Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Bosch, E., Popp, B., Güse, E., Skinner, C., van der Sluijs, P. J., Maystadt, I., Pinto, A. M., Renieri, A., Bruno, L. P., Granata, S., Marcelis, C., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., … Vasileiou, G. (2023). Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genetics in Medicine, 25(11), 100950. https://doi.org/10.1016/j.gim.2023.100950
Authors:
Elisabeth Bosch
Bernt Popp
Esther Güse
Cindy Skinner
Pleuntje J. van der Sluijs
Isabelle Maystadt
Anna Maria Pinto
Alessandra Renieri
Lucia Pia Bruno
Stefania Granata
Carlo Marcelis
Özlem Baysal
Dewi Hartwich
Laura Holthöfer
Bertrand Isidor
Benjamin Cogné
Dagmar Wieczorek
Valeria Capra
Marcello Scala
Patrizia De Marco
Marzia Ognibene
Rami Abou Jamra
Konrad Platzer
Lauren B. Carter
Outi Kuismin
Arie van Haeringen
Reza Maroofian
Irene Valenzuela
Ivon Cuscó
Julian A. Martínez‐Agosto
Ahna M. Rabani
Heather C. Mefford
Elaine M. Pereira
Charlotte Close
Kwame Anyane‐Yeboa
Mallory Wagner
Mark Hannibal
Pia Zacher
Isabelle Thiffault
Gea Beunders
Muhammad Umair
Priya T. Bhola
Erin McGinnis
J Gordon Millichap
Jiddeke M. van de Kamp
Eloise J. Prijoles
Amy Dobson
Amelle Shillington
Brett H. Graham
E. Grau Garcia
Maureen Kelly Galindo
Fabienne G. Ropers
Esther Nibbeling
Gail Hubbard
Catherine Karimov
Guido Goj
Renee Bend
Julie Rath
Michelle M. Morrow
Francisca Millan
Vincenzo Salpietro
Annalaura Torella
Vincenzo Nigro
Mitja Kurki
Roger E. Stevenson
Gijs W.E. Santen
Christiane Zweier
Philippe M. Campeau
Mariasavina Severino
André Reis
Andrea Accogli
Georgia Vasileiou
Affiliated Authors:
Elaine M. Pereira
Charlotte Close
Kwame Anyane‐Yeboa
Columbia Affiliation:
Subjects:
Abnormalities, Multiple (MeSH)
Micrognathism (MeSH)
Intellectual Disability (MeSH)
Neurodevelopmental Disorders (MeSH)
Chromatin Remodeling in Cancer and Development (OpenAlex Topic)
Regulation of Chromatin Structure and Function (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Author Keywords:
baf
bafopathy
coffin-siris syndrome
ndd
smarcc2
elink
Publication Type:
Article
Unique ID:
10.1016/j.gim.2023.100950
PMID:
37551667
DOI:
10.1016/j.gim.2023.100950
Journal:
Genetics in Medicine
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record
View PubMed Record
View Scopus Record

Record Created: