Phenotype ontologies and cross-species analysis for translational research.

by Peter N Robinson, Caleb Webber
Published 2014-04-01

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants

by Max Schubach, Matteo Re, Peter N. Robinson, Giorgio Valentini
Published 2017-06-01

Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods

by Marco Notaro, Max Schubach, Peter N. Robinson, Giorgio Valentini
Published 2017-10-01

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

Computational Processing and Quality Control of Hi-C, Capture Hi-C and Capture-C Data

by Peter Hansen, Michael Gargano, Jochen Hecht, Jonas Ibn-Salem, Guy Karlebach, Johannes T. Roehr, Peter N. Robinson
Published 2019-07-01

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

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

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

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

NT-proBNP and diastolic left ventricular function in patients with Marfan syndrome

by Petra Gehle, Peter N. Robinson, Frank Heinzel, Frank Edelmann, Mustafa Yigitbasi, Felix Berger, Volkmar Falk, Burkert Pieske, Ernst Wellnhofer
Published 2016-09-01

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

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.

by Seval Türkmen, Gao Guo, Masoud Garshasbi, Katrin Hoffmann, Amjad J Alshalah, Claudia Mischung, Andreas Kuss, Nicholas Humphrey, Stefan Mundlos, Peter N Robinson
Published 2009-05-01

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

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

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

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

Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF.

by Ivana Jerković, Daniel M Ibrahim, Guillaume Andrey, Stefan Haas, Peter Hansen, Catrin Janetzki, Irene González Navarrete, Peter N Robinson, Jochen Hecht, Stefan Mundlos
Published 2017-01-01

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

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

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