1. De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review. Issue 6 (6th May 2013) Authors: Jolley, Alexandra; Corbett, Mark; McGregor, Lesley; Waters, Wendy; Brown, Susan; Nicholl, Jillian; Yu, Sui Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1508 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH123. Issue 1 (26th November 2012) Authors: Nicholl, Jillian; Waters, Wendy; Suwalski, Shanna; Brown, Sue; Hull, Yvonne; Harbord, Michael G.; Entwistle, John; Thompson, Suzanna; Clark, Damian; Pridmore, Claire; Haan, Eric; Barnett, Christopher; McGregor, Lesley; Liebelt, Jan; Thompson, Elizabeth M.; Friend, Kathryn; Bain, Sharon M.; Yu, Su... Journal: American journal of medical genetics Issue: Volume 162:Issue 1(2013) Page Start: 24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract. Issue 3 (19th December 2013) Authors: Gai, Dayu; Nicholl, Jillian; Waters, Wendy; Barnett, Christopher P.; Yu, Sui Journal: American journal of medical genetics Issue: Volume 164:Issue 3(2014.) Page Start: 834 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗