Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy (Q47286401)

13 January 2018

http://europepmc.org/abstract/MED/29255176

title

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy (English)

1 reference

13 January 2018

http://europepmc.org/abstract/MED/29255176

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13 June 2020

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13 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29255176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29255176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Cuno Kuiperi

1 reference

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13 June 2020

Jeroen Breckpot

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29255176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Erika Souche

1 reference

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13 June 2020

Johan Van Cleemput

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29255176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Dieter Nuyens

1 reference

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13 June 2020

Anniek Corveleyn

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13 June 2020

publication date

10 October 2017

1 reference

13 January 2018

http://europepmc.org/abstract/MED/29255176

published in

European Journal of Human Genetics

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13 June 2020

volume

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13 June 2020

issue

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13 June 2020

page(s)

1313-1323

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29255176%20AND%20SRC:MED&resulttype=core&format=json

Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals

13 June 2020

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26 August 2018

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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

26 August 2018

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Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

26 August 2018

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26 August 2018

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Relevance of truncating titin mutations in dilated cardiomyopathy.

26 August 2018

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Targeted capture sequencing in a large LQTS family reveals a new pathogenic mutation c.2038delG in KCNH2 initially missed due to allelic dropout.

26 August 2018

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26 August 2018

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26 August 2018

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Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel

26 August 2018

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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

26 August 2018

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2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

26 August 2018

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Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction

26 August 2018

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Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

26 August 2018

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Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes

26 August 2018

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Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience.

26 August 2018

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Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome

26 August 2018

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Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

26 August 2018

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Copy number variation detection and genotyping from exome sequence data

26 August 2018

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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).

26 August 2018

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Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process

26 August 2018

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Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

26 August 2018

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Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

26 August 2018

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Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy

26 August 2018

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Prevalence and Spectrum of Large Deletions or Duplications in the Major Long QT Syndrome-Susceptibility Genes and Implications for Long QT Syndrome Genetic Testing

26 August 2018

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An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

26 August 2018

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Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test

26 August 2018

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Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

26 August 2018

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Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features

26 August 2018

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Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies.

26 August 2018

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Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

26 August 2018

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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

26 August 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41431-017-0004-3

Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience

21 January 2018

1 reference

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Myotonic dystrophy: time for evidence-based therapy

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Repeat long QT syndrome genetic testing of phenotype-positive cases: prevalence and etiology of detection misses

1 reference

https://api.crossref.org/works/10.1038%2FS41431-017-0004-3

inferred from DOI database lookup

7 January 2021

based on heuristic

Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes

1 reference

https://api.crossref.org/works/10.1038%2FS41431-017-0004-3

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/S41431-017-0004-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29255176%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29255176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference

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