(Q36995191)

17 August 2017

Incidental copy-number variants identified by routine genome testing in a clinical population (English)

1 reference

17 August 2017

3

1 reference

17 August 2017

Philip M Boone

1

0 references

Chad Shaw

object named as

Chad A Shaw

9

0 references

Amy L McGuire

10

object named as

Amy L McGuire

1 reference

17 August 2017

11

James R Lupski

1 reference

17 August 2017

4

Pawel Stankiewicz

1 reference

17 August 2017

8

Sharon E Plon

1 reference

17 August 2017

5

Sau Wai Cheung

1 reference

17 August 2017

Zachry T Soens

2

1 reference

17 August 2017

Ankita Patel

6

1 reference

17 August 2017

Arthur L Beaudet

7

1 reference

17 August 2017

language of work or name

English

0 references

publication date

9 August 2012

1 reference

17 August 2017

1 reference

17 August 2017

15

1 reference

17 August 2017

1

1 reference

17 August 2017

45-54

1 reference

A systematic survey of loss-of-function variants in human protein-coding genes

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Taxonomizing, sizing, and overcoming the incidentalome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Human genome sequencing in health and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Mapping copy number variation by population-scale genome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Social and ethical implications of BRCA testing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Detection of clinically relevant exonic copy-number changes by array CGH.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Clinical assessment incorporating a personal genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Direct to consumer genetic testing: Avoiding a culture war

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

The current landscape for direct-to-consumer genetic testing: legal, ethical, and policy issues

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Understanding incidental findings in the context of genetics and genomics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Managing incidental findings in human subjects research: analysis and recommendations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Molecular characterisation of Duchenne muscular dystrophy and phenotypic correlation

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2012.95

Next-generation DNA sequencing, regulation, and the limits of paternalism: the next challenge

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3705759

Does autosomal dominant pseudoxanthoma elasticum exist?

20 October 2018

1 reference

12 December 2020

Structural variation in the human genome

1 reference

12 December 2020

Concise handbook of familial cancer susceptibility syndromes - second edition

1 reference

12 December 2020

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH

1 reference

12 December 2020

Identifiers

DOI

10.1038/GIM.2012.95

1 reference

Dimensions Publication ID

17 August 2017

0 references

1 reference

17 August 2017

PubMed publication ID

22878507

1 reference