (2012)
    In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg Syndrome.
    Am J Hum Genet., 91 (5): 950-7
  • M Taboada, V Alvarez, D Martínez, B Pilo, PN Robinson, MJ Sobrido (2012)
    Summarizing phenotype evolution patterns from report cases.
    J Med Syst., 36 (1 Supp): 25-36
  • G Guo et al. (2012)
    Antagonism of GxxPG-fragments ameliorates manifestations of aortic disease in Marfan Syndrome mice.
    Hum Mol Genet., 22 (3): 433-43
  • M Spielmann et al. (2012)
    Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
    Am J Hum Genet., 91 (4): 629-35
  • S Saini, PN Robinson, JR Singh, V Vanita (2012)
    A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family.
    Exp Eye Res., 104: 82-8
  • M Taboada, D Martínez, B Pilo, A Jimínez-Escrig, PN Robinson, MJ Sobrido (2012)
    Querying phenotype-genotype relationships on patient datasets using semantic web technology:
    the example of cerebrotendinous xanthomatosis.
    BMC Med Inform Decis Mak., 12 (1): 78
  • S Bauer, S Köhler, MH Schulz, PN Robinson (2012)
    Bayesian Ontology Querying for accurate and noise-tolerant semantic searches.
    Bioinformatics, 28 (19): 2502-8
  • M Ghani-Kakhki et al. (2012)
    Two missense mutations in the primary autosomal recessive microcephaly gene MCPH1 disrupt the function
    of the highly conserved N-terminal BRCT domain of microcephalin.
    Mol Syndromol., 3 (1): 6-13
  • E Kiliç et al. (2012)
    Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.
    Turk J Pediatr., 54 (2): 198-202
  • PM Krawitz et al. (2012)
    Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
    Am J Hum Genet., 91 (1): 146-51
  • S Köhler, SC Doelken, A Rath, S Aymé, PN Robinson (2012)
    Ontological phenotype standards for neurogenetics.
    Hum Mutat., 33 (9): 1333-9
  • PN Robinson (2012)
    Deep phenotyping for precision medicine.
    Hum Mutat., 33 (5): 777-80
  • CK Chen et al. (2012)
    MouseFinder: candidate disease genes from mouse phenotype data.
    Hum Mutat., 33 (5): 858-66
  • MD Thompson et al. (2012)
    Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
    Am J Med Genet A., 158A (3): 553-8
  • S Sheikhzadeh et al. (2012)
    A simple clinical model to estimate the probability of Marfan syndrome.
    QJM, 105 (6): 527-35
  • Y Murakami et al. (2012)
    Mechanisms for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency
    in patients with hyperphosphatasia-mental retardation syndrome.
    J Biol Chem., 287 (9): 6318-25
  • J Huang et al. (2011)
    Minimum information about a genotyping experiment (MIGEN).
    Stand Genomic Sci., 5, (2): 224-9
  • V Heinrich et al. (2011)
    The allele distribution in next-generation-sequencing data sets is accurately described as the result of a stochastic branching process.
    Nucleic Acids Res. 40 (6): 2426-31
  • MH Schulz, S Kohler, S Bauer, PN Robinson (2011)
    Exact score distribution computation for ontological similarity searches.
    BMC Bioinformatics, 12 (1): 441
  • S Kohler, S Bauer, CJ Mungall, G Carletti, CL Smith, P Schofield, GV Gkoutos, PN Robinson (2011)
    Improving ontologies by automatic reasoning and evaluation of logical definitions.
    BMC Bioinformatics, 12 (1): 418
  • Sheikhzadeh et al. (2012)
    Analysis of phenotype and genotype information for the diagnosis of Marfan Syndrome.
    Clin Genet. 82 (3): 240-7
  • Aydin et al. (2011)
    Ascending aortic aneurysm and aortic valve dysfunction in bicuspid aortic valve disease.
    Int J Cardiol., [epub ahead of print]
  • G Guo, P Gehle, S Doelken, JL Martin-Ventura, Y von Kodolitsch, R Hetzer, PN Robinson (2011)
    Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein.
    PLoS One, 6 (5): e20138
  • D Horn, PN Robinson (2011)
    Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
    Am J Med Genet A., 155 (4): 721-4
  • PN Robinson, P Krawitz, S Mundlos (2011)
    Strategies for exome and genome sequence data analysis in disease-gene discovery projects.
    Clin Genet., 80 (2): 127-32
  • S Bauer, PN Robinson, J Gagneur (2011)
    Model-based gene set analysis for Bioconductor.
    Bioinformatics, 27 (13): 1882-3
  • L Faivre et al. (2011)
    The new Ghent criteria for Marfan syndrome: What do they change?
    Clin Genet., 81 (5): 433-42
  • A Lindblom, PN Robinson (2011)
    Bioinformatics for human genetics: promises and challenges.
    Hum Mutat., 32 (5): 495-500
  • N Kossler et al. (2011)
    Neurofibromin (Nf1) is required for skeletal muscle development.
    Hum Mol Genet., 20 (14): 2697-709
  • M Jager et al. (2011)
    Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing.
    BMC Genomics, 12 (1): 158
  • C Rödelsperger et al. (2011)
    Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.
    Bioinformatics, 27 (6): 829-36
  • CE Ott et al. (2011)
    MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites.
    PLoS One 6 (1):e16250
  • A Aydin et al. (2011)
    Central pulse pressure and augmentation index in asymptomatic bicuspid aortic valve disease.
    Int J Cardiol., 147 (3): 466-8
  • M Rybcynski et al. (2011)
    Predictors of outcome of mitral valve prolapse in patients with the marfan syndrome.
    Am J Cardiol. 107(2):268-74
  • PN Robinson (2010)
    Whole-exome sequencing for finding de novo mutations in sporadic mental retardation.
    Genome Biol 11(12):144
  • C Rödelsperger, G Guo, M Kolanczyk, A Pletschacher, S Köhler, S Bauer, MH Schulz, PN Robinson (2011)
    Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions.
    Nucleic Acids Res., 39 (7): 2492-502
  • D Horbelt, G Guo, PN Robinson, P Knaus (2010)
    Quantitative analysis of TGFBR2 mutations in Marfan-syndrom-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.
    J Cell Sci. 123(Pt 24): 4340-50
  • LM Graul-Neumann et al. (2010)
    Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
    Am J Med Genet A., 152A(11):2749-55
  • M Rybczynski et al. (2010)
    Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome.
    Am J Cardiol. 106(7):1048-53
  • PM Krawitz et al. (2010)
    Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
    Nat Genet. 42(10):827-9
  • S Sheikhzadeh et al. (2010)
    Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.
    Clin Genet., 79 (6): 568-74
  • PN Robinson, S Mundlos (2010)
    The Human Phenotype Ontology.
    Clin Genet 77:525-34
  • D Détaint et al. (2010)
    Cardiovascular manifestations in men and women carrying a FBN1 mutation.
    Eur Heart J. 31(18):223-9
  • M Rybczynski et al. (2010)
    Frequency of sleep apnea in adults with the Marfan syndrome.
    Am J Cardiol. 105(12):1836-41
  • K Mortensen et al. (2010)
    Augmentation index and the evolution of aortic disease in marfan-like syndromes.
    Am J Hypertens. 23(7):716-24
  • S Dölken, S Köhler, S Bauer, CE Ott, P Krawitz, D Horn, S Mundlos and PN Robinson (2010)
    Computational methods for the study of human disease manifestations. The Human Phenotype Ontology.
    Medizinische Genetik
  • S Bauer, J Gagneur and PN Robinson (2010)
    GOing Bayesian: model-based gene set analysis of genome-scale data.
    Nucleic Acids Res. 38(11):3523-32
  • P Krawitz, C Rödelsperger, M Jäger, L Jostins, S Bauer, PN Robinson (2010)
    Microindel detection in short-read sequence data.
    Bioinformatics 26(6):722-9
  • S Köhler, MH Schulz, P Krawitz, S Bauer, S Dölken, CE Ott, C Mundlos, D Horn, S Mundlos, PN Robinson (2009)
    Clinical diagnostics in human genetics with semantic similarity searches in ontologies.
    Am J Hum Genet. 85(4):457-64
  • C Rödelsperger, S Köhler, MH Schulz, T Manke, S Bauer, PN Robinson (2009)
    Short Ultraconserved Promoter Regions Deliniate a Class of Preferentially Expressed Alternatively Spliced Transcripts.
    Genomics 94:308-316
  • Schulz MH, Köhler S, Bauer S, Vingron M, Robinson PN
    Exact Score Distribution Computation for Similarity Searches in Ontologies.
    WABI 2009, LNBI 5724, pp. 298-309, 2009
  • Gkoutos GV, Mungall C, Dölken S, Ashburner M, Lewis S, Hancock J, Schofield P, Köhler S, and Robinson PN
    Entity/Quality-Based Logical Definitions for the Human Skeletal Phenome using PATO
    Proceedings of the 31st Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC)
  • Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, Kuss A, Humphrey N, Mundlos S, Robinson PN (2009)
    CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait.
    PLoS Genet. 5:e1000487
  • Ott CE, Bauer S, Manke T, Ahrens S, Rödelsperger C, Grünhagen J, Kornak U, Duda G, Mundlos S, Robinson PN (2009)
    Promiscuous and Depolarization-Induced Immediate-Early Response Genes are Induced by Mechanical Strain of Osteoblasts.
    J Bone Miner Res. 24:1247-60
  • Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S. (2008)
    The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease.
    The American Journal of Human Genetics 83:610-615
  • Bauer S, Grossmann S, Vingron M, Robinson PN. (2008)
    Ontologizer 2.0 - A Multifunctional Tool for GO Term Enrichment Analysis and Data Exploration.
    Bioinformatics 24(14):1650-1
  • Köhler S*, Bauer S*, Horn D, Robinson PN (2008)
    Walking the Interactome for Prioritization of Candidate Disease Genes.
    The American Journal of Human Genetics 82:949-958
    * both authors contributed equally
  • Schulz MH*, Bauer S*, Robinson PN (2008)
    The Generalized k-Truncated Suffix Tree for Time- and Space-Efficient Searches in Multiple DNA or Protein Sequences.
    International Journal of Bioinformatics Research and Applications (IJBRA)4:81-95
    * both authors contributed equally
  • Guo G, Bauer S, Hecht J, Schulz MH, Busche A, Robinson PN (2008)
    A short ultraconserved sequence drives transcription from an alternate FBN1 promoter.
    Int J Biochem Cell Biol. 40(4):638-50
  • Grossmann S, Bauer S, Robinson PN, Vingron M (2007)
    Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis.
    Bioinformatics 23:3024
  • Hecht J, Seitz V, Urban M, Wagner F, Robinson PN, Stiege A, Dieterich C, Kornak U, Wilkening U, Brieske N, Zwingman C, Kidess A, Stricker S, Mundlos S (2007)
    Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model.
    Gene Expr Patterns 7:102-12
  • J Hecht, H Kuhl, SA Haas, S Bauer, AJ Poustka, J Lienau, H Schell, AC Stiege, V Seitz, R Reinhardt, GN Duda, S Mundlos, PN Robinson (2006)
    Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep.
    BMC Genomics 7:172
  • Beattie BJ, Robinson PN (2006)
    Binary State Pattern Clustering: A Digital Paradigm for Class and Biomarker Discovery.
    J Comp Biol. 13:1114-30
  • Vanita V, Singh D, Robinson PN, Sperling K, Singh JR (2006)
    A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.
    Am J Med Genet A. 140(6):558-66
  • Wenzel K, Carl M, Perrot A, Zabojszcza J, Assadi M, Ebeling M, Geier C, Robinson PN, Kress W, Osterziel KJ, Spuler S (2006)
    Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding
    Hum Mutat 27:599-600
  • Booms P, Ney A, Barthel F, Moroy G, Counsell D, Gille C, Guo G, Pregla R, Mundlos S, Alix AJ, Robinson PN (2006)
    A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis.
    J Mol Cell Cardiol 40:234-46
  • Gille C, Robinson PN (2006)
    HotSwap for bioinformatics: a STRAP tutorial.
    BMC Bioinformatics 7:64
  • Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S (2004)
    A molecular pathogenesis for transcription factor associated poly-alanine tractexpansions.
    Hum Mol Genet 13:2351-9
  • Robinson PN, Böhme U, Lopez R, Mundlos S, Nürnberg P (2004)
    Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis.
    Hum Mol Genet 13:1969-78
  • Robinson PN, Wollstein A, Böhme U, Beattie B (2004)
    Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology.
    Bioinformatics 20:979-81
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