A validated heart-specific model for splice-disrupting variants in childhood heart disease
A validated heart-specific model for splice-disrupting variants in childhood heart disease
About this item
Full title
Author / Creator
Lesurf, Robert , Breckpot, Jeroen , Bouwmeester, Jade , Hanafi, Nour , Jain, Anjali , Liang, Yijing , Papaz, Tanya , Lougheed, Jane , Mondal, Tapas , Alsalehi, Mahmoud , Altamirano-Diaz, Luis , Oechslin, Erwin , Audain, Enrique , Dombrowsky, Gregor , Postma, Alex V , Woudstra, Odilia I , Bouma, Berto J , Hitz, Marc-Phillip , Bezzina, Connie R , Blue, Gillian M , Winlaw, David S and Mital, Seema
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Congenital heart disease (CHD) is the most common congenital anomaly. Almost 90% of isolated cases have an unexplained genetic etiology after clinical testing. Non-canonical splice variants that disrupt mRNA splicing through the loss or creation of exon boundaries are not routinely captured and/or evaluated by standard clinical genetic tests. Recen...
Alternative Titles
Full title
A validated heart-specific model for splice-disrupting variants in childhood heart disease
Authors, Artists and Contributors
Author / Creator
Breckpot, Jeroen
Bouwmeester, Jade
Hanafi, Nour
Jain, Anjali
Liang, Yijing
Papaz, Tanya
Lougheed, Jane
Mondal, Tapas
Alsalehi, Mahmoud
Altamirano-Diaz, Luis
Oechslin, Erwin
Audain, Enrique
Dombrowsky, Gregor
Postma, Alex V
Woudstra, Odilia I
Bouma, Berto J
Hitz, Marc-Phillip
Bezzina, Connie R
Blue, Gillian M
Winlaw, David S
Mital, Seema
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_1d371c4ddd2340898e94f229a04d496b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1d371c4ddd2340898e94f229a04d496b
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-024-01383-8
