(Q36096070)

English

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

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scholarly article

1 reference

Europe PubMed Central

12 August 2017

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes (English)

1 reference

Europe PubMed Central

12 August 2017

Leslie G Biesecker

8

object named as

Leslie G Biesecker

1 reference

Europe PubMed Central

12 August 2017

James C Mullikin

7

object named as

James C Mullikin

1 reference

Europe PubMed Central

12 August 2017

author name string

Jennifer J Johnston

1

1 reference

Europe PubMed Central

12 August 2017

Wendy S Rubinstein

2

1 reference

Europe PubMed Central

12 August 2017

Flavia M Facio

3

1 reference

Europe PubMed Central

12 August 2017

David Ng

4

1 reference

Europe PubMed Central

12 August 2017

Larry N Singh

5

1 reference

Europe PubMed Central

12 August 2017

Jamie K Teer

6

1 reference

Europe PubMed Central

12 August 2017

language of work or name

0 references

publication date

14 June 2012

1 reference

Europe PubMed Central

12 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

12 August 2017

91

1 reference

Europe PubMed Central

12 August 2017

97-108

1 reference

Europe PubMed Central

12 August 2017

1

1 reference

Europe PubMed Central

12 August 2017

Managing incidental findings and research results in genomic research involving biobanks and archived data sets

1 reference

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Taxonomizing, sizing, and overcoming the incidentalome

1 reference

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2 October 2017

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

1 reference

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SDH mutations in cancer

1 reference

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Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

1 reference

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Carrier testing for severe childhood recessive diseases by next-generation sequencing

1 reference

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Disclosure of individual genetic data to research participants: the debate reconsidered

1 reference

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A map of human genome variation from population-scale sequencing

1 reference

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1 reference

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Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

1 reference

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Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality

1 reference

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Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

1 reference

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Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research

1 reference

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Clinical assessment incorporating a personal genome

1 reference

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2 October 2017

Exome sequencing identifies the cause of a mendelian disorder

1 reference

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2 October 2017

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

1 reference

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2 October 2017

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397257

2 October 2017

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397257

2 October 2017

Managing incidental findings in human subjects research: analysis and recommendations

1 reference

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2 October 2017

Research ethics recommendations for whole-genome research: consensus statement

1 reference

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2 October 2017

Recommendations for locus-specific databases and their curation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397257

2 October 2017

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

1 reference

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2 October 2017

Limited family structure and BRCA gene mutation status in single cases of breast cancer

1 reference

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2 October 2017

Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397257

2 October 2017

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3397257

2 October 2017

Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria

1 reference

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2 October 2017

Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene

1 reference

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2 October 2017

dbSNP: the NCBI database of genetic variation

1 reference

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The breast cancer information core: database design, structure, and scope

1 reference

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Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2

1 reference

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2 October 2017

Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer

1 reference

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Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study.

1 reference

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23 September 2018

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

1 reference

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Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out

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23 September 2018

E-cadherin mutations and cell motility: a genotype-phenotype correlation.

1 reference

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Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.

1 reference

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23 September 2018

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

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BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes

1 reference

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The emerging landscape of breast cancer susceptibility

1 reference

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1 reference

https://pubmed.ncbi.nlm.nih.gov/22703879

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based on heuristic

inferred from PubMed ID database lookup

Testing and reporting ACMG cystic fibrosis mutation panel results

1 reference

https://pubmed.ncbi.nlm.nih.gov/22703879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Concise handbook of familial cancer susceptibility syndromes - second edition

1 reference

https://pubmed.ncbi.nlm.nih.gov/22703879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2012.05.021

1 reference

Europe PubMed Central

12 August 2017

1 reference

Europe PubMed Central

12 August 2017

1 reference

Europe PubMed Central

12 August 2017

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