(Q36695676)

15 August 2017

Towards a European consensus for reporting incidental findings during clinical NGS testing (English)

1 reference

Xavier Estivill i Pallejà

15 August 2017

0 references

16

1 reference

15 August 2017

8

Anne Cambon-Thomsen

0 references

Peter Robinson

17

Peter N Robinson

0 references

Maurizio Genuardi

Maurizio Genuardi

6

0 references

Ettore Capoluongo

Ettore Capoluongo

14

0 references

Martina C. Cornel

11

Martina C Cornel

1 reference

15 August 2017

13

Aarno Palotie

1 reference

15 August 2017

Mireille Claustres

2

1 reference

15 August 2017

10

Joris Vermeesch

1 reference

15 August 2017

15

Borut Peterlin

1 reference

15 August 2017

1

Jayne Y Hehir-Kwa

1 reference

15 August 2017

Ros J Hastings

3

1 reference

15 August 2017

Conny van Ravenswaaij-Arts

4

1 reference

15 August 2017

Gabrielle Christenhusz

5

1 reference

15 August 2017

Béla Melegh

7

1 reference

15 August 2017

Philippos Patsalis

9

1 reference

15 August 2017

Beverly Searle

12

1 reference

15 August 2017

language of work or name

English

0 references

publication date

3 June 2015

1 reference

European Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

23

1 reference

15 August 2017

12

1 reference

15 August 2017

1601-1606

1 reference

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Guidelines for investigating causality of sequence variants in human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

ACMG clinical laboratory standards for next-generation sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Point-counterpoint. Ethics and genomic incidental findings

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Incidental variants are critical for genomics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Management of familial hypercholesterolemia: a review of the recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Carrier testing for severe childhood recessive diseases by next-generation sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

The Sequence Alignment/Map format and SAMtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

MutationTaster2: mutation prediction for the deep-sequencing age.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Call for prudence in whole-genome testing

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Incidental findings in clinical genomics: a clarification

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Empirical research on the ethics of genomic research.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Communication of results and disclosure of incidental findings in longitudinal paediatric research

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Genomic incidental findings: reducing the burden to be fair

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Diagnostic exome sequencing in persons with severe intellectual disability

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

[Actors and tools of predictive genetics: ethics at the heart of governance]

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795187

Analysis of published PKD1 gene sequence variants

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26036857

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.111

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

26036857

1 reference