(Q36380415)

13 August 2017

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

1 reference

13 August 2017

0 references

1 reference

5

Rebecca Schüle

1 reference

13 August 2017

6

Stephan Zuchner

1 reference

13 August 2017

0 references

Michael Gonzalez

1

1 reference

13 August 2017

Marni J Falk

series ordinal

2

1 reference

13 August 2017

Xiaowu Gai

series ordinal

3

1 reference

13 August 2017

Richard Postrel

series ordinal

4

1 reference

13 August 2017

14 July 2015

1 reference

13 August 2017

1 reference

13 August 2017

36

1 reference

13 August 2017

10

1 reference

13 August 2017

950-956

1 reference

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

1 reference

13 August 2017

PubMed publication ID

26173844

1 reference