(Q41543943)

English

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

scientific article published on 22 January 2015

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28 February 2020

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity (English)

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28 February 2020

hypertrophic cardiomyopathy

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CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

1 reference

10.1038/GIM.2015.16

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/GIM.2015.16

Melissa A Kelly

2

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28 February 2020

5

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28 February 2020

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28 February 2020

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28 February 2020

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28 February 2020

Jonathan G Seidman

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J G Seidman

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28 February 2020

Christine E. Seidman

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Christine E Seidman

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28 February 2020

Steven R DePalma

12

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Steven R DePalma

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28 February 2020

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Birgit H Funke

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28 February 2020

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Ahmed A Alfares

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28 February 2020

Stephanie J Cox

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Stephanie W Cox

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28 February 2020

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Gregory McDermott

3

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28 February 2020

Samantha B Baxter

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28 February 2020

Heather M McLaughlin

8

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28 February 2020

Eugene H Clark

9

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28 February 2020

Larry J Babb

10

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28 February 2020

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publication date

22 January 2015

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28 February 2020

Genetics in Medicine

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28 February 2020

17

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28 February 2020

11

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28 February 2020

880-888

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28 February 2020

https://scigraph.springernature.com/pub.10.1038/gim.2014.205

0 references

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

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21 January 2018

Hypertrophic cardiomyopathy: a systematic review

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21 January 2018

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

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21 January 2018

Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey.

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21 January 2018

Fabry disease: overall effects of agalsidase alfa treatment

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21 January 2018

Danon disease: focusing on heart

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https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Familial Wolff-Parkinson-White Syndrome: a disease of glycogen storage or ion channel dysfunction?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

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

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https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

ClinVar: public archive of relationships among sequence variation and human phenotype

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https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Shared genetic causes of cardiac hypertrophy in children and adults

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late‐onset Fabry mutation (IVS4 + 919G→A)

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

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https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives

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https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Communicating new knowledge on previously reported genetic variants

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

21 January 2018

Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations

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21 January 2018

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

7 January 2021

based on heuristic

inferred from DOI database lookup

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

7 January 2021

based on heuristic

inferred from DOI database lookup

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.205

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/GIM.2014.205

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25611685%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

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1 reference

Europe PubMed Central

PubMed publication ID

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28 February 2020

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