The Human Phenotype Ontology in 2017 (Q27927007)

Europe PubMed Central

25 November 2020

8 April 2021

The Human Phenotype Ontology in 2017 (English)

0 references

0 references

1 reference

25 November 2020

1 reference

8 April 2021

30

0 references

Melissa Haendel

58

0 references

Christopher J. Mungall

57

0 references

Ingo Helbig

24

0 references

Stephan Züchner

52

0 references

Tomasz Zemojtel

53

Tomasz Zemojtel

0 references

Peter Robinson

59

Peter N Robinson

0 references

Tudor Groza

55

Tudor Groza

0 references

Damian Smedley

56

Damian Smedley

0 references

Julie A. McMurry

5

Julie McMurry

0 references

Gareth Baynam

7

Gareth Baynam

0 references

Richard Sever

Richard Sever

41

0 references

Erin D. Foster

Erin Foster

4

0 references

Rachel Thompson

Rachel Thompson

44

0 references

Valentina Cipriani

Valentina Cipriani

14

0 references

Nicole Vasilevsky

Nicole A Vasilevsky

2

0 references

Ernest Turro

Ernest Turro

46

0 references

Roland Krause

Roland Krause

28

0 references

Kathleen Freson

Kathleen Freson

21

0 references

Ada Hamosh

23

Ada Hamosh

0 references

Kym M Boycott

10

Kym M Boycott

0 references

Volker Straub

43

Volker Straub

0 references

Ségolène Aymé

6

Ségolène Aymé

0 references

Michael Brudno

11

Michael Brudno

0 references

Willem H. Ouwehand

34

Willem H Ouwehand

0 references

Patrick F. Chinnery

13

Patrick F Chinnery

0 references

Helen V. Firth

20

Helen V Firth

0 references

Susan M Bello

8

Susan M Bello

0 references

Jules Jacobsen

1 reference

ORCID Public Data File 2021

Orion J Buske

12

Orion J Buske

0 references

Ana Rath

36

Ana Rath

0 references

Bert B A de Vries

19

Bert B A de Vries

0 references

author name string

Tom Vulliamy

48

0 references

Stanley J F Laulederkind

29

0 references

Soichi Ogishima

32

0 references

Sebastian Köhler

1

0 references

Roger James

27

0 references

Richard H Scott

38

0 references

Panagiotis I Sergouniotis

40

0 references

Nikolas Pontikos

35

0 references

Michael Segal

39

0 references

Mark Engelstad

3

0 references

Marijcke W M Veltman

47

0 references

Laureen E Connell

15

0 references

Laura E DeMare

17

0 references

Julius O B Jacobsen

54

0 references

Julie von Ziegenweidt

50

0 references

Johanna A Jähn

26

0 references

Jing Yu

49

0 references

Hugh J S Dawkins

16

0 references

Gholson J Lyon

31

0 references

Franz Schaefer

37

0 references

Daniel Greene

22

0 references

Cynthia L Smith

42

0 references

Courtney Hum

25

0 references

Cornelius F Boerkoel

9

0 references

Catherine Turner

45

0 references

Annie Olry

33

0 references

Andrew D Devereau

18

0 references

Andreas Zankl

Creative Commons Attribution-NonCommercial 4.0 International

51

0 references

language of work or name

English

0 references

publication date

28 November 2016

0 references

4 January 2017

2 references

25 November 2020

8 April 2021

Nucleic Acids Research

3 references

25 November 2020

8 April 2021

45

0 references

page(s)

D865-D876

0 references

issue

D1

0 references

copyright license

2 references

Europe PubMed Central

25 November 2020

Europe PubMed Central

Capturing phenotypes for precision medicine

8 April 2021

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Inherited platelet disorders: toward DNA-based diagnosis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

MalaCards: an integrated compendium for diseases and their annotation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

PREDICT: a method for inferring novel drug indications with application to personalized medicine

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

SUPERFAMILY--sophisticated comparative genomics, data mining, visualization and phylogeny

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

The Matchmaker Exchange: a platform for rare disease gene discovery

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

ClinGen--the Clinical Genome Resource

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Clinical interpretation of CNVs with cross-species phenotype data

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

The Unified Medical Language System (UMLS): integrating biomedical terminology

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

GREAT improves functional interpretation of cis-regulatory regions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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=5210535

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet 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=5210535

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental 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=5210535

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial 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=5210535

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Unravelling the human genome-phenome relationship using phenome-wide association studies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel 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=5210535

GWASdb v2: an update database for human genetic variants identified by genome-wide association studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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=5210535

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

DIDA: A curated and annotated digenic diseases database.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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=5210535

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic 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=5210535

Phenolyzer: phenotype-based prioritization of candidate genes for 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=5210535

Innovative genomic collaboration using the GENESIS (GEM.app) platform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

PANDA: pathway and annotation explorer for visualizing and interpreting gene-centric 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=5210535

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet 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=5210535

Identification of a large set of rare complete human knockouts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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=5210535

Walking on multiple disease-gene networks to prioritize candidate genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Finding our way through phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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=5210535

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=5210535

Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's 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=5210535

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease 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=5210535

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery 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=5210535

PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

MORPHIN: a web tool for human disease research by projecting model organism biology onto a human integrated gene network.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Convergence of genes and cellular pathways dysregulated in autism spectrum 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=5210535

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Phenotype ontologies and cross-species analysis for translational 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=5210535

Modeling 3D facial shape from DNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Using the internet to seek information about genetic and rare diseases: a case study comparing data from 2006 and 2011

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

ClinVar: public archive of relationships among sequence variation and human phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

eXtasy: variant prioritization by genomic data fusion.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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=5210535

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=5210535

Decision support methods for finding phenotype--disorder associations in the bone dysplasia domain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

DcGO: database of domain-centric ontologies on functions, phenotypes, diseases and more

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Bayesian ontology querying for accurate and noise-tolerant semantic searches

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Deep phenotyping for precision medicine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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=5210535

MouseFinder: Candidate disease genes from mouse phenotype 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=5210535

PhenomeNET: a whole-phenome approach to 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=5210535

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary 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=5210535

PhenoStacks: Cross-Sectional Cohort Phenotype Comparison Visualizations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

Whole-genome sequencing of quartet families with autism spectrum disorder

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

GeneSetDB: A comprehensive meta-database, statistical and visualisation framework for gene set analysis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210535

2 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKW1039

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKW1039

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKW1039

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKW1039

The Deciphering Developmental Disorders (DDD) study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKW1039

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKW1039

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNAR%2FGKW1039

PhenoBlocks: Phenotype Comparison Visualizations

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27899602

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NAR/GKW1039

0 references

DBLP publication ID

journals/nar/0001VEFMABBBBBB17

1 reference