(Q36578258)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Julianne M O'Daniel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Kristy R Crooks

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Eric T. Juengst

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Kristy Lee

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Bradford C Powell

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Cynthia M Powell

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Myra I Roche

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Natasha T Strande

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

18

Kirk C Wilhelmsen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Ann Katherine M Foreman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Jessica K Booker

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Lacey Boshe

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Timothy Carey

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Brian C Jensen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Daniel K Nelson

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Cecile Skrzynia

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Karen E Weck

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

James P Evans

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

language of work or name

English

0 references

publication date

13 August 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

467-475

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2015.104

22 February 2020

exact match

0 references

cites work

Glucokinase MODY and implications for treatment goals of common forms of diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

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).

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

The Informed Cohort Oversight Board: From Values to Architecture

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

Flecainide therapy suppresses exercise-induced ventricular arrhythmias in patients with CASQ2-associated catecholaminergic polymorphic ventricular tachycardia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

Recommendations for returning genomic incidental findings? We need to talk!

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

Point-counterpoint. Patient autonomy and incidental findings in clinical genomics

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

An informatics approach to analyzing the incidentalome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia

9 September 2017

1 reference

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Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases

9 September 2017

1 reference

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Malignant pheochromocytomas and paragangliomas - the importance of a multidisciplinary approach

9 September 2017

1 reference

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Fatty acid oxidation disorders: outcome and long-term prognosis

9 September 2017

1 reference

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Efficacy of statins in familial hypercholesterolaemia: a long term cohort study

9 September 2017

1 reference

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Sanfilippo syndrome: a mini-review

9 September 2017

1 reference

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Marfan syndrome: clinical diagnosis and management

9 September 2017

1 reference

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Inherited thrombophilia: key points for genetic counseling

9 September 2017

1 reference

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Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma

9 September 2017

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30 September 2017

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The genetics and genomics of thoracic aortic disease

28 June 2018

1 reference

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Response to Lindor et al.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752935

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

20 September 2018

1 reference

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Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients.

20 September 2018

1 reference

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20 September 2018

1 reference

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Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene

20 September 2018

1 reference

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Incidence of venous thromboembolism in asymptomatic family members who are carriers of factor V Leiden: a prospective cohort study.

20 September 2018

1 reference

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Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer

20 September 2018

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Crossref

https://api.crossref.org/works/10.1038%2FGIM.2015.104

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21 January 2018

1 reference

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Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome

21 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26270767

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26270767

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Preserving personal autonomy in a genomic testing era

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26270767

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2015.104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26270767%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference