PMC Links for OMIM (Select 618825) - PMC

Result Filters

Links from OMIM

Items: 2

Select item 70588231.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Sónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto-Kaufmann, Andrey V. Kajava, Damien Laouteouet, Rebecca Mawby, Htoo Aung Wai, Alexander J.M. Dingemans, Jayne Hehir-Kwa, Marjorlaine Willems, Yline Capri, Sarju G. Mehta, Helen Cox, David Goudie, Fleur Vansenne, Peter Turnpenny, Marie Vincent, Benjamin Cogné, Gaëtan Lesca, Jozef Hertecant, Diana Rodriguez, Boris Keren, Lydie Burglen, Marion Gérard, Audrey Putoux, C4RCD Research Group, Vincent Cantagrel, Karine Siquier-Pernet, Marlene Rio, Siddharth Banka, Ajoy Sarkar, Marcie Steeves, Michael Parker, Emma Clement, Sébastien Moutton, Frédéric Tran Mau-Them, Amélie Piton, Bert B.A. de Vries, Matthew Guille, Anne Debant, Susanne Schmidt, Diana Baralle

Am J Hum Genet. 2020 Mar 5; 106(3): 338–355. Published online 2020 Feb 27. doi: 10.1016/j.ajhg.2020.01.018

PMCID:: PMC7058823

Abstract Article PDF–3.3M

Select item 52642322.

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

Reuben J Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, Eleanor G Seaby, M Reza Jabalameli, Sarju G Mehta, Michael J Parker, David Goudie, Christine Fagotto-Kaufmann, Catherine Mercer, the DDD Study, Anne Debant, Sarah Ennis, Diana Baralle

J Med Genet. 2016 Nov; 53(11): 735–742. Published online 2016 Jul 14. doi: 10.1136/jmedgenet-2016-103942