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) ↗
2. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Issue 6 (9th March 2017) Authors: Rosti, Rasim Ozgur; Sotak, Bethany N; Bielas, Stephanie L; Bhat, Gifty; Silhavy, Jennifer L; Aslanger, Ayca Dilruba; Altunoglu, Umut; Bilge, Ilmay; Tasdemir, Mehmet; Yzaguirrem, Amanda D; Musaev, Damir; Infante, Sofia; Thuong, Whitney; Marin-Valencia, Isaac; Nelson, Stanley F; Kayserili, Hulya; G... Journal: Journal of medical genetics Issue: Volume 54:Issue 6(2017) Page Start: 399 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗