(Q36924136)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27243033%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

title

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27243033%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1

1 reference

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3 April 2020

Diana L Kolbe

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27243033%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Sara O Mason

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27243033%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Richard J Smith

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27243033%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Colleen A Campbell

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27243033%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

author name string

M Adela Mansilla

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27243033%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

language of work or name

English

0 references

publication date

8 May 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27243033%20AND%20SRC:MED&resulttype=core&format=json

BioMed Research International

3 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27243033%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

volume

2016

1 reference

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3 April 2020

page(s)

6421039

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27243033%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

3 April 2020

copyright license

start time

1 January 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

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1 reference

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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

29 September 2017

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Clinical exome sequencing for genetic identification of rare Mendelian disorders

29 September 2017

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Molecular findings among patients referred for clinical whole-exome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4875968

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4875968

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

29 September 2017

1 reference

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An integrated map of genetic variation from 1,092 human genomes

29 September 2017

1 reference

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The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria

29 September 2017

1 reference

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

29 September 2017

1 reference

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Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

29 September 2017

1 reference

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

29 September 2017

1 reference

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Genetic testing in the epilepsies--report of the ILAE Genetics Commission

29 September 2017

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4875968

How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium

29 September 2017

1 reference

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Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

29 September 2017

1 reference

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dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

27 June 2018

1 reference

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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4875968

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4875968

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4875968

4 September 2018

Identifiers

DOI

10.1155/2016/6421039

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27243033%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27243033%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference