(Q34544874)

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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

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scholarly article

1 reference

Europe PubMed Central

2 August 2017

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics (English)

1 reference

Europe PubMed Central

2 August 2017

medical genetics

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1

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5 June 2020

4

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5 June 2020

Sophia B Hufnagel

8

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5 June 2020

9

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5 June 2020

10

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5 June 2020

11

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5 June 2020

12

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5 June 2020

Christopher N Vlangos

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5 June 2020

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5 June 2020

David T. Miller

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5 June 2020

author name string

Kathy Adelman

2

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5 June 2020

Sherri J Bale

3

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5 June 2020

Christine Eng

5

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5 June 2020

James P Evans

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5 June 2020

Gail E Herman

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5 June 2020

C Sue Richards

13

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5 June 2020

Christa L Martin

16

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5 June 2020

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publication date

17 November 2016

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2 August 2017

Genetics in Medicine

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5 June 2020

19

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5 June 2020

249-255

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5 June 2020

2

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5 June 2020

https://scigraph.springernature.com/pub.10.1038/gim.2016.190

0 references

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

Anticipate and communicate: Ethical management of incidental and secondary findings in the clinical, research, and direct-to-consumer contexts (December 2013 report of the Presidential Commission for the Study of Bioethical Issues).

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

Reporting genomic secondary findings: ACMG members weigh in.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

ClinGen--the Clinical Genome Resource

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

Mutations in myosin light chain kinase cause familial aortic dissections

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

Diagnosis and treatment of Wilson disease: an update

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

Wilson's disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

Alternative pathway therapy for urea cycle disorders: twenty years later

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

The tuberculosis drug discovery and development pipeline and emerging drug targets

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

21 January 2018

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

7 January 2021

based on heuristic

inferred from DOI database lookup

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

7 January 2021

based on heuristic

inferred from DOI database lookup

Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

7 January 2021

based on heuristic

inferred from DOI database lookup

Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.190

7 January 2021

based on heuristic

inferred from DOI database lookup

The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/27854360

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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