Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

Sierant, M. C., Jin, S. C., Bilguvar, K., Morton, S. U., Dong, W., Jiang, W., Lu, Z., Li, B., López-Giráldez, F., Tikhonova, I., Zeng, X., Lu, Q., Choi, J., Zhang, J., Nelson-Williams, C., Knight, J. R., Zhao, H., Cao, J., Mane, S., … Lifton, R. P. (2025). Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings of the National Academy of Sciences, 122(13). https://doi.org/10.1073/pnas.2420343122
Authors:
Michael C Sierant
Sheng Chih Jin
Kaya Bilguvar
Sarah U Morton
Weilai Dong
Wei Jiang
Ziyu Lu
Boyang Li
Francesc López-Giráldez
Irina Tikhonova
Xue Zeng
Qiongshi Lu
Jungmin Choi
Junhui Zhang
Carol Nelson-Williams
James R Knight
Hongyu Zhao
Junyue Cao
Shrikant Mane
Stanley C Sedore
Peter J Gruber
Monkol Lek
Elizabeth Goldmuntz
John Deanfield
Alessandro Giardini
Seema Mital
Mark Russell
J William Gaynor
Eileen King
Michael Wagner
Deepak Srivastava
Yufeng Shen
Daniel Bernstein
George A Porter
Jane W Newburger
Jonathan G Seidman
Amy E Roberts
Mark Yandell
H Joseph Yost
Martin Tristani-Firouzi
Richard Kim
Wendy K Chung
Bruce D Gelb
Christine E Seidman
Martina Brueckner
Richard P Lifton
Affiliated Authors:
Yufeng Shen
Wendy K Chung
Columbia Affiliation:
Subjects:
Molecular Mechanisms of Cardiac Development and Regeneration (OpenAlex Topic)
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Epidemiology and Management of Congenital Heart Disease (OpenAlex Topic)
Heart Defects, Congenital (MeSH)
Author Keywords:
congenital heart disease
exome sequencing
genomics
human genetics
molecular inversion probes
elink
Publication Type:
Article
Unique ID:
10.1073/pnas.2420343122
PMID:
40127276
DOI:
10.1073/pnas.2420343122
Journal:
Proceedings of the National Academy of Sciences of the United States of America
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View OpenAlex Record

Record Created: