Recessive genetic contribution to congenital heart disease in 5,424 probands

Dong, W., Jin, S. C., Sierant, M. C., Lu, Z., Li, B., Lu, Q., Morton, S. U., Zhang, J., López-Giráldez, F., Nelson-Williams, C., Knight, J. R., Zhao, H., Cao, J., Mane, S., Gruber, P. J., Lek, M., Goldmuntz, E., Deanfield, J., Giardini, A., … Brueckner, M. (2025). Recessive genetic contribution to congenital heart disease in 5,424 probands. Proceedings of the National Academy of Sciences, 122(10). https://doi.org/10.1073/pnas.2419992122
Authors:
Weilai Dong
Sheng Chih Jin
Michael C Sierant
Ziyu Lu
Boyang Li
Qiongshi Lu
Sarah U Morton
Junhui Zhang
Francesc López-Giráldez
Carol Nelson-Williams
James R Knight
Hongyu Zhao
Junyue Cao
Shrikant Mane
Peter J Gruber
Monkol Lek
Elizabeth Goldmuntz
John Deanfield
Alessandro Giardini
Seema Mital
Mark Russell
J William Gaynor
James F Cnota
Michael Wagner
Deepak Srivastava
Daniel Bernstein
George A Porter
Jane Newburger
Amy E Roberts
Mark Yandell
H Joseph Yost
Martin Tristani-Firouzi
Richard Kim
Jonathan Seidman
Wendy K Chung
Bruce D Gelb
Christine E Seidman
Richard P Lifton
Martina Brueckner
Affiliated Authors:
Wendy K Chung
Columbia Affiliation:
Subjects:
Molecular Mechanisms of Cardiac Development and Regeneration (OpenAlex Topic)
Epidemiology and Management of Congenital Heart Disease (OpenAlex Topic)
Recommendations for Cardiac Chamber Quantification by Echocardiography (OpenAlex Topic)
Heart Defects, Congenital (MeSH)
Genes, Recessive (MeSH)
Author Keywords:
genomics
congenital heart disease
exome-sequencing
human genetics
elink
Publication Type:
Article
Unique ID:
10.1073/pnas.2419992122
PMID:
40030011
DOI:
10.1073/pnas.2419992122
Journal:
Proceedings of the National Academy of Sciences of the United States of America
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created: