(Q37217044)

19 August 2017

Actionable, pathogenic incidental findings in 1,000 participants' exomes (English)

1 reference

19 August 2017

0 references

21

Wylie Burke

1 reference

19 August 2017

26

Gail P Jarvik

0 references

James T Bennett

James T Bennett

10

0 references

Emily H Turner

Emily H Turner

3

0 references

Tom Walsh

Tom Walsh

20

0 references

Deborah A Nickerson

25

Deborah A Nickerson

1 reference

19 August 2017

16

Michael J Bamshad

1 reference

19 August 2017

23

Peter Byers

1 reference

19 August 2017

15

Holly K Tabor

1 reference

19 August 2017

1

Michael O Dorschner

1 reference

National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project

19 August 2017

14

National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project

1 reference

19 August 2017

Laura M Amendola

2

1 reference

19 August 2017

Peggy D Robertson

4

1 reference

19 August 2017

Brian H Shirts

5

1 reference

19 August 2017

Carlos J Gallego

6

1 reference

19 August 2017

Robin L Bennett

7

1 reference

19 August 2017

Kelly L Jones

8

1 reference

19 August 2017

Mari J Tokita

9

1 reference

19 August 2017

Jerry H Kim

11

1 reference

19 August 2017

Elisabeth A Rosenthal

12

1 reference

19 August 2017

Daniel S Kim

13

1 reference

19 August 2017

Arno G Motulsky

17

1 reference

19 August 2017

C Ronald Scott

18

1 reference

19 August 2017

Colin C Pritchard

19

1 reference

19 August 2017

Wendy H Raskind

22

1 reference

19 August 2017

Fuki M Hisama

24

1 reference

19 August 2017

language of work or name

English

0 references

publication date

19 September 2013

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

93

1 reference

19 August 2017

631-640

1 reference

19 August 2017

4

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

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=3791261

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

The search for unaffected individuals with Lynch syndrome: do the ends justify the means?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

The A's, G's, C's, and T's of health disparities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

The future of incidental findings: should they be viewed as benefits?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Proportionally more deleterious genetic variation in European than in African populations.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Population structure and eigenanalysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Principal components analysis corrects for stratification in genome-wide association studies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Genomic incidental findings: reducing the burden to be fair.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

The Human Gene Mutation Database: 2008 update

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Reporting genetic results in research studies: summary and recommendations of an NHLBI working group.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

'Racial' differences in genetic effects for complex diseases

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3791261

Compound-heterozygous Marfan syndrome

20 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24055113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

There is nothing 'incidental' about unrelated findings

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24055113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.08.006

1 reference

19 August 2017

1 reference

19 August 2017

1 reference