The Human Phenotype Ontology in 2021

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

(2020) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes

(2020) Willie H. Chang et al.   GENETICS IN MEDICINE

An ontology-based classification of Ebstein's anomaly and its implications in clinical adverse outcomes

(2020) Xia Tang et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

(2020) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

(2020) Peter D. Galer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project

(2020) Edison Ong et al.   Nature Reviews Nephrology

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

(2019) Markus G. Seidel et al.   Journal of Allergy and Clinical Immunology-In Practice

Xenbase: Facilitating the Use of Xenopus to Model Human Disease

(2019) Mardi J. Nenni et al.   Frontiers in Physiology

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

(2019) Ingo Helbig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrating Next-Generation Sequencing in the Clinical Pharmacogenomics Workflow

(2019) Efstathia Giannopoulou et al.   Frontiers in Pharmacology

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

(2019) Rachel Thompson et al.   HUMAN MUTATION

PathoPhenoDB, linking human pathogens to their phenotypes in support of infectious disease research

(2019) Şenay Kafkas et al.   Scientific Data

Data-driven method to enhance craniofacial and oral phenotype vocabularies

(2019) Rashmi Mishra et al.   JOURNAL OF THE AMERICAN DENTAL ASSOCIATION

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

(2019) Kent A Shefchek et al.   NUCLEIC ACIDS RESEARCH

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes

(2018) Jung Hoon Son et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Foundation of the Newborn Screening Translational Research Network and its tools for research

(2018) Michele Lloyd-Puryear et al.   GENETICS IN MEDICINE

Identifying facial phenotypes of genetic disorders using deep learning

(2018) Yaron Gurovich et al.   NATURE MEDICINE

Classification, Ontology, and Precision Medicine

(2018) Melissa A. Haendel et al.   NEW ENGLAND JOURNAL OF MEDICINE

OMIM.org: leveraging knowledge across phenotype–gene relationships

(2018) Joanna S Amberger et al.   NUCLEIC ACIDS RESEARCH

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

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology

(2017) Robert S. Fisher et al.   EPILEPSIA

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

International management platform for children’s interstitial lung disease (chILD-EU)

(2017) Matthias Griese et al.   THORAX

Dead simple OWL design patterns

(2017) David Osumi-Sutherland et al.   Journal of Biomedical Semantics

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Interoperability between phenotypes in research and healthcare terminologies—Investigating partial mappings between HPO and SNOMED CT

(2016) Ferdinand Dhombres et al.   Journal of Biomedical Semantics

A definition and classification of status epilepticus - Report of the ILAE Task Force on Classification of Status Epilepticus

(2015) Eugen Trinka et al.   EPILEPSIA

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

(2015) Orion J. Buske et al.   HUMAN MUTATION

Feasibility and utility of applications of the common data model to multiple, disparate observational health databases

(2015) Erica A Voss et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Next-generation diagnostics and disease-gene discovery with the Exomiser

(2015) Damian Smedley et al.   Nature Protocols

Categorizing diffuse parenchymal lung disease in children

(2015) Matthias Griese et al.   Orphanet Journal of Rare Diseases

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

(2014) Marc V. Singleton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phen-Gen: combining phenotype and genotype to analyze rare disorders

(2014) Asif Javed et al.   NATURE METHODS

Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon

(2014) Melissa A Haendel et al.   Journal of Biomedical Semantics

eXtasy: variant prioritization by genomic data fusion

(2013) Alejandro Sifrim et al.   NATURE METHODS

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

(2013) Eugene Bragin et al.   NUCLEIC ACIDS RESEARCH

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

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

The Drosophila phenotype ontology

(2013) David Osumi-Sutherland et al.   Journal of Biomedical Semantics

The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data

(2012) Cynthia L. Smith et al.   MAMMALIAN GENOME

Worm Phenotype Ontology: Integrating phenotype data within and beyond the C. elegans community

(2011) Gary Schindelman et al.   BMC BIOINFORMATICS

Serving the enterprise and beyond with informatics for integrating biology and the bedside (i2b2)

(2010) S. N. Murphy et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

ZFIN: enhancements and updates to the zebrafish model organism database

(2010) Y. Bradford et al.   NUCLEIC ACIDS RESEARCH

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Febrile Seizures: Clinical Practice Guideline for the Long-term Management of the Child With Simple Febrile Seizures

(2008)   PEDIATRICS