De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
About this item
Full title
Author / Creator
Homsy, Jason , Zaidi, Samir , Shen, Yufeng , Ware, James S. , Samocha, Kaitlin E. , Karczewski, Konrad J. , DePalma, Steven R. , McKean, David , Wakimoto, Hiroko , Gorham, Josh , Jin, Sheng Chih , Deanfield, John , Giardini, Alessandro , Porter, George A. , Kim, Richard , Bilguvar, Kaya , López-Giráldez, Francesc , Tikhonova, Irina , Mane, Shrikant , Romano-Adesman, Angela , Qi, Hongjian , Vardarajan, Badri , Ma, Lijiang , Daly, Mark , Roberts, Amy E. , Russell, Mark W. , Mital, Seema , Newburger, Jane W. , Gaynor, J. William , Breitbart, Roger E. , Iossifov, Ivan , Ronemus, Michael , Sanders, Stephan J. , Kaltman, Jonathan R. , Seidman, Jonathan G. , Brueckner, Martina , Gelb, Bruce D. , Goldmuntz, Elizabeth , Lifton, Richard P. , Seidman, Christine E. and Chung, Wendy K.
Publisher
United States: American Association for the Advancement of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Association for the Advancement of Science
Subjects
More information
Scope and Contents
Contents
Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in the developing heart and brain. Th...
Alternative Titles
Full title
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Authors, Artists and Contributors
Author / Creator
Zaidi, Samir
Shen, Yufeng
Ware, James S.
Samocha, Kaitlin E.
Karczewski, Konrad J.
DePalma, Steven R.
McKean, David
Wakimoto, Hiroko
Gorham, Josh
Jin, Sheng Chih
Deanfield, John
Giardini, Alessandro
Porter, George A.
Kim, Richard
Bilguvar, Kaya
López-Giráldez, Francesc
Tikhonova, Irina
Mane, Shrikant
Romano-Adesman, Angela
Qi, Hongjian
Vardarajan, Badri
Ma, Lijiang
Daly, Mark
Roberts, Amy E.
Russell, Mark W.
Mital, Seema
Newburger, Jane W.
Gaynor, J. William
Breitbart, Roger E.
Iossifov, Ivan
Ronemus, Michael
Sanders, Stephan J.
Kaltman, Jonathan R.
Seidman, Jonathan G.
Brueckner, Martina
Gelb, Bruce D.
Goldmuntz, Elizabeth
Lifton, Richard P.
Seidman, Christine E.
Chung, Wendy K.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1825555692
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1825555692
Other Identifiers
ISSN
0036-8075
E-ISSN
1095-9203
DOI
10.1126/science.aac9396
