(Q38088719)

28 August 2017

title

New clinical molecular diagnostic methods for congenital and inherited heart disease (English)

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28 August 2017

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Jan Dh Jongbloed

1

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28 August 2017

Anna Pósafalvi

2

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28 August 2017

Wilhelmina S Kerstjens-Frederikse

3

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28 August 2017

Richard J Sinke

4

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28 August 2017

J Peter van Tintelen

5

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28 August 2017

language of work or name

English

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publication date

8 December 2010

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Expert Opinion on Medical Diagnostics

28 August 2017

published in

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28 August 2017

volume

5

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28 August 2017

issue

1

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28 August 2017

page(s)

9-24

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28 August 2017

cites work

Familial cardiomegaly

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

The congenital long QT syndromes from genotype to phenotype: clinical implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Genetic factors in non-syndromic congenital heart malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Predictors of pregnancy complications in women with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Multiple mutations in genetic cardiovascular disease: a marker of disease severity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Genetics and cardiac channelopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

DNA sequencing: bench to bedside and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

The genetic basis for cardiac remodeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

A novel custom resequencing array for dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

The complete genome of an individual by massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Next-generation DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Next-generation DNA sequencing methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Sequencing technologies - the next generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Clinical assessment incorporating a personal genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

The Sequence of the Human Genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Genome-wide in situ exon capture for selective resequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Massively parallel sequencing of ataxia genes after array-based enrichment

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Microdroplet-based PCR enrichment for large-scale targeted sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Targeted high-throughput sequencing of tagged nucleic acid samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

A pyrosequencing-tailored nucleotide barcode design unveils opportunities for large-scale sample multiplexing

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Sensitive and accurate detection of copy number variants using read depth of coverage

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Personalized copy number and segmental duplication maps using next-generation sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

ChIP-Seq identification of weakly conserved heart enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

RNA-seq: an assessment of technical reproducibility and comparison with gene expression arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Gene expression profiling by massively parallel sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Semi-automated library preparation for high-throughput DNA sequencing platforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Estimating the number of unseen variants in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Detection of nonneutral substitution rates on mammalian phylogenies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Automated inference of molecular mechanisms of disease from amino acid substitutions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Manipulation of FASTQ data with Galaxy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

International genome project launched.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Keeping up with the next generation: massively parallel sequencing in clinical diagnostics

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

Defining the pathogenicity of DNA sequence variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

DNA analysis in inherited cardiomyopathies: current status and clinical relevance

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2011.540566

10.1517/17530059.2011.540566

21 January 2018

Identifiers

DOI

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release_rumsnjexpzfaxjdampc6d42dg4

28 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/rumsnjexpzfaxjdampc6d42dg4

mapped directly with Wikidata item

24 November 2022

based on heuristic

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