Innovative genomic collaboration using the GENESIS (GEM.app) platform (Q36380415)

13 August 2017

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

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13 August 2017

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5

Rebecca Schüle

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13 August 2017

6

Stephan Zuchner

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13 August 2017

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Michael Gonzalez

1

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13 August 2017

Marni J Falk

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2

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13 August 2017

Xiaowu Gai

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3

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13 August 2017

Richard Postrel

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4

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13 August 2017

14 July 2015

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13 August 2017

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13 August 2017

36

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13 August 2017

10

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13 August 2017

950-956

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Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4682547

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4682547

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4682547

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4682547

Monogenic mitochondrial disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4682547

Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4682547

Neuropathy target esterase gene mutations cause motor neuron disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4682547

The NCBI dbGaP database of genotypes and phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4682547

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4682547

28 June 2018

Identifiers

DOI

10.1002/HUMU.22836

1 reference

13 August 2017

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13 August 2017

PubMed publication ID

26173844

1 reference