Whole-exome sequencing for finding de novo mutations in sporadic mental retardation

Por Robinson, Peter N
Publicado em 2010

Classification and coding of rare diseases: overview of where we stand, rationale, why it matters and what it can change

Por Robinson, Peter N
Publicado em 2012

Genomic data sharing for translational research and diagnostics

Por Robinson, Peter N
Publicado no Genome Med (2014)

HotSwap for bioinformatics: A STRAP tutorial

Por Robinson Peter N, Gille Christoph
Publicado em 2006-02-01

HotSwap for bioinformatics: A STRAP tutorial

Por Gille, Christoph, Robinson, Peter N
Publicado em 2006

Phenotype Ontologies and Cross-Species Analysis for Translational Research

Por Robinson, Peter N., Webber, Caleb
Publicado em 2014

Phenotype-driven strategies for exome prioritization of human Mendelian disease genes

Por Smedley, Damian, Robinson, Peter N.
Publicado no Genome Med (2015)

Marfan syndrome: an update of genetics, medical and surgical management

Por von Kodolitsch, Yskert, Robinson, Peter N
Publicado em 2007

GOing Bayesian: model-based gene set analysis of genome-scale data

Por Bauer, Sebastian, Gagneur, Julien, Robinson, Peter N.
Publicado em 2010

Model-based gene set analysis for Bioconductor

Por Bauer, Sebastian, Robinson, Peter N., Gagneur, Julien
Publicado em 2011

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

Por Yang, Hui, Robinson, Peter N, Wang, Kai
Publicado no Nat Methods (2015)

Capturing phenotypes for precision medicine

Por Robinson, Peter N., Mungall, Christopher J., Haendel, Melissa
Publicado no Cold Spring Harb Mol Case Stud (2015)

Walking the Interactome for Prioritization of Candidate Disease Genes

Por Köhler, Sebastian, Bauer, Sebastian, Horn, Denise, Robinson, Peter N.
Publicado em 2008

Capturing domain knowledge from multiple sources: the rare bone disorders use case

Por Groza, Tudor, Tudorache, Tania, Robinson, Peter N, Zankl, Andreas
Publicado no J Biomed Semantics (2015)

Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy

Por Passarge, Eberhard, Robinson, Peter N, Graul-Neumann, Luitgard M
Publicado no Eur J Hum Genet (2016)

Exact score distribution computation for ontological similarity searches

Por Schulz, Marcel H, Köhler, Sebastian, Bauer, Sebastian, Robinson, Peter N
Publicado em 2011

Bayesian ontology querying for accurate and noise-tolerant semantic searches

Por Bauer, Sebastian, Köhler, Sebastian, Schulz, Marcel H., Robinson, Peter N.
Publicado em 2012

A systematic, large-scale comparison of transcription factor binding site models

Por Hombach, Daniela, Schwarz, Jana Marie, Robinson, Peter N., Schuelke, Markus, Seelow, Dominik
Publicado no BMC Genomics (2016)

Erratum to: A systematic, large-scale comparison of transcription factor binding site models

Por Hombach, Daniela, Schwarz, Jana Marie, Robinson, Peter N., Schuelke, Markus, Seelow, Dominik
Publicado no BMC Genomics (2016)

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

Por Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan
Publicado em 2008