De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landsca...
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
About this item
Full title
Author / Creator
Watkins, W. Scott , Hernandez, E. Javier , Wesolowski, Sergiusz , Bisgrove, Brent W. , Sunderland, Ryan T. , Lin, Edwin , Lemmon, Gordon , Demarest, Bradley L. , Miller, Thomas A. , Bernstein, Daniel , Brueckner, Martina , Chung, Wendy K. , Gelb, Bruce D. , Goldmuntz, Elizabeth , Newburger, Jane W. , Seidman, Christine E. , Shen, Yufeng , Yost, H. Joseph , Yandell, Mark and Tristani-Firouzi, Martin
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
The genetic architecture of sporadic congenital heart disease (CHD) is characterized by enrichment in damaging de novo variants in chromatin-modifying genes. To test the hypothesis that gene pathways contributing to de novo forms of CHD are distinct from those for recessive forms, we analyze 2391 whole-exome trios from the Pediatric Cardiac Genomic...
Alternative Titles
Full title
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
Authors, Artists and Contributors
Author / Creator
Hernandez, E. Javier
Wesolowski, Sergiusz
Bisgrove, Brent W.
Sunderland, Ryan T.
Lin, Edwin
Lemmon, Gordon
Demarest, Bradley L.
Miller, Thomas A.
Bernstein, Daniel
Brueckner, Martina
Chung, Wendy K.
Gelb, Bruce D.
Goldmuntz, Elizabeth
Newburger, Jane W.
Seidman, Christine E.
Shen, Yufeng
Yost, H. Joseph
Yandell, Mark
Tristani-Firouzi, Martin
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_8135b5f4cd6b48d3b81b0a72c696e63e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8135b5f4cd6b48d3b81b0a72c696e63e
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-019-12582-y
