De novo mutations in histone-modifying genes in congenital heart disease
De novo mutations in histone-modifying genes in congenital heart disease
About this item
Full title
Author / Creator
Zaidi, Samir , Choi, Murim , Wakimoto, Hiroko , Ma, Lijiang , Jiang, Jianming , Overton, John D. , Romano-Adesman, Angela , Bjornson, Robert D. , Breitbart, Roger E. , Brown, Kerry K. , Carriero, Nicholas J. , Cheung, Yee Him , Deanfield, John , DePalma, Steve , Fakhro, Khalid A. , Glessner, Joseph , Hakonarson, Hakon , Italia, Michael J. , Kaltman, Jonathan R. , Kaski, Juan , Kim, Richard , Kline, Jennie K. , Lee, Teresa , Leipzig, Jeremy , Lopez, Alexander , Mane, Shrikant M. , Mitchell, Laura E. , Newburger, Jane W. , Parfenov, Michael , Pe’er, Itsik , Porter, George , Roberts, Amy E. , Sachidanandam, Ravi , Sanders, Stephan J. , Seiden, Howard S. , State, Mathew W. , Subramanian, Sailakshmi , Tikhonova, Irina R. , Wang, Wei , Warburton, Dorothy , White, Peter S. , Williams, Ismee A. , Zhao, Hongyu , Seidman, Jonathan G. , Brueckner, Martina , Chung, Wendy K. , Gelb, Bruce D. , Goldmuntz, Elizabeth , Seidman, Christine E. and Lifton, Richard P.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Exome sequencing of patients with congenital heart disease (CHD) and their unaffected parents reveals an excess of strong-effect, protein-altering
de novo
mutations in genes expressed in the developing heart, many of which regulate chromatin modification in key developmental genes; collectively, these mutations are predicted to account for ap...
Alternative Titles
Full title
De novo mutations in histone-modifying genes in congenital heart disease
Authors, Artists and Contributors
Author / Creator
Choi, Murim
Wakimoto, Hiroko
Ma, Lijiang
Jiang, Jianming
Overton, John D.
Romano-Adesman, Angela
Bjornson, Robert D.
Breitbart, Roger E.
Brown, Kerry K.
Carriero, Nicholas J.
Cheung, Yee Him
Deanfield, John
DePalma, Steve
Fakhro, Khalid A.
Glessner, Joseph
Hakonarson, Hakon
Italia, Michael J.
Kaltman, Jonathan R.
Kaski, Juan
Kim, Richard
Kline, Jennie K.
Lee, Teresa
Leipzig, Jeremy
Lopez, Alexander
Mane, Shrikant M.
Mitchell, Laura E.
Newburger, Jane W.
Parfenov, Michael
Pe’er, Itsik
Porter, George
Roberts, Amy E.
Sachidanandam, Ravi
Sanders, Stephan J.
Seiden, Howard S.
State, Mathew W.
Subramanian, Sailakshmi
Tikhonova, Irina R.
Wang, Wei
Warburton, Dorothy
White, Peter S.
Williams, Ismee A.
Zhao, Hongyu
Seidman, Jonathan G.
Brueckner, Martina
Chung, Wendy K.
Gelb, Bruce D.
Goldmuntz, Elizabeth
Seidman, Christine E.
Lifton, Richard P.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3706629
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3706629
Other Identifiers
ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/nature12141
