Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray (Q35959752)

11 August 2017

Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray (English)

1 reference

11 August 2017

Robin Z Hayeems

1

1 reference

11 August 2017

Ny Hoang

2

1 reference

11 August 2017

Sebastien Chenier

3

1 reference

11 August 2017

Dimitri J Stavropoulos

4

1 reference

11 August 2017

Shuye Pu

5

1 reference

11 August 2017

Rosanna Weksberg

6

1 reference

11 August 2017

Cheryl Shuman

7

1 reference

11 August 2017

10 December 2014

1 reference

European Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

23

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11 August 2017

9

1 reference

11 August 2017

1135-1141

1 reference

Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

The promise and challenges of next-generation genome sequencing for clinical care

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Implementing genomic medicine in the clinic: the future is here

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Psychological effects of false-positive results in expanded newborn screening in China

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

False-positive newborn screening result and future health care use in a state Medicaid cohort

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Chromosomal microarray testing influences medical management

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Genomic medicine and neurological disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

A formal risk-benefit framework for genomic tests: Facilitating the appropriate translation of genomics into clinical practice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

The human phenotype ontology.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

The promise and reality of personal genomics

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Whole genome scanning: resolving clinical diagnosis and management amidst complex data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Challenges of translating genetic tests into clinical and public health practice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

A health services research agenda for cellular, molecular and genomic technologies in cancer care

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Congenital heart disease and aneuploidy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Renal and urinary tract abnormalities associated with chromosome aberrations.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Standardization of genetic tests needed

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

The impact of chromosomal microarray on clinical management: a retrospective analysis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Chromosomal microarray impacts clinical management

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Clinical utility of chromosomal microarray analysis

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

So what? Does the test lead to improved health outcomes?

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

RETIRED: Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement?

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Microarray as a first genetic test in global developmental delay: a cost-effectiveness analysis

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Extending the reach of public health genomics: what should be the agenda for public health in an era of genome-based and “personalized” medicine?

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

What is the clinical utility of genetic testing?

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538218

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25491637

12 December 2020

inferred from PubMed ID database lookup

Challenges in the clinical application of whole-genome sequencing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25491637

12 December 2020

inferred from PubMed ID database lookup

Market access challenges in the EU for high medical value diagnostic tests

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25491637

12 December 2020

inferred from PubMed ID database lookup

Evolution of Translational Omics

1 reference

Crossref

https://api.crossref.org/works/10.1038/EJHG.2014.260

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2014.260

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

25491637

1 reference