Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders

Accepted/In Press date: 27 January 2020

e-pub ahead of print date: 27 February 2020

Published date: 5 March 2020

Additional Information: Funding Information: We are grateful to all the patients and their families for their participation in this study. We thank all members of the Debant team for helpful discussions. We acknowledge the imaging facility Montpellier Ressources Imagerie (MRI) , a member of the national France-BioImaging infrastructure supported by the French National Research Agency (ANR-10-INBS-04, “Investments for the future”). We thank A. Guille for help with statistical analysis. This work was supported by grants from the Fondation pour la Recherche Médicale (Equipes FRM 2016 , DEQ20160334942 ) to A.D. A PhD fellowship from the Ministère de l’Enseignement Supérieur et de la Recherche supported M.B. The European Xenopus Resource Centre (EXRC) is funded by the Wellcome Trust ( 212942/Z/18/Z ) and the Biotechnology and Biological Sciences Research Council ( BB/R014841/1 ). The Baralle lab is supported by a National Institute for Health Research research professorship to D.B. (RP-2016-07-011). S.G.-H. is funded by a research fellowship from the Health Education England Genomics Education Programme . The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant HICF-1009-003 ]. This research was made possible through access to data and findings generated by the 100,000 Genomes Project, which is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. Publisher Copyright: © 2020 The Authors

Keywords: autism, intellectual disability, macrocephaly, microcephaly

Local EPrints ID: 438435

URI: http://eprints.soton.ac.uk/id/eprint/438435

DOI: doi:10.1016/j.ajhg.2020.01.018

ISSN: 0002-9297

PURE UUID: 56264703-a417-4386-98b0-68bb7be65e19

ORCID for Htoo Wai: orcid.org/0000-0002-3560-6980

ORCID for Diana Baralle: orcid.org/0000-0003-3217-4833

Date deposited: 10 Mar 2020 17:31

Last modified: 17 Mar 2024 03:52