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1. Marfan syndrome
: a primer for clinicians and scientists
by Robinson, Peter N. 1963- (Peter Nicholas) and Godfrey, Maurice
2004, Medical intelligence unit, ISBN 030648238X, 218
Marfan syndrome
Book
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2. Computational exome and genome analysis
by Robinson, Peter N and Piro, Rosario M and Jäger, Marten
01/2017, ISBN 9781498775984
Book
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3. Full Text Once doesn't count: Phenotype‐driven gene hunting in cohorts
by Robinson, Peter N
Human Mutation, ISSN 1059-7794, 05/2017, Volume 38, Issue 5, pp. 469 - 469
Index Medicus
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4. Full Text A Tribute to Peter N. T. Wells, Emeritus Editor of Ultrasound in Medicine and Biology
by (Jack) Reid, John M
Ultrasound in Medicine & Biology, ISSN 0301-5629, 2007, Volume 33, Issue 10, pp. 1676 - 1678
Radiology | ACOUSTICS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Publishing | Research | History, 21st Century | History, 20th Century | Ultrasonics
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5. Full Text Introduction to Bio-Ontologies
by Bauer, Sebastian and Robinson, Peter N
06/2011, 1, Chapman & Hall/CRC Mathematical and Computational Biology, ISBN 1466548061, 517
Introduction to Bio-Ontologies explores the computational background of ontologies. Emphasizing computational and algorithmic issues surrounding... 
Bioinformatics | Biochemical Engineering | Data Preparation & Mining | Ontologies (Information retrieval) | Math & Science | Linked Data
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6. Full Text MP19-03 DISCREPANCIES AMONG GENOMIC & HISTOLOGIC PHENOTYPING OF NON-OBSTRUCTIVE AZOOSPERMIA
by Flannigan, Ryan and Khan, Francesca and Robinson, Brian and Hayden, Russell and Mielnik, Anna and Bolyakov, Alexander and Schlegel, Peter N and Paduch, Darius
The Journal of Urology, ISSN 0022-5347, 04/2018, Volume 199, Issue 4, pp. e244 - e245
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7. Full Text Genetische Diagnostik seltener Erkrankungen
by Sebastian Köhler and Peter N. Robinson
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, ISSN 1436-9990, 01/2017, Volume 60, Issue 5, pp. 542 - 549
Eine Herausforderung für die genomische personalisierte Medizin wird es sein, verlässliche Methoden zur Erfassung und Ähnlichkeitsberechnung von klinischen... 
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8. Full Text Correction to: An ontological foundation for ocular phenotypes and rare eye diseases
by Sergouniotis, Panagiotis I and Maxime, Emmanuel and Leroux, Dorothée and Olry, Annie and Thompson, Rachel and Rath, Ana and Robinson, Peter N and Dollfus, Hélène and ERN-EYE Ontology Study Group
Orphanet journal of rare diseases, ISSN 1750-1172, 08/2019, Volume 14, Issue 1, pp. 200 - 200
Professor Michael Larsen, who is a member of the ERN-EYE Ontology Study Group and co-chair of Workgroup on Retinal Rare Eye Diseases (WG1), was inadvertently... 
Eye diseases | Genetic aspects | Index Medicus
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9. Full Text Genetische Diagnostik seltener Erkrankungen: Integration von Phänotyp- und Genomdaten
by Köhler, Sebastian and Robinson, Peter N
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, ISSN 1436-9990, 05/2017, Volume 60, Issue 5, pp. 542 - 549
Phenotype | Translational research | Differential diagnosis | Ontology | Whole-exome sequencing
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10. Full Text Phenotype Ontologies and Cross-Species Analysis for Translational Research
: e1004268
by Peter N Robinson and Caleb Webber
PLoS Genetics, ISSN 1553-7390, 04/2014, Volume 10, Issue 4
  The use of model organisms as tools for the investigation of human genetic variation has significantly and rapidly advanced our understanding of the... 
Studies | Genetic disorders | Disease | Genes | Genomes | Organisms | Mutation | Family medical history
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11. Full Text MP60-20 WITH-IN GROUP & BETWEEN GROUP DIFFERENCES OF SPERMATOGONIAL MARKERS AMONG MEN WITH NON-OBSTRUCTIVE AZOOSPERMIA
by Flannigan, Ryan and Khan, Francesca and Mielnik, Anna and Robinson, Brian and Hayden, Russell and Bolyakov, Alexander and Schlegel, Peter N and Paduch, Darius
The Journal of Urology, ISSN 0022-5347, 04/2018, Volume 199, Issue 4, pp. e797 - e797
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12. Full Text MP60-14 DYSREGULATION OF RNA SEQUESTRATION BY YBX2 IS A NOVEL MECHANISM OF MATURATION ARREST AMONG MEN WITH NON-OBSTRUCTIVE AZOOSPERMIA
by Flannigan, Ryan and Khan, Francesca and Robinson, Brian and Hayden, Russell and Mielnik, Anna and Bolyakov, Alexander and Schlegel, Peter N and Paduch, Darius
The Journal of Urology, ISSN 0022-5347, 04/2018, Volume 199, Issue 4, pp. e795 - e795
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13. Full Text A Systematic Large‐scale Phenotypic Analysis of de novo and Inherited Copy Number Variation
by Robinson, Peter N
Human Mutation, ISSN 1059-7794, 12/2013, Volume 34, Issue 12, pp. v - v
Copy number variation (CNV) is a major cause of structural genome variation. By a common definition, a CNV represents a structural variant that may range in... 
Female | Male | Genetic Association Studies | Humans | DNA Copy Number Variations | GENETICS & HEREDITY | Index Medicus
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14. Full Text Diagnostics in human genetics; Integration of phenotypic and genomic data/Genetische Diagnostik seltener Erkrankungen; Integration von Phanotyp- und Genomdaten
by Kohler, Sebastian and Robinson, Peter N
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, ISSN 1436-9990, 05/2017, Volume 60, Issue 5, p. 542
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s00103-017-2538-5 Eine... 
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15. Full Text The Genomic Birthday Paradox: How Much Is Enough?
: HUMAN MUTATION
by Krawitz, Peter and Buske, Orion and Zhu, Na and Brudno, Michael and Robinson, Peter N
Human Mutation, ISSN 1059-7794, 10/2015, Volume 36, Issue 10, pp. 989 - 997
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16. Full Text MiR-497195 Cluster MicroRNAs Regulate Osteoblast Differentiation by Targeting BMP Signaling
by Johannes Grunhagen and Raghu Bhushan and Elisa Degenkolbe and Marten Jager and Petra Knaus and Stefan Mundlos and Peter N Robinson and Claus-Eric Ott
Journal of Bone and Mineral Research, ISSN 0884-0431, 05/2015, Volume 30, Issue 5, pp. 796 - 808
  MicroRNAs play important roles during cell reprogramming and differentiation. In this study, we identified the miR-497195 cluster, a member of the miR-15... 
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17. Full Text A systematic, large-scale comparison of transcription factor binding site models
by Hombach, Daniela and Schwarz, Jana Marie and Robinson, Peter N and Schuelke, Markus and Seelow, Dominik
BMC genomics, 05/2016, Volume 17, p. 388
The modelling of gene regulation is a major challenge in biomedical research. This process is dominated by transcription factors (TFs) and mutations in their... 
Transcription Factors - metabolism | Transcription Factors - chemistry | Computational Biology | Polymorphism, Single Nucleotide | Mutation | Transcription Factors - genetics | Binding Sites
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18. Full Text Phenolyzer: Phenotype-based prioritization of candidate genes for human diseases
by Yang, Hui and Robinson, Peter N and Wang, Kai
Nature Methods, ISSN 1548-7091, 08/2015, Volume 12, Issue 9, pp. 841 - 843
Prior biological knowledge and phenotype information may help to identify disease genes from human whole-genome and whole-exome sequencing studies. We... 
DATABASE | VARIANTS | ANNOTATION | BIOCHEMICAL RESEARCH METHODS | PERSONAL GENOMES | ONTOLOGY | MUTATIONS | IDENTIFICATION | ASSOCIATION | DISCOVERY | SEMANTIC SIMILARITY | Genetic Predisposition to Disease - genetics | Humans | Genetic Diseases, Inborn - genetics | Databases, Genetic | Molecular Sequence Data | Genome, Human - genetics | Exome - genetics | Phenotype | Algorithms | Base Sequence | Chromosome Mapping - methods | Genetic Markers - genetics | Software | Sequence Analysis, DNA - methods | Data Mining - methods | Medical research | Genomics | Medicine, Experimental | Genetic aspects | Research | Methods | Diseases | Studies | Genotype & phenotype | Genomes | Disease | Genes | Index Medicus
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19. Full Text 8. Genetic basis of Mabry's syndrome
by Thompson, Miles D and Roscioli, Tony and Hwang, Paul A and Robinson, Peter N and Andrade, Danielle M and Krawitz, Peter
Clinical Neurophysiology, ISSN 1388-2457, 05/2014, Volume 125, Issue 5, p. e12
We review the discovery of two genes disrupted in Mabry syndrome (hyperphosphatasia with developmental disability; OMIM#239300): a syndrome notable for... 
Genetic research | Genetic aspects
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20. Full Text 8. Genetic basis of Mabry’s syndrome
by Thompson, Miles D and Roscioli, Tony and Hwang, Paul A and Robinson, Peter N and Andrade, Danielle M and Krawitz, Peter
Clinical Neurophysiology, ISSN 1388-2457, 2013, Volume 125, Issue 5, pp. e12 - e12
We review the discovery of two genes disrupted in Mabry syndrome (hyperphosphatasia with developmental disability; OMIM#239300): a syndrome notable for... 
Neurology
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