Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
Authors:
- Andrea AccogliAAAndrea Accogli
- Meagan L. Collins HutchinsonMHMeagan L. Collins Hutchinson
- Eric KrochmalnekEKEric Krochmalnek
- Judith St-OngeJSJudith St-Onge
- Nassima Boudrahem-AddourNBNassima Boudrahem-Addour
- Jean-Baptiste RivièreJRJean-Baptiste Rivière
- Ridha JooberRJRidha Joober
- Myriam SrourMSMyriam Srour
- Yannis TrakadisYTYannis Trakadis
Open Access
- 20 October 2023
- journal article
- research article
- Published by Elsevier in Psychiatry Research Case Reports
- Vol. 2 (2)
Abstract
No abstract availableKeywords
Funding Information
- Santé
- Canada First Research Excellence Fund
This publication has 29 references indexed in Scilit:
- MutationTaster2: mutation prediction for the deep-sequencing ageNature Methods, 2014
- Orthopedic manifestations and implications for individuals with Costello syndromeAmerican Journal of Medical Genetics Part A, 2013
- Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndromeHuman Molecular Genetics, 2013
- Analysis and design of RNA sequencing experiments for identifying isoform regulationNature Methods, 2010
- Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activationHuman Molecular Genetics, 2009
- Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?American Journal of Medical Genetics Part A, 2008
- Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndromeHuman Mutation, 2007
- Characterization and prediction of alternative splice sitesGene, 2006
- Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence informationNucleic Acids Research, 1996
- Prediction of human mRNA donor and acceptor sites from the DNA sequenceJournal of Molecular Biology, 1991