Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome (Q34526536)

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

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scholarly article

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PubMed publication ID

23272691

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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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Europe PubMed Central

PubMed publication ID

23272691

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2 August 2017

main subject

mitochondrion

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based on heuristic

inferred from title

mitochondrial disease

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author

Marni Falk

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author name string

Marni J Falk

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1

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Europe PubMed Central

PubMed publication ID

23272691

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2 August 2017

Eric A Pierce

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2

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Europe PubMed Central

PubMed publication ID

23272691

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2 August 2017

Mark Consugar

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3

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Europe PubMed Central

PubMed publication ID

23272691

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2 August 2017

Michael H Xie

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4

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PubMed publication ID

23272691

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2 August 2017

Moraima Guadalupe

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5

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23272691

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2 August 2017

Owen Hardy

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6

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23272691

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2 August 2017

Eric F Rappaport

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7

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23272691

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2 August 2017

Douglas C Wallace

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8

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23272691

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2 August 2017

Emily LeProust

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9

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23272691

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2 August 2017

Xiaowu Gai

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10

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23272691

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2 August 2017

publication date

1 December 2012

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Europe PubMed Central

PubMed publication ID

23272691

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2 August 2017

published in

Discovery Medicine

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Europe PubMed Central

PubMed publication ID

23272691

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2 August 2017

volume

14

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23272691

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2 August 2017

issue

79

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23272691

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2 August 2017

page(s)

389-399

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PubMed publication ID

23272691

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2 August 2017

cites work

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

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PubMed Central

reference URL

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

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

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

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7 July 2018

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

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7 July 2018

Comprehensive comparison of three commercial human whole-exome capture platforms

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7 July 2018

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

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7 July 2018

The Mitochondrial Proteome and Human Disease

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7 July 2018

Recent advances in the genetics of mitochondrial encephalopathies

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7 July 2018

A mitochondrial protein compendium elucidates complex I disease biology

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7 July 2018

Mitochondrial disease: a practical approach for primary care physicians.

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7 July 2018

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

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7 July 2018

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

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PubMed Central

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7 July 2018

Analysis of Mitochondrial DNA Point Mutation Heteroplasmy by ARMS Quantitative PCR

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PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

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

retrieved

12 December 2020

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PMC publication ID

3923327

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23272691

retrieved

2 August 2017

PubMed publication ID

23272691

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23272691

retrieved

2 August 2017

 

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