(Q47611089)

4 February 2018

title

Points to consider in the clinical use of NGS panels for mitochondrial disease: an analysis of gene inclusion and consent forms. (English)

1 reference

4 February 2018

main subject

informed consent

0 references

informed consent form

0 references

mitochondrial disease

1 reference

Julia Platt

1

1 reference

4 February 2018

Rachel Cox

series ordinal

2

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4 February 2018

Gregory M Enns

series ordinal

3

1 reference

4 February 2018

publication date

8 January 2014

1 reference

4 February 2018

Journal of Genetic Counseling

published in

1 reference

4 February 2018

volume

23

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4 February 2018

issue

4

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4 February 2018

page(s)

594-603

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4 February 2018

The genetics and neuropathology of amyotrophic lateral sclerosis

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Succinate dehydrogenase-deficient tumors: diagnostic advances and clinical implications

21 January 2018

1 reference

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Diagnostic criteria for respiratory chain disorders in adults and children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

The mitochondrial proteome and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Respiratory chain deficiencies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Mitochondrial respiratory-chain diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Mitochondrial disease in childhood: nuclear encoded

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Mitochondria: in sickness and in health

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Technical report: Ethical and policy issues in genetic testing and screening of children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Recent advances in the genetics of mitochondrial encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Genetic counseling in mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Next generation molecular diagnosis of mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9683-2

Practices and policies of clinical exome sequencing providers: analysis and implications.

21 January 2018

1 reference

12 December 2020

Erratum: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Points to consider in the clinical application of genomic sequencing

1 reference

12 December 2020

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

1 reference

12 December 2020

10.1007/S10897-013-9683-2

Identifiers

DOI

1 reference

4 February 2018

release_wflicygrtvgnpfjxd6pgfh4qrm

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wflicygrtvgnpfjxd6pgfh4qrm

24 November 2022

mapped directly with Wikidata item

PubMed ID

24399097

1 reference

4 February 2018