Zobrazeno 1 - 2
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pro vyhledávání: '"E. Javier Hernandez"'
Autor:
W. Scott Watkins, E. Javier Hernandez, Sergiusz Wesolowski, Brent W. Bisgrove, Ryan T. Sunderland, Edwin Lin, Gordon Lemmon, Bradley L. Demarest, Thomas A. Miller, Daniel Bernstein, Martina Brueckner, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Jane W. Newburger, Christine E. Seidman, Yufeng Shen, H. Joseph Yost, Mark Yandell, Martin Tristani-Firouzi
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Large whole-exome sequencing studies have suggested that the genetic architecture of syndromic congenital heart disease (CHD) is different from sporadic forms. Here, Watkins et al. estimate the relative contribution of damaging recessive and de novo
Externí odkaz:
https://doaj.org/article/8135b5f4cd6b48d3b81b0a72c696e63e
Autor:
Yufeng Shen, Ryan T. Sunderland, Thomas A. Miller, Wendy K. Chung, Mark Yandell, Bradley L. Demarest, H. Joseph Yost, Martin Tristani-Firouzi, Brent W. Bisgrove, Daniel Bernstein, Sergiusz Wesolowski, Christine E. Seidman, Edwin Lin, W. Scott Watkins, Elizabeth Goldmuntz, Gordon Lemmon, Jane W. Newburger, Martina Brueckner, E. Javier Hernandez, Bruce D. Gelb
Publikováno v:
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebb800efec96a559d8118243cad70ab
https://doi.org/10.1038/s41467-019-12582-y
https://doi.org/10.1038/s41467-019-12582-y