De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic fea...
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
About this item
Full title
Author / Creator
Okur, Volkan , Cho, Megan T. , Henderson, Lindsay , Retterer, Kyle , Schneider, Michael , Sattler, Shannon , Niyazov, Dmitriy , Azage, Meron , Smith, Sharon , Picker, Jonathan , Lincoln, Sharyn , Tarnopolsky, Mark , Brady, Lauren , Bjornsson, Hans T. , Applegate, Carolyn , Dameron, Amy , Willaert, Rebecca , Baskin, Berivan , Juusola, Jane and Chung, Wendy K.
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants associated with genetically heterogeneous conditions including intellectual disabilities. We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with a neurodevelopmental disorder a...
Alternative Titles
Full title
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
Authors, Artists and Contributors
Author / Creator
Cho, Megan T.
Henderson, Lindsay
Retterer, Kyle
Schneider, Michael
Sattler, Shannon
Niyazov, Dmitriy
Azage, Meron
Smith, Sharon
Picker, Jonathan
Lincoln, Sharyn
Tarnopolsky, Mark
Brady, Lauren
Bjornsson, Hans T.
Applegate, Carolyn
Dameron, Amy
Willaert, Rebecca
Baskin, Berivan
Juusola, Jane
Chung, Wendy K.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1808618230
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1808618230
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-016-1661-y
