De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

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 wh...

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Detalles Bibliográficos
Autores principales: 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, Tristani-Firouzi, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6797711/
https://www.ncbi.nlm.nih.gov/pubmed/31624253
http://dx.doi.org/10.1038/s41467-019-12582-y

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