(Q24273314)

1

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Iris Schrijver

3

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James L Zehnder

4

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Euan A Ashley

5

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Jason D Merker

Creative Commons Attribution 4.0 International

6

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language of work or name

English

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publication date

2014

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published in

Genes

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volume

5

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issue

3

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page(s)

748-66

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copyright license

start time

1 September 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Association between a literature-based genetic risk score and cardiovascular events in women

19 March 2017

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Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1

19 March 2017

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Exome sequencing identifies the cause of a mendelian disorder

19 March 2017

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Why most published research findings are false

19 March 2017

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DNA Sequencing versus Standard Prenatal Aneuploidy Screening

19 March 2017

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Exome sequencing and complex disease: practical aspects of rare variant association studies

19 March 2017

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Toward Precision Medicine

19 March 2017

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

19 March 2017

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Guidelines for investigating causality of sequence variants in human disease

19 March 2017

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

19 March 2017

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Progress and potential: training in genomic pathology

7 April 2017

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Clinical interpretation and implications of whole-genome sequencing

27 September 2017

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Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

27 September 2017

1 reference

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Increasing value and reducing waste in research design, conduct, and analysis

27 September 2017

1 reference

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ClinVar: public archive of relationships among sequence variation and human phenotype

27 September 2017

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

27 September 2017

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ACMG clinical laboratory standards for next-generation sequencing

27 September 2017

1 reference

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Return of incidental findings in genomic medicine: measuring what patients value--development of an instrument to measure preferences for information from next-generation testing (IMPRINT).

27 September 2017

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Detection and interpretation of genomic structural variation in health and disease.

27 September 2017

1 reference

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

27 September 2017

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Diagnostic applications of high-throughput DNA sequencing

27 September 2017

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27 September 2017

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The false-positive to false-negative ratio in epidemiologic studies

27 September 2017

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A decade's perspective on DNA sequencing technology

27 September 2017

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Use of genomic profiling to assess risk for cardiovascular disease and identify individualized prevention strategies--a targeted evidence-based review

27 September 2017

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

27 September 2017

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27 September 2017

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Molecular epidemiology of viral diseases in the era of next generation sequencing

27 September 2017

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Revisiting oversight and regulation of molecular-based laboratory-developed tests: a position statement of the Association for Molecular Pathology

21 January 2018

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Cystic fibrosis carrier testing in an ethnically diverse US population

21 January 2018

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Integration of genomic medicine into pathology residency training: the stanford open curriculum.

21 January 2018

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American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.

21 January 2018

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Points to consider for informed consent for genome/exome sequencing.

21 January 2018

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AMP v Myriad: the Supreme Court gives a win to personalized medicine

21 January 2018

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Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing

21 January 2018

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12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

12 December 2020

Illumina claims $1,000 genome win

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12 December 2020

The NIH Undiagnosed Diseases Program: lessons learned

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12 December 2020

Test verification and validation for molecular diagnostic assays

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12 December 2020

A call to action: training pathology residents in genomics and personalized medicine

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12 December 2020

https://api.fatcat.wiki/v0/release/7dqowue5xrawzmrmap3n3g7jwa

Identifiers

1 reference

30 July 2022

release_7dqowue5xrawzmrmap3n3g7jwa

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7dqowue5xrawzmrmap3n3g7jwa

30 July 2022

https://api.fatcat.wiki/v0/release/7dqowue5xrawzmrmap3n3g7jwa

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/7dqowue5xrawzmrmap3n3g7jwa

PubMed publication ID

1 reference

30 July 2022