Output details
5 - Biological Sciences
University of Sussex
Article title
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Type
D - Journal article
DOI
Title of journal
Nature Genetics
Article number
-
Volume number
44
Issue number
8
First page of article
934
ISSN of journal
1546-1718
Year of publication
2012
Number of additional authors
40
Additional information
I made a substantial and essential contribution to the design of the study; I conceived, designed and oversaw the functional analysis of the patient cell lines which was essential in demonstrating hyper-activation of the PI3K-AKT-mTOR pathway for the first time in these congenital syndromes. I directed the acquisition, analysis and interpretation of the functional cellular data. I drafted the associated figures (including supplementary information) and wrote the associated text in the final version.
Interdisciplinary
-
Cross-referral requested
-
Research group
None
Citation count
47
Proposed double-weighted
No
Double-weighted statement
-
Reserve for a double-weighted output
No
Non-English
No
English abstract
-
