(Q34526536)

2 August 2017

title

Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome (English)

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2 August 2017

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mitochondrial disease

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Marni J Falk

1

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2 August 2017

Eric A Pierce

2

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2 August 2017

Mark Consugar

3

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2 August 2017

Michael H Xie

4

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2 August 2017

Moraima Guadalupe

5

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2 August 2017

Owen Hardy

6

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2 August 2017

Eric F Rappaport

7

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2 August 2017

Douglas C Wallace

8

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2 August 2017

Emily LeProust

9

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2 August 2017

Xiaowu Gai

10

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2 August 2017

publication date

1 December 2012

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2 August 2017

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2 August 2017

volume

14

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2 August 2017

issue

79

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2 August 2017

page(s)

389-399

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Molecular genetic testing for mitochondrial disease: from one generation to the next

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

Fidelity of capture-enrichment for mtDNA genome sequencing: influence of NUMTs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

A new approach for detecting low-level mutations in next-generation sequence data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

Comprehensive comparison of three commercial human whole-exome capture platforms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

The Mitochondrial Proteome and Human Disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

Recent advances in the genetics of mitochondrial encephalopathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

A mitochondrial protein compendium elucidates complex I disease biology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

Mitochondrial disease: a practical approach for primary care physicians.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

Mitochondrial DNA-like sequences in the nucleus (NUMTs): insights into our African origins and the mechanism of foreign DNA integration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3923327

Analysis of mitochondrial DNA point mutation heteroplasmy by ARMS quantitative PCR

7 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23272691

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23272691

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

3923327

1 reference

2 August 2017

1 reference