(Q33680419)

28 July 2017

title

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

1 reference

28 July 2017

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Eloisa Arbustini

5

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Joseph Fass

series ordinal

2

object named as

Joseph Fass

1 reference

28 July 2017

Michael V Zaragoza

1

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28 July 2017

Marta Diegoli

series ordinal

3

1 reference

28 July 2017

Dawei Lin

series ordinal

4

1 reference

28 July 2017

language of work or name

English

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publication date

20 August 2010

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28 July 2017

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28 July 2017

volume

5

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28 July 2017

issue

8

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28 July 2017

page(s)

e12295

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Creative Commons Attribution 4.0 International

28 July 2017

copyright license

start time

20 August 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

massive parallel sequencing

1 reference

based on heuristic

inferred from title

cites work

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

21 June 2018

Single-molecule genomics

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An integrated pipeline for next-generation sequencing and annotation of mitochondrial genomes

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

Next generation sequence analysis for mitochondrial disorders

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

The diversity present in 5140 human mitochondrial genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

Evaluation of next generation sequencing platforms for population targeted sequencing studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

The inheritance of pathogenic mitochondrial DNA mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

Next-generation sequencing: from basic research to diagnostics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

Accurate whole human genome sequencing using reversible terminator chemistry

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences

21 June 2018

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A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations

21 June 2018

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Parallel tagged sequencing on the 454 platform

21 June 2018

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A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

21 June 2018

1 reference

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Targeted high-throughput sequencing of tagged nucleic acid samples

21 June 2018

1 reference

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Accuracy and quality of massively parallel DNA pyrosequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine

21 June 2018

1 reference

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Rapid and accurate pyrosequencing of angiosperm plastid genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

Genome sequencing in microfabricated high-density picolitre reactors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

PCR amplification introduces errors into mononucleotide and dinucleotide repeat sequences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

21 June 2018

1 reference

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Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure

21 June 2018

1 reference

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Sequence and organization of the human mitochondrial genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

Maternal inheritance of human mitochondrial DNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

DNA sequencing with chain-terminating inhibitors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2924892

The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012295

Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012295

Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012295

A Standard Reference Material to determine the sensitivity of techniques for detecting low-frequency mutations, SNPs, and heteroplasmies in mitochondrial DNA.

21 January 2018

1 reference

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Long PCR amplification of the entire mitochondrial genome from individual helminths for direct sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012295

Mitochondrial D-loop (CA) n repeat length heteroplasmy: frequency in a German population sample and inheritance studies in two pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012295

Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20808834

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial tRNA mutations: clinical and functional perturbations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20808834

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0012295

1 reference

28 July 2017

0 references

1 reference

28 July 2017

1 reference