User profiles for P. N. Robinson
Peter RobinsonBerlin Institute of Health, Charité - Universitätsmedizin, Berlin, Germany Verified email at bih-charite.de Cited by 31849 |
The human phenotype ontology in 2017
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic
abnormalities in which the individual components of the phenotype are observed and …
abnormalities in which the individual components of the phenotype are observed and …
Deep phenotyping for precision medicine
PN Robinson - Human mutation, 2012 - Wiley Online Library
In medical contexts, the word “phenotype” is used to refer to some deviation from normal
morphology, physiology, or behavior. The analysis of phenotype plays a key role in clinical …
morphology, physiology, or behavior. The analysis of phenotype plays a key role in clinical …
The molecular genetics of Marfan syndrome and related disorders
PN Robinson, E Arteaga-Solis, C Baldock… - Journal of medical …, 2006 - jmg.bmj.com
… PN Robinson1, … -1 fragment, indicating involvement of EBP in mediating the effects (Gao
and Robinson, under review). Additionally, investigation of macrophages in aortic specimens of …
and Robinson, under review). Additionally, investigation of macrophages in aortic specimens of …
[PDF][PDF] The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease
There are many thousands of hereditary diseases in humans, each of which has a specific
combination of phenotypic features, but computational analysis of phenotypic data has been …
combination of phenotypic features, but computational analysis of phenotypic data has been …
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org
, provides a structured, comprehensive and well-defined set of 10,088 classes (…
, provides a structured, comprehensive and well-defined set of 10,088 classes (…
[PDF][PDF] Walking the interactome for prioritization of candidate disease genes
… Candidate genes were ranked according to the values in the steady-state probability vector
pN. This was obtained at query time by performing the iteration until the change between pt …
pN. This was obtained at query time by performing the iteration until the change between pt …
The human phenotype ontology in 2021
The Human Phenotype Ontology (HPO, https://hpo.jax.org ) was launched in 2008 to provide
a comprehensive logical standard to describe and computationally analyze phenotypic …
a comprehensive logical standard to describe and computationally analyze phenotypic …
Ontologizer 2.0—a multifunctional tool for GO term enrichment analysis and data exploration
…, S Grossmann, M Vingron, PN Robinson - Bioinformatics, 2008 - academic.oup.com
The Ontologizer is a Java application that can be used to perform statistical analysis for
overrepresentation of Gene Ontology (GO) terms in sets of genes or proteins derived from an …
overrepresentation of Gene Ontology (GO) terms in sets of genes or proteins derived from an …
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers, clinicians, …
abnormalities associated with 7000+ diseases—is used by thousands of researchers, clinicians, …
The National COVID Cohort Collaborative (N3C): rationale, design, infrastructure, and deployment
Objective Coronavirus disease 2019 (COVID-19) poses societal challenges that require
expeditious data and knowledge sharing. Though organizational clinical data are abundant, …
expeditious data and knowledge sharing. Though organizational clinical data are abundant, …