(Q41999133)

15 October 2017

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? (English)

1 reference

15 October 2017

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Katrien Stouffs

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Sara Seneca

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Kim Vancampenhout

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Rudy Van Coster

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Joél Smet

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Willy Lissens

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Arnaud Vanlander

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

An Jonckheere

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Linda De Meirleir

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

publication date

26 March 2014

1 reference

European Journal of Human Genetics

15 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

41-48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.49

11 June 2020

exact match

0 references

cites work

Evaluation of next generation mtGenome sequencing using the Ion Torrent Personal Genome Machine (PGM)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

5 June 2018

Mitochondrial genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Shining a light on dark sequencing: characterising errors in Ion Torrent PGM data

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Human mitochondrial DNA: roles of inherited and somatic mutations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Universal heteroplasmy of human mitochondrial DNA.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Performance comparison of benchtop high-throughput sequencing platforms

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Mitochondrial DNA variant discovery and evaluation in human Cardiomyopathies through next-generation sequencing

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Sequencing technologies - the next generation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

The Sequence Alignment/Map format and SAMtools

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Factors affecting the detection and quantification of mitochondrial point heteroplasmy using Sanger sequencing and SNaPshot minisequencing.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266735

Complete mitochondrial genome amplification

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24667782

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24667782

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

24667782

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24667782%20AND%20SRC:MED&resulttype=core&format=json