(Q35038366)

24215330

5 August 2017

title

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity (English)

1 reference

5 August 2017

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24215330%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

author name string

Jeana T DaRe

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24215330%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

John Penn

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24215330%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Nguyen-Thao B Tran

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24215330%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Si Houn Hahn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24215330%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

publication date

11 November 2013

1 reference

5 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24215330%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24215330%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

page(s)

118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24215330%20AND%20SRC:MED&resulttype=core&format=json

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

6 June 2020

cites work

1 reference

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Targeted exome sequencing of suspected mitochondrial disorders

8 July 2018

1 reference

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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

8 July 2018

1 reference

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Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

8 July 2018

1 reference

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Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

8 July 2018

1 reference

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Molecular basis of axonal dysfunction and traffic impairments in CMT.

8 July 2018

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The 1000 Genomes Project: data management and community access

8 July 2018

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

8 July 2018

1 reference

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

8 July 2018

1 reference

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The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

8 July 2018

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Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Defects in mitochondrial DNA replication and human disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Ataxia in mitochondrial disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Carrier testing for severe childhood recessive diseases by next-generation sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Dindel: accurate indel calls from short-read data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

The Mitochondrial Proteome and Human Disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

A method and server for predicting damaging missense mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Next generation sequence analysis for mitochondrial disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Fast and accurate short read alignment with Burrows-Wheeler transform

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Mapping gene associations in human mitochondria using clinical disease phenotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Pathogenic mitochondrial DNA mutations are common in the general population

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

The in-depth evaluation of suspected mitochondrial disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Two cases of phosphoenolpyruvate carboxykinase deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-118

Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-118

Sequence Capture and Next-Generation Resequencing of Multiple Tagged Nucleic Acid Samples for Mutation Screening of Urea Cycle Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-118

Diagnostic criteria for respiratory chain disorders in adults and children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-118

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-118

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-118

Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-118

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-118

Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-118

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-118

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-118

Gitelman syndrome as a cause of psychomotor retardation in a toddler.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827825

Spastin mutations in sporadic adult-onset upper motor neuron syndromes

25 October 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-118

Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24215330

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24215330

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-14-118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24215330%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

6 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24215330%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

24215330

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24215330%20AND%20SRC:MED&resulttype=core&format=json