PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases (Q33787699)

29 July 2017

title

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases (English)

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29 July 2017

Peter N Robinson

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Melissa Haendel

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Melissa A Haendel

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David Adams

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Kym M Boycott

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29 July 2017

Michael Brudno

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29 July 2017

Nicole L Washington

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29 July 2017

Orion J Buske

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29 July 2017

Sergiu Dumitriu

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29 July 2017

Chandree Beaulieu

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29 July 2017

Marta Girdea

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29 July 2017

Bailey Gallinger

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29 July 2017

Taila Hartley

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29 July 2017

Heather Trang

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29 July 2017

Andriy Misyura

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29 July 2017

Tal Friedman

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29 July 2017

William P Bone

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29 July 2017

Amanda E Links

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29 July 2017

Cornelius F Boerkoel

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29 July 2017

William A Gahl

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29 July 2017

publication date

7 August 2015

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29 July 2017

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29 July 2017

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29 July 2017

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29 July 2017

page(s)

931-940

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

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

The Matchmaker Exchange: a platform for rare disease gene discovery

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

PhenoTips: patient phenotyping software for clinical and research use.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

MouseFinder: Candidate disease genes from mouse phenotype data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

A map of human genome variation from population-scale sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

Gene ontology: tool for the unification of biology

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

Bayesian ontology querying for accurate and noise-tolerant semantic searches

28 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22851

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22851

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22851

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22851

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22851

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22851

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467641

30 October 2018

Identifiers

DOI

10.1002/HUMU.22851

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29 July 2017

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29 July 2017

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