(Q89014427)

English

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

scientific article published on 06 June 2018

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29875424%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29875424%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

hypertrophic cardiomyopathy

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Francesco Mazzarotto

1

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30 March 2020

Elisabetta Cerbai

14

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30 March 2020

17

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30 March 2020

author name string

Francesca Girolami

2

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30 March 2020

Beatrice Boschi

3

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30 March 2020

Fausto Barlocco

4

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30 March 2020

Alessia Tomberli

5

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30 March 2020

Katia Baldini

6

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30 March 2020

Raffaele Coppini

7

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30 March 2020

Ilaria Tanini

8

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30 March 2020

Sara Bardi

9

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30 March 2020

Elisa Contini

10

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30 March 2020

Franco Cecchi

11

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30 March 2020

Elisabetta Pelo

12

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30 March 2020

Stuart A Cook

13

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30 March 2020

Corrado Poggesi

15

1 reference

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30 March 2020

Francesca Torricelli

16

1 reference

Europe PubMed Central

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30 March 2020

Iacopo Olivotto

18

1 reference

Europe PubMed Central

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30 March 2020

publication date

6 June 2018

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30 March 2020

Genetics in Medicine

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29875424%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

21

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Europe PubMed Central

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30 March 2020

2

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30 March 2020

284-292

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29875424%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

2014 ESC guidelines on the diagnosis and management of acute pulmonary embolism

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetics of inherited cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Mimics of Hypertrophic Cardiomyopathy - Diagnostic Clues to Aid Early Identification of Phenocopies

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Using high-resolution variant frequencies to empower clinical genome interpretation.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

ClinGen--the Clinical Genome Resource

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0046-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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).

1 reference

https://pubmed.ncbi.nlm.nih.gov/29875424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29875424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29875424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29875424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/S41436-018-0046-0

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29875424%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29875424%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29875424%20AND%20SRC:MED&resulttype=core&format=json

30 March 2020

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