Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Kayumi, S., Pérez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., Kruer, M. C., Kharbanda, M., Amor, D. J., McGillivray, G., Cohen, J. S., García-Miñaúr, S., van Eyk, C. L., Harper, K., Jolly, L. A., Webber, D. L., Barnett, C. P., Santos-Simarro, F., Pacio-Míguez, M., … Corbett, M. A. (2022). Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genetics in Medicine, 24(11), 2351–2366. https://doi.org/10.1016/j.gim.2022.08.006
Authors:
Sayaka Kayumi
Luis A Pérez-Jurado
María Palomares
Sneha Rangu
Sarah E Sheppard
Wendy K Chung
Michael C Kruer
Mira Kharbanda
David J Amor
George McGillivray
Julie S Cohen
Sixto García-Miñaúr
Clare L van Eyk
Kelly Harper
Lachlan A Jolly
Dani L Webber
Christopher P Barnett
Fernando Santos-Simarro
Marta Pacio-Míguez
Angela Del Pozo
Somayeh Bakhtiari
Matthew Deardorff
Holly A Dubbs
Kosuke Izumi
Katheryn Grand
Christopher Gray
Paul R Mark
Elizabeth J Bhoj
Dong Li
Xilma R Ortiz-Gonzalez
Beth Keena
Elaine H Zackai
Ethan M Goldberg
Guiomar Perez de Nanclares
Arrate Pereda
Isabel Llano-Rivas
Ignacio Arroyo
María Ángeles Fernández-Cuesta
Christel Thauvin-Robinet
Laurence Faivre
Aurore Garde
Benoit Mazel
Ange-Line Bruel
Michael L Tress
Eva Brilstra
Amena Smith Fine
Kylie E Crompton
Alexander P A Stegmann
Margje Sinnema
Servi C J Stevens
Joost Nicolai
Gaetan Lesca
Laurence Lion-François
Damien Haye
Nicolas Chatron
Amelie Piton
Mathilde Nizon
Benjamin Cogne
Siddharth Srivastava
Jennifer Bassetti
Candace Muss
Karen W Gripp
Rebecca A Procopio
Francisca Millan
Michelle M Morrow
Melissa Assaf
Andres Moreno-De-Luca
Shelagh Joss
Mark J Hamilton
Marta Bertoli
Nicola Foulds
Shane McKee
Alastair H MacLennan
Jozef Gecz
Mark A Corbett
Affiliated Authors:
Wendy K Chung
Columbia Affiliation:
Subjects:
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Autism Spectrum Disorders (OpenAlex Topic)
Intellectual Disability (MeSH)
Neurodevelopmental Disorders (MeSH)
Author Keywords:
autism
cerebral palsy
familial exudative vitreoretinopathy
microcephaly
wnt beta catenin signaling pathway
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Publication Type:
Article
Unique ID:
10.1016/j.gim.2022.08.006
PMID:
36083290
DOI:
10.1016/j.gim.2022.08.006
Journal:
Genetics in Medicine
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record
View Web of Science Record
View OpenAlex Record

Record Created: