Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

Hardcastle, A., Berry, A. M., Campbell, I. M., Zhao, X., Liu, P., Gerard, A. E., Rosenfeld, J. A., Sisoudiya, S. D., Hernandez‐Garcia, A., Loddo, S., Di Tommaso, S., Novelli, A., Dentici, M. L., Capolino, R., Digilio, M. C., Graziani, L., Rustad, C. F., Neas, K., Ferrero, G. B., … Scott, D. A. (2022). Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. American Journal of Medical Genetics Part A, 188(10), 2958–2968. Portico. https://doi.org/10.1002/ajmg.a.62919
Authors:
Amy Hardcastle
Aliska M Berry
Ian M Campbell
Xiaonan Zhao
Pengfei Liu
Amanda E Gerard
Jill A Rosenfeld
Saumya D Sisoudiya
Andres Hernandez-Garcia
Sara Loddo
Silvia Di Tommaso
Antonio Novelli
Maria L Dentici
Rossella Capolino
Maria C Digilio
Ludovico Graziani
Cecilie F Rustad
Katherine Neas
Giovanni B Ferrero
Alfredo Brusco
Eleonora Di Gregorio
Diana Wellesley
Claire Beneteau
Madeleine Joubert
Kris Van Den Bogaert
Anneleen Boogaerts
Dominic J McMullan
John Dean
Maria G Giuffrida
Laura Bernardini
Vinod Varghese
Nora L Shannon
Rachel E Harrison
Wayne W K Lam
Shane McKee
Peter D Turnpenny
Trevor Cole
Jenny Morton
Jacqueline Eason
Marilyn C Jones
Rebecca Hall
Michael Wright
Karen Horridge
Chad A Shaw
Wendy K Chung
Daryl A Scott
Affiliated Authors:
Wendy K Chung
Columbia Affiliation:
Subjects:
Hernias, Diaphragmatic, Congenital (MeSH)
Author Keywords:
congenital diaphragmatic hernia
crebbp
decipher database
smarca4
uba2
usp9x
elink
Publication Type:
Article
Unique ID:
10.1002/ajmg.a.62919
PMID:
35904974
DOI:
10.1002/ajmg.a.62919
Journal:
American Journal of Medical Genetics, Part A
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Web of Science Record

Record Created: