(Q37377663)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

author

Jessica Ezzell Hunter

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Stephanie A. Irving

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Adam Buchanan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Kristy Lee

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Kristin Muessig

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Annie D Niehaus

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Julianne M O'Daniel

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Margaret Piper

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Sheri D Schully

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Natasha T Strande

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Elizabeth M Webber

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Marc S. Williams

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Jonathan S Berg

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

James P. Evans

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Katrina A. B. Goddard

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

16

Anne Slavotinek

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

author name string

Brian Jensen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Laura Milko

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Erin M Ramos

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Alan F Scott

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Nara Sobreira

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Meredith Weaver

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Leslie G Biesecker

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

Christa Lese Martin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

language of work or name

English

0 references

publication date

28 April 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

page(s)

1258-1268

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2016.40

3 April 2020

exact match

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

ClinGen--the Clinical Genome Resource

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

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).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

Diagnostic clinical genome and exome sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

Actionable, pathogenic incidental findings in 1,000 participants' exomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome: a systematic review.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

Evidence and Value: Impact on DEcisionMaking--the EVIDEM framework and potential applications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

The incidentalome: a threat to genomic medicine

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

Charting a course for genomic medicine from base pairs to bedside

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

Incidental findings in clinical genomics: a clarification

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5085884

Technology: The $1,000 genome

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2016.40

Deflating the Genomic Bubble

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2016.40

Colorectal cancer screening

21 January 2018

1 reference

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%2FGIM.2016.40

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/GIM.2016.40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27124788%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference