(Q38883296)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

title

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Jolanda H Schieving

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Gert Jan van der Wilt

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Simone van der Burg

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Janneke Grutters

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Joris A Veltman

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

10

Han G Brunner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Michèl A A P Willemsen

14

object named as

Michèl A A P Willemsen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

5

Tjitske Kleefstra

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

7

Rolph Pfundt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

6

Helger G Yntema

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

author name string

Kirsten J M van Nimwegen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Erik-Jan Kamsteeg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Gert Jan van der Wilt

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

language of work or name

English

0 references

publication date

23 March 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

page(s)

1055-1063

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2017.1

13 March 2020

exact match

0 references

cites work

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

1 reference

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Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

17 June 2018

1 reference

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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

An Incomplete Understanding of Human Genetic Variation

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Genetic studies in intellectual disability and related disorders

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

The diagnostic pathway in complex paediatric neurology: a cost analysis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Molecular findings among patients referred for clinical whole-exome sequencing

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Refining analyses of copy number variation identifies specific genes associated with developmental delay

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

KDM6A point mutations cause Kabuki syndrome

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Exome sequencing: a transformative technology

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Unlocking Mendelian disease using exome sequencing

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Pulling cost-effectiveness analysis up by its bootstraps: a non-parametric approach to confidence interval estimation.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Focus group discussions on secondary variants and next-generation sequencing technologies.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Clinical whole exome sequencing in child neurology practice.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

The usefulness of whole-exome sequencing in routine clinical practice.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Diagnostic exome sequencing in persons with severe intellectual disability

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

The economic cost of brain disorders in Europe

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

Feedback of individual genetic results to research participants: in favor of a qualified disclosure policy

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

22 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2017.1

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589982

4 November 2018

Identifiers

DOI

10.1038/GIM.2017.1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28333917%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference