User profiles for P. N. Robinson

Peter Robinson

Berlin Institute of Health, Charité - Universitätsmedizin, Berlin, Germany
Verified email at bih-charite.de
Cited by 31849

The human phenotype ontology in 2017

…, CJ Mungall, M Haendel, PN Robinson - Nucleic acids …, 2017 - academic.oup.com
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 …

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 …

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 …

[PDF][PDF] The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

PN Robinson, S Köhler, S Bauer, D Seelow… - The American Journal of …, 2008 - cell.com
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 …

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

…, D Smedley, SE Lewis, PN Robinson - Nucleic acids …, 2014 - academic.oup.com
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 (…

[PDF][PDF] Walking the interactome for prioritization of candidate disease genes

S Köhler, S Bauer, D Horn, PN Robinson - The American Journal of Human …, 2008 - cell.com
… 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 …

The human phenotype ontology in 2021

…, CJ Mungall, MA Haendel, PN Robinson - Nucleic acids …, 2021 - academic.oup.com
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 …

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 …

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

…, MA Haendel, C Mungall, PN Robinson - Nucleic acids …, 2019 - academic.oup.com
The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers, clinicians, …

The National COVID Cohort Collaborative (N3C): rationale, design, infrastructure, and deployment

…, PRO Payne, ER Pfaff, PN Robinson… - Journal of the …, 2021 - academic.oup.com
Objective Coronavirus disease 2019 (COVID-19) poses societal challenges that require
expeditious data and knowledge sharing. Though organizational clinical data are abundant, …