(Q28584446)

1

0 references

Peter Robinson

25

Peter N Robinson

0 references

Melissa Haendel

26

Melissa A Haendel

0 references

Tudor Groza

23

Tudor Groza

0 references

Damian Smedley

24

Damian Smedley

0 references

Julie A. McMurry

Julie A McMurry

2

0 references

Charles Borromeo

Charles Borromeo

5

0 references

Seth J. Carbon

Seth Carbon

7

0 references

James P. Balhoff

James P Balhoff

4

0 references

Nicole Vasilevsky

Nicole Vasilevsky

19

0 references

Suzanna Lewis

16

Suzanna E Lewis

0 references

Erin D. Foster

Erin Foster

11

0 references

Nicole L Washington

Nicole Washington

21

0 references

Matthew Brush

6

Matthew Brush

0 references

Kent A Shefchek

18

Kent Shefchek

0 references

Nathan Dunn

9

Nathan Dunn

0 references

Jules Jacobsen

1 reference

ORCID Public Data File 2021

Sebastian Köhler

3

Sebastian Köhler

0 references

Tom Conlin

8

Tom Conlin

0 references

author name string

Mark Engelstad

10

0 references

J P Gourdine

12

0 references

Julius O B Jacobsen

13

0 references

Dan Keith

14

0 references

Bryan Laraway

15

0 references

Jeremy NguyenXuan

17

0 references

Zhou Yuan

20

0 references

Harry Hochheiser

Creative Commons Attribution 4.0 International

22

0 references

language of work or name

English

0 references

publication date

4 January 2017

0 references

published in

Nucleic Acids Research

0 references

volume

45

0 references

issue

D1

0 references

page(s)

D712-D722

0 references

copyright license

start time

30 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

High-performance web services for querying gene and variant annotation

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

The Ontology for Biomedical Investigations

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

ClinVar: public archive of interpretations of clinically relevant variants

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

WormBase 2016: expanding to enable helminth genomic research

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Mouse Genome Informatics (MGI): reflecting on 25 years

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

ClinGen--the Clinical Genome Resource

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

KaBOB: ontology-based semantic integration of biomedical databases

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

The BioGRID interaction database: 2015 update

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Standardized description of scientific evidence using the Evidence Ontology (ECO)

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Data, information, knowledge and principle: back to metabolism in KEGG

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Improved exome prioritization of disease genes through cross-species phenotype comparison

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Prediction of gene-phenotype associations in humans, mice, and plants using phenologs

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Systematic discovery of nonobvious human disease models through orthologous phenotypes

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Integrating phenotype ontologies across multiple species

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Linking human diseases to animal models using ontology-based phenotype annotation

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Relations in biomedical ontologies

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

The Comparative Toxicogenomics Database: update 2017

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Gene Ontology Consortium: going forward

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

GeneNetwork: A Toolbox for Systems Genetics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Navigating the Phenotype Frontier: The Monarch Initiative

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

FALDO: a semantic standard for describing the location of nucleotide and protein feature annotation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

PANTHER version 10: expanded protein families and functions, and analysis tools.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Hymenoptera Genome Database: integrating genome annotations in HymenopteraMine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

FlyBase: establishing a Gene Group resource for Drosophila melanogaster

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Use of model organism and disease databases to support matchmaking for human disease gene discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Mouse anatomy ontologies: enhancements and tools for exploring and integrating biomedical data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Allele, phenotype and disease data at Mouse Genome Informatics: improving access and analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Cross-organism analysis using InterMine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

ZFIN, The zebrafish model organism database: Updates and new directions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Expanding the mammalian phenotype ontology to support automated exchange of high throughput mouse phenotyping data generated by large-scale mouse knockout screens

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Automatic concept recognition using the human phenotype ontology reference and test suite corpora

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

InterMine: extensive web services for modern biology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

PhenoDigm: analyzing curated annotations to associate animal models with human diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

PhenoTips: patient phenotyping software for clinical and research use.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

The mouse-human anatomy ontology mapping project

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

D³: Data-Driven Documents

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Phenomics: the next challenge

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Evolution of the Sequence Ontology terms and relationships

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210586

Maneuvering in the complex path from genotype to phenotype

29 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FNAR%2FGKW1128

21 January 2018

Mouse phenome database.

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FNAR%2FGKW1128

k-BOOM: A Bayesian approach to ontology structure inference, with applications in disease ontology construction

21 January 2018

1 reference

27 May 2022

https://opencitations.net/index/coci/api/v1/references/10.1093/NAR/GKW1128

Identifiers

DOI

10.1093/NAR/GKW1128

0 references

DBLP publication ID

journals/nar/MungallM0BBBCCD17

1 reference

DBLP Dataset 2021-01-02

release_tbsgmbgu4vfmpiwwsenemxj2cm

28 January 2021

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tbsgmbgu4vfmpiwwsenemxj2cm