A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. (Q37377663)

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3 April 2020

title

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

1 reference

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author

Jessica Ezzell Hunter

1

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3 April 2020

Stephanie A. Irving

2

1 reference

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3 April 2020

Adam Buchanan

4

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3 April 2020

Kristy Lee

6

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Kristin Muessig

9

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3 April 2020

Annie D Niehaus

10

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Julianne M O'Daniel

11

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Margaret Piper

12

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Sheri D Schully

14

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3 April 2020

Natasha T Strande

18

1 reference

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3 April 2020

Elizabeth M Webber

20

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Marc S. Williams

21

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Jonathan S Berg

22

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James P. Evans

23

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3 April 2020

Katrina A. B. Goddard

24

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16

Anne Slavotinek

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3 April 2020

author name string

Brian Jensen

5

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3 April 2020

Laura Milko

8

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3 April 2020

Erin M Ramos

13

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3 April 2020

Alan F Scott

15

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3 April 2020

Nara Sobreira

17

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Meredith Weaver

19

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3 April 2020

Leslie G Biesecker

3

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Christa Lese Martin

7

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language of work or name

English

0 references

publication date

28 April 2016

1 reference

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3 April 2020

1 reference

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volume

18

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issue

12

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3 April 2020

page(s)

1258-1268

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

3 April 2020

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Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

6 September 2017

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Management of the patient and family with neurofibromatosis 2: a consensus conference statement

6 September 2017

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https://api.crossref.org/works/10.1038/GIM.2016.40

Deflating the Genomic Bubble

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https://api.crossref.org/works/10.1038/GIM.2016.40

Colorectal cancer screening

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PubMed

https://pubmed.ncbi.nlm.nih.gov/27124788

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical Practice Guidelines We Can Trust

1 reference

Crossref

https://api.crossref.org/works/10.1038/GIM.2016.40

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/GIM.2016.40

1 reference

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3 April 2020

1 reference

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3 April 2020

PubMed publication ID

27124788

1 reference