The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing (Q43962585)

28 November 2017

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

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28 November 2017

dilated cardiomyopathy

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5

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14

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Elizabeth Hynes

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Trevor J Pugh

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Trevor J Pugh

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author name string

Melissa A Kelly

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Sivakumar Gowrisankar

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Samantha M Baxter

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Mark Bowser

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Bryan Harrison

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Daniel Aaron

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Lisa M Mahanta

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Neal K Lakdawala

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Gregory McDermott

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Emily T White

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Birgit H Funke

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language of work or name

English

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publication date

6 February 2014

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601-608

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8

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https://scigraph.springernature.com/pub.10.1038/gim.2013.204

28 November 2017

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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).

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

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A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy

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

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

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

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

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

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A novel custom resequencing array for dilated cardiomyopathy

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

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

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

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

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Truncations of titin causing dilated cardiomyopathy.

21 January 2018

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

21 January 2018

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

21 January 2018

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Genetic testing for dilated cardiomyopathy in clinical practice

21 January 2018

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Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

21 January 2018

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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

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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

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7 January 2021

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

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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

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