Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene

Qiao, L., Xu, L., Yu, L., Wynn, J., Hernan, R., Zhou, X., Farkouh-Karoleski, C., Krishnan, U. S., Khlevner, J., De, A., Zygmunt, A., Crombleholme, T., Lim, F.-Y., Needelman, H., Cusick, R. A., Mychaliska, G. B., Warner, B. W., Wagner, A. J., Danko, M. E., … Chung, W. K. (2021). Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. The American Journal of Human Genetics, 108(10), 1964–1980. https://doi.org/10.1016/j.ajhg.2021.08.011
Authors:
Lu Qiao
Le Xu
Lan Yu
Julia Wynn
Rebecca Hernan
Xueya Zhou
Christiana Farkouh-Karoleski
Usha S. Krishnan
Julie Khlevner
Aliva De
Annette Zygmunt
Timothy Crombleholme
Foong-Yen Lim
Howard Needelman
Robert A. Cusick
George B. Mychaliska
Brad W. Warner
Amy J. Wagner
Melissa E. Danko
Dai Chung
Douglas Potoka
Przemyslaw Kosiński
David J. McCulley
Mahmoud Elfiky
Kenneth Azarow
Elizabeth Fialkowski
David Schindel
Samuel Z. Soffer
Jane B. Lyon
Jill M. Zalieckas
Badri N. Vardarajan
Gudrun Aspelund
Vincent P. Duron
Frances A. High
Xin Sun
Patricia K. Donahoe
Yufeng Shen
Wendy K. Chung
Affiliated Authors:
Lu Qiao
Lan Yu
Julia Wynn
Rebecca Hernan
Xueya Zhou
Christiana Farkouh-Karoleski
Usha S. Krishnan
Julie Khlevner
Aliva De
Annette Zygmunt
Badri N. Vardarajan
Gudrun Aspelund
Vincent P. Duron
Yufeng Shen
Wendy K. Chung
Columbia Affiliation:
Author Keywords:
alyref
congenital diaphragmatic hernia
de novo variants
lonp1
elink
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2021.08.011
PMID:
34547244
DOI:
10.1016/j.ajhg.2021.08.011
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View Web of Science Record

Record Created: