(Q48278534)

10 February 2018

http://europepmc.org/abstract/MED/26681313

title

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification (English)

1 reference

10 February 2018

http://europepmc.org/abstract/MED/26681313

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Sabrina A Gardner

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Hayk Hovhannisyan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Amanda Natalizio

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ildiko Thibodeau

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ekaterina Bogdanova

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Alecia Willis

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Narasimhan Nagan

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Katelyn S Weymouth

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Wenjie Chen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Stanley Letovsky

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

language of work or name

English

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publication date

17 December 2015

1 reference

10 February 2018

http://europepmc.org/abstract/MED/26681313

published in

Genetics in Medicine

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

850-854

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26681313%20AND%20SRC:MED&resulttype=core&format=json

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

9 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

Disease gene identification strategies for exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

A systematic approach to assessing the clinical significance of genetic variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

Cystic fibrosis carrier testing in an ethnically diverse US population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

An integrated map of genetic variation from 1,092 human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

Familial mediterranean Fever in the world

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

Compound mutations: a common cause of severe long-QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

Milestones of Lynch syndrome: 1895-2015.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.180

Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing

21 January 2018

1 reference

12 December 2020

The genetic attributable risk of breast and ovarian cancer

1 reference

12 December 2020

Hemoglobinopathies: clinical manifestations, diagnosis, and treatment

1 reference

12 December 2020

Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based case-control studies of ovarian cancer

1 reference

12 December 2020