Showing 1 - 20 results of 35 for search 'Peter N. Robinson', query time: 0.05s Refine Results
  1. 1
    Biometric and structural ocular manifestations of Marfan syndrome.

    Biometric and structural ocular manifestations of Marfan syndrome. by Petra Gehle, Barbara Goergen, Daniel Pilger, Peter Ruokonen, Peter N Robinson, Daniel J Salchow

    Published 2017-01-01
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  2. 2
    Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach

    Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach by Ewelina M. Olech, Tomasz Zemojtel, Anna Sowińska-Seidler, Peter N. Robinson, Stefan Mundlos, Marek Karczewski, Aleksander Jamsheer

    Published 2016-05-01
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  3. 3
    HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis

    HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis by Guy Karlebach, Peter Hansen, Diogo FT Veiga, Robin Steinhaus, Daniel Danis, Sheng Li, Olga Anczukow, Peter N Robinson

    Published 2020-07-01
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  4. 4
    Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein.

    Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. by Gao Guo, Petra Gehle, Sandra Doelken, José Luis Martin-Ventura, Yskert von Kodolitsch, Roland Hetzer, Peter N Robinson

    Published 2011-01-01
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  5. 5
    Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.

    Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. by Tom Kamphans, Peggy Sabri, Na Zhu, Verena Heinrich, Stefan Mundlos, Peter N Robinson, Dmitri Parkhomchuk, Peter M Krawitz

    Published 2013-01-01
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  6. 6
    An evaluation of GPT models for phenotype concept recognition

    An evaluation of GPT models for phenotype concept recognition by Tudor Groza, Harry Caufield, Dylan Gration, Gareth Baynam, Melissa A. Haendel, Peter N. Robinson, Christopher J. Mungall, Justin T. Reese

    Published 2024-01-01
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  7. 7
    GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

    GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution by Peter Hansen, Salaheddine Ali, Hannah Blau, Daniel Danis, Jochen Hecht, Uwe Kornak, Darío G. Lupiáñez, Stefan Mundlos, Robin Steinhaus, Peter N. Robinson

    Published 2019-01-01
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  8. 8
    Investigation of heart proteome of different consomic mouse strains. Testing the effect of polymorphisms on the proteome-wide trans-variation of proteins

    Investigation of heart proteome of different consomic mouse strains. Testing the effect of polymorphisms on the proteome-wide trans-variation of proteins by Stefanie Forler, Oliver Klein, Sebastian Köhler, Peter N. Robinson, Henning Witt, Marc Sultan, Murat Eravci, Vera Regitz-Zagrosek, Hans Lehrach, Joachim Klose

    Published 2015-06-01
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  9. 9
    Correction to: An ontological foundation for ocular phenotypes and rare eye diseases

    Correction to: An ontological foundation for ocular phenotypes and rare eye diseases by Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group

    Published 2019-08-01
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  10. 10
    Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

    Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes by Leigh C. Carmody, Hannah Blau, Daniel Danis, Xingman A. Zhang, Jean-Philippe Gourdine, Nicole Vasilevsky, Peter Krawitz, Miles D. Thompson, Peter N. Robinson

    Published 2020-02-01
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  11. 11
    An ontological foundation for ocular phenotypes and rare eye diseases

    An ontological foundation for ocular phenotypes and rare eye diseases by Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group

    Published 2019-01-01
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  12. 12
    MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites.

    MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. by Claus Eric Ott, Johannes Grünhagen, Marten Jäger, Daniel Horbelt, Simon Schwill, Klaus Kallenbach, Gao Guo, Thomas Manke, Petra Knaus, Stefan Mundlos, Peter N Robinson

    Published 2011-01-01
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  13. 13
    Explainable Machine Learning for Early Assessment of COVID-19 Risk Prediction in Emergency Departments

    Explainable Machine Learning for Early Assessment of COVID-19 Risk Prediction in Emergency Departments by Elena Casiraghi, Dario Malchiodi, Gabriella Trucco, Marco Frasca, Luca Cappelletti, Tommaso Fontana, Alessandro Andrea Esposito, Emanuele Avola, Alessandro Jachetti, Justin Reese, Alessandro Rizzi, Peter N. Robinson, Giorgio Valentini

    Published 2020-01-01
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  14. 14
    The promises of large language models for protein design and modeling

    The promises of large language models for protein design and modeling by Giorgio Valentini, Giorgio Valentini, Dario Malchiodi, Jessica Gliozzo, Jessica Gliozzo, Marco Mesiti, Mauricio Soto-Gomez, Alberto Cabri, Justin Reese, Elena Casiraghi, Elena Casiraghi, Elena Casiraghi, Peter N. Robinson

    Published 2023-11-01
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  15. 15
    Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research [v1; ref status: indexed, http://f1000r.es/p5]

    Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research [v1; ref status: indexed, http://f1000r.es/p5] by Sebastian Köhler, Sandra C Doelken, Barbara J Ruef, Sebastian Bauer, Nicole Washington, Monte Westerfield, George Gkoutos, Paul Schofield, Damian Smedley, Suzanna E Lewis, Peter N Robinson, Christopher J Mungall

    Published 2013-02-01
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  16. 16
    Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research [v2; ref status: indexed, http://f1000r.es/2td]

    Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research [v2; ref status: indexed, http://f1000r.es/2td] by Sebastian Köhler, Sandra C Doelken, Barbara J Ruef, Sebastian Bauer, Nicole Washington, Monte Westerfield, George Gkoutos, Paul Schofield, Damian Smedley, Suzanna E Lewis, Peter N Robinson, Christopher J Mungall

    Published 2014-01-01
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  17. 17
    The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond

    The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond by Lauren E. Chan, Anne E. Thessen, William D. Duncan, Nicolas Matentzoglu, Charles Schmitt, Cynthia J. Grondin, Nicole Vasilevsky, Julie A. McMurry, Peter N. Robinson, Christopher J. Mungall, Melissa A. Haendel

    Published 2023-02-01
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  18. 18
    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data by Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Danis, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Julius O.B. Jacobsen, Damian Smedley

    Published 2020-04-01
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  19. 19
    AP-1 Oligodeoxynucleotides Reduce Aortic Elastolysis in a Murine Model of Marfan Syndrome

    AP-1 Oligodeoxynucleotides Reduce Aortic Elastolysis in a Murine Model of Marfan Syndrome by Rawa Arif, Marcin Zaradzki, Anca Remes, Philipp Seppelt, Reiner Kunze, Hannes Schröder, Simon Schwill, Stephan M. Ensminger, Peter N. Robinson, Matthias Karck, Oliver J. Müller, Markus Hecker, Andreas H. Wagner, Klaus Kallenbach

    Published 2017-12-01
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  20. 20
    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

    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 zebraf... by Sandra C. Doelken, Sebastian Köhler, Christopher J. Mungall, Georgios V. Gkoutos, Barbara J. Ruef, Cynthia Smith, Damian Smedley, Sebastian Bauer, Eva Klopocki, Paul N. Schofield, Monte Westerfield, Peter N. Robinson, Suzanna E. Lewis

    Published 2013-03-01
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