(Q36066929)

English

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

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scholarly article

1 reference

Europe PubMed Central

12 August 2017

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing (English)

1 reference

Europe PubMed Central

12 August 2017

reproducibility

1 reference

based on heuristic

inferred from title

Kinga Bujakowska

4

object named as

Kinga M Bujakowska

1 reference

Europe PubMed Central

12 August 2017

object named as

Daniel G Taub

7

0 references

David A. Sweetser

object named as

David A Sweetser

12

0 references

object named as

Eric A Pierce

17

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author name string

Mark B Consugar

1

1 reference

Europe PubMed Central

12 August 2017

Daniel Navarro-Gomez

2

1 reference

Europe PubMed Central

12 August 2017

Emily M Place

3

1 reference

Europe PubMed Central

12 August 2017

Maria E Sousa

5

1 reference

Europe PubMed Central

12 August 2017

Zoë D Fonseca-Kelly

6

1 reference

Europe PubMed Central

12 August 2017

Maria Janessian

8

1 reference

Europe PubMed Central

12 August 2017

Dan Yi Wang

9

1 reference

Europe PubMed Central

12 August 2017

Elizabeth D Au

10

1 reference

Europe PubMed Central

12 August 2017

Katherine B Sims

11

1 reference

Europe PubMed Central

12 August 2017

Anne B Fulton

13

1 reference

Europe PubMed Central

12 August 2017

Qin Liu

14

1 reference

Europe PubMed Central

12 August 2017

Janey L Wiggs

15

1 reference

Europe PubMed Central

12 August 2017

Xiaowu Gai

16

1 reference

Europe PubMed Central

12 August 2017

language of work or name

0 references

publication date

20 November 2014

1 reference

Europe PubMed Central

12 August 2017

Genetics in Medicine

1 reference

Europe PubMed Central

12 August 2017

17

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Europe PubMed Central

12 August 2017

4

1 reference

Europe PubMed Central

12 August 2017

253-261

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Europe PubMed Central

12 August 2017

https://scigraph.springernature.com/pub.10.1038/gim.2014.172

0 references

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Diagnostic exome sequencing: a new paradigm in neurology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

ACMG clinical laboratory standards for next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Advancing genetic testing for deafness with genomic technology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Genetic and phenotypic variability of optic neuropathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Disease-targeted sequencing: a cornerstone in the clinic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Assuring the quality of next-generation sequencing in clinical laboratory practice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

NMNAT1 mutations cause Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Next-generation genetic testing for retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Glaucoma: genes, phenotypes, and new directions for therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Effect of gene therapy on visual function in Leber's congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Safety and efficacy of gene transfer for Leber's congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

The number of people with glaucoma worldwide in 2010 and 2020

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Understanding interobserver agreement: the kappa statistic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

2 October 2017

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

11 July 2018

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

23 September 2018

Points to consider in the clinical use of NGS panels for mitochondrial disease: an analysis of gene inclusion and consent forms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

23 September 2018

Genetic diagnostics of early childhood hearing loss: better testing with next-generation DNA sequencing

1 reference

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23 September 2018

Validation of a next-generation sequencing assay for clinical molecular oncology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

23 September 2018

Genetic testing for inherited eye disease: who benefits?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

23 September 2018

Causes and prevalence of visual impairment among adults in the United States

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4572572

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Prevalence and causes of visual impairment and blindness among 9980 Scandinavian adults: the Copenhagen City Eye Study.

1 reference

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23 September 2018

Clinical genetics: exomes in the clinic

1 reference

https://pubmed.ncbi.nlm.nih.gov/25412400

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Whole-exome sequencing emerges as clinical diagnostic tool: testing method proves useful for diagnosing wide range of genetic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/25412400

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/GIM.2014.172

1 reference

Europe PubMed Central

12 August 2017

Microsoft Academic ID

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1 reference

Europe PubMed Central

12 August 2017

1 reference

Europe PubMed Central

12 August 2017

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