Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., Fradin, M., Wang, T., Kurtz-Nelson, E. C., Ahlers, K. P., Arts, P., Barnett, C. P., Ashfaq, M., Baban, A., van den Born, M., Borrie, S., Busa, T., Byrne, A., Carriero, M., … Santen, G. W. E. (2022). Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in Medicine, 24(8), 1753–1760. https://doi.org/10.1016/j.gim.2022.04.010
Authors:
Pleuntje J. van der Sluijs
Marieke Joosten
Caroline Alby
Tania Attié-Bitach
Kelly Gilmore
Christele Dubourg
Mélanie Fradin
Tianyun Wang
Evangeline C. Kurtz-Nelson
Kaitlyn P. Ahlers
Peer Arts
Christopher P. Barnett
Myla Ashfaq
Anwar Baban
Myrthe van den Born
Sarah Borrie
Tiffany Busa
Alicia Byrne
Miriam Carriero
Claudia Cesario
Karen Chong
Anna Maria Cueto-González
Jennifer C. Dempsey
Karin E.M. Diderich
Dan Doherty
Stense Farholt
Erica H. Gerkes
Svetlana Gorokhova
Lutgarde C.P. Govaerts
Pernille A. Gregersen
Scott E. Hickey
Mathilde Lefebvre
Francesca Mari
Jelena Martinovic
Hope Northrup
Melanie O'Leary
Kareesma Parbhoo
Sophie Patrier
Bernt Popp
Fernando Santos-Simarro
Corinna Stoltenburg
Christel Thauvin-Robinet
Elisabeth Thompson
Anneke T. Vulto-van Silfhout
Farah R. Zahir
Hamish S. Scott
Rachel K. Earl
Evan E. Eichler
Neeta L. Vora
Yael Wilnai
Jessica L. Giordano
Ronald J. Wapner
Jill A. Rosenfeld
Monique C. Haak
Gijs W.E. Santen
Affiliated Authors:
Jessica L. Giordano
Ronald J. Wapner
Columbia Affiliation:
Subjects:
Hand Deformities, Congenital (MeSH)
Intellectual Disability (MeSH)
Micrognathism (MeSH)
Chromatin Remodeling in Cancer and Development (OpenAlex Topic)
Protein Arginine Methylation in Mammals (OpenAlex Topic)
Role of Fibroblast Activation in Cancer Progression (OpenAlex Topic)
Author Keywords:
arid1a
arid1b bafopathy
baf-complex
fetal
smarca4
smarcb1
elink
Publication Type:
Article
Unique ID:
10.1016/j.gim.2022.04.010
PMID:
35579625
DOI:
10.1016/j.gim.2022.04.010
Journal:
Genetics in Medicine
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View Web of Science Record
View OpenAlex Record
View PubMed Record

Record Created: