1. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. Issue 1 (16th June 2017) Authors: Marin-Valencia, Isaac; Novarino, Gaia; Johansen, Anide; Rosti, Basak; Issa, Mahmoud Y; Musaev, Damir; Bhat, Gifty; Scott, Eric; Silhavy, Jennifer L; Stanley, Valentina; Rosti, Rasim O; Gleeson, Jeremy W; Imam, Farhad B; Zaki, Maha S; Gleeson, Joseph G Journal: Journal of medical genetics Issue: Volume 55:Issue 1(2018) Page Start: 48 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗