Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decade...
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
About this item
Full title
Author / Creator
Mazzarotto, Francesco , Girolami, Francesca , Boschi, Beatrice , Barlocco, Fausto , Tomberli, Alessia , Baldini, Katia , Coppini, Raffaele , Tanini, Ilaria , Bardi, Sara , Contini, Elisa , Cecchi, Franco , Pelo, Elisabetta , Cook, Stuart A. , Cerbai, Elisabetta , Poggesi, Corrado , Torricelli, Francesca , Walsh, Roddy and Olivotto, Iacopo
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Genetic testing in hypertrophic cardiomyopathy (HCM) has long relied on Sanger sequencing of sarcomeric genes. The advent of next-generation sequencing (NGS) has catalyzed routine testing of additional genes of dubious HCM-causing potential. We used 19 years of genetic testing results to define a reliable set of genes implicated in Mende...
Alternative Titles
Full title
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
Authors, Artists and Contributors
Author / Creator
Girolami, Francesca
Boschi, Beatrice
Barlocco, Fausto
Tomberli, Alessia
Baldini, Katia
Coppini, Raffaele
Tanini, Ilaria
Bardi, Sara
Contini, Elisa
Cecchi, Franco
Pelo, Elisabetta
Cook, Stuart A.
Cerbai, Elisabetta
Poggesi, Corrado
Torricelli, Francesca
Walsh, Roddy
Olivotto, Iacopo
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752309
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752309
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0046-0
