The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles (Q28603410)

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Language	Label	Description	Also known as
English	The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles	scientific article

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instance of

scholarly article

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title

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

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main subject

automation

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patient

1 reference

based on heuristic

inferred from title

author

Christopher J. Mungall

series ordinal

10

object named as

Chris Mungall

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Michael Brudno

series ordinal

11

object named as

Michael Brudno

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Orion J Buske

series ordinal

1

object named as

Orion J Buske

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Sergiu Dumitriu

series ordinal

4

object named as

Sergiu Dumitriu

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author name string

François Schiettecatte

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2

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Benjamin Hutton

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3

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Andriy Misyura

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5

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Lijia Huang

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6

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Taila Hartley

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7

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Marta Girdea

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8

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Nara Sobreira

series ordinal

9

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language of work or name

English

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publication date

October 2015

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published in

Human Mutation

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volume

36

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issue

10

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page(s)

922-7

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cites work

The Matchmaker Exchange: a platform for rare disease gene discovery

1 reference

stated in

PubMed Central

reference URL

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17 March 2017

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

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PubMed Central

reference URL

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17 March 2017

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

1 reference

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PubMed Central

reference URL

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retrieved

17 March 2017

The Sequence Ontology: a tool for the unification of genome annotations

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4775166

retrieved

17 March 2017

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4775166

retrieved

17 March 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4775166

retrieved

29 September 2017

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4775166

retrieved

29 September 2017

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

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4775166

retrieved

29 September 2017

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4775166

retrieved

29 September 2017

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.22850

retrieved

21 January 2018

Identifiers

DOI

10.1002/HUMU.22850

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PMC publication ID

4775166

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PubMed publication ID

26255989

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ResearchGate publication ID

280874075

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