(Q34073493)

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Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice

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scholarly article

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Europe PubMed Central

30 July 2017

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Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice (English)

1 reference

Europe PubMed Central

30 July 2017

research ethics

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single-nucleotide polymorphism

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author name string

Arthur L Beaudet

1

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Europe PubMed Central

30 July 2017

publication date

17 July 2010

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Europe PubMed Central

30 July 2017

Genome Medicine

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Europe PubMed Central

30 July 2017

2

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Europe PubMed Central

30 July 2017

7

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Europe PubMed Central

30 July 2017

42

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Europe PubMed Central

30 July 2017

https://scigraph.springernature.com/pub.10.1186/gm163

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Genomics of type 2 diabetes mellitus: implications for the clinician

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Direct-to-consumer genetic testing: the need to get retail genomics right

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Direct-to-consumer genetic testing: failure is not an option

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Carrier testing for autosomal-recessive disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Direct-to-consumer sales of genetic services on the Internet

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

Incest and mental handicap

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

5 July 2018

An agenda for personalized medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923734

28 October 2018

ACMG statement on direct-to-consumer genetic testing

1 reference

https://pubmed.ncbi.nlm.nih.gov/20642868

12 December 2020

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Europe PubMed Central

30 July 2017

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1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

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