(Q43465188)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json

hypertrophic cardiomyopathy

27 February 2020

main subject

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Richard D Bagnall

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Christopher Semsarian

series ordinal

4

object named as

Christopher Semsarian

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

author name string

Jipin Das K

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

language of work or name

English

0 references

publication date

10 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

page(s)

286-293

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2013.138

27 February 2020

exact match

0 references

cites work

The Genetic Basis for Cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Amino acid difference formula to help explain protein evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Hypertrophic cardiomyopathy: a systematic review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

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.2013.138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Population-based variation in cardiomyopathy genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

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.2013.138

Sudden cardiac death in the young: a clinical genetic approach.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

7 January 2021

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

7 January 2021

Sudden death in young athletes. Lessons from the Hank Gathers affair

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

7 January 2021

Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

7 January 2021

Yield of genetic testing in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

7 January 2021

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

7 January 2021

The emerging role of the cardiac genetic counselor

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

7 January 2021

Clinical challenges of genotype positive (+)-phenotype negative (-) family members in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

7 January 2021

Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

7 January 2021

Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.138

7 January 2021

Identifiers

DOI

10.1038/GIM.2013.138

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

27 February 2020

1047759942

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24113344%20AND%20SRC:MED&resulttype=core&format=json