(Q37424109)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

Hugh Christian Watkins

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Roddy Walsh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Kate Thomson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

James Ware

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Birgit H Funke

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Francesco Mazzarotto

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Jenny Taylor

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Martin Farrall

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

author name string

Jessica Woodley

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Karen J McGuire

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Edward Blair

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Anneke Seller

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Exome Aggregation Consortium

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Daniel G MacArthur

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Stuart A Cook

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Eric V Minikel

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

language of work or name

English

0 references

publication date

17 August 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

192-203

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2016.90

21 March 2020

exact match

0 references

cites work

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

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New perspectives on the prevalence of hypertrophic cardiomyopathy

23 August 2017

1 reference

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Genetic advances in sarcomeric cardiomyopathies: state of the art.

23 August 2017

1 reference

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Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

23 August 2017

1 reference

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Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

23 August 2017

1 reference

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Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy

23 August 2017

1 reference

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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).

23 August 2017

1 reference

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Atlas of the clinical genetics of human dilated cardiomyopathy

23 August 2017

1 reference

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Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

Genetic mutations and mechanisms in dilated cardiomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

Truncations of titin causing dilated cardiomyopathy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

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).

23 August 2017

1 reference

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Update 2011: clinical and genetic issues in familial dilated cardiomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy

23 August 2017

1 reference

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Statistical method on nonrandom clustering with application to somatic mutations in cancer

23 August 2017

1 reference

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

23 August 2017

1 reference

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Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy

23 August 2017

1 reference

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Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

23 August 2017

1 reference

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Natural selection on genes that underlie human disease susceptibility

23 August 2017

1 reference

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Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy

23 August 2017

1 reference

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

23 August 2017

1 reference

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Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy

23 August 2017

1 reference

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First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy

23 August 2017

1 reference

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Attributable risk percent in case-control studies

23 August 2017

1 reference

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Conceptual problems in the definition and interpretation of attributable fractions

23 August 2017

1 reference

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Estimability and estimation of excess and etiologic fractions

23 August 2017

1 reference

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

Inherited Cardiomyopathies

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5116235

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy

2 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27532257

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Myotonic dystrophy: time for evidence-based therapy

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2016.90

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/GIM.2016.90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

27532257

1 reference