(Q43962585)

28 November 2017

title

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing (English)

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28 November 2017

main subject

dilated cardiomyopathy

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5

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28 November 2017

14

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15

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28 November 2017

Elizabeth Hynes

4

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Trevor J Pugh

object named as

Trevor J Pugh

1

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author name string

Melissa A Kelly

2

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28 November 2017

Sivakumar Gowrisankar

3

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28 November 2017

Samantha M Baxter

6

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28 November 2017

Mark Bowser

7

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28 November 2017

Bryan Harrison

8

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28 November 2017

Daniel Aaron

9

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28 November 2017

Lisa M Mahanta

10

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28 November 2017

Neal K Lakdawala

11

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28 November 2017

Gregory McDermott

12

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28 November 2017

Emily T White

13

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28 November 2017

Birgit H Funke

16

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28 November 2017

language of work or name

English

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publication date

6 February 2014

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28 November 2017

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28 November 2017

volume

16

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28 November 2017

issue

8

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28 November 2017

page(s)

601-608

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Clinical and genetic issues in familial dilated cardiomyopathy

28 November 2017

cites work

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https://api.crossref.org/works/10.1038%2FGIM.2013.204

Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Rapid, scalable and highly automated HLA genotyping using next-generation sequencing: a transition from research to diagnostics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

A novel custom resequencing array for dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Truncations of titin causing dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2013.204

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Genetic testing for dilated cardiomyopathy in clinical practice

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2013.204

Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Cardiac-myocyte-specific excision of the vinculin gene disrupts cellular junctions, causing sudden death or dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Dilated-hypokinetic evolution of hypertrophic cardiomyopathy: prevalence, incidence, risk factors, and prognostic implications in pediatric and adult patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2013.204

21 January 2018

Dilated cardiomyopathy

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https://api.crossref.org/works/10.1038%2FGIM.2013.204

7 January 2021

Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

7 January 2021

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

7 January 2021

A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.204

7 January 2021

Identifiers

DOI

10.1038/GIM.2013.204

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Dimensions Publication ID

28 November 2017

1052857482

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Microsoft Academic ID

1967476238

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