1. 6p.24 microdeletion involving TFAP2A without classic features of branchio‐oculo‐facial syndrome1. Issue 4 (12th March 2013) Authors: LeBlanc, Shannon K.; Yu, Sui; Barnett, Christopher P. Journal: American journal of medical genetics Issue: Volume 161:Issue 4(2013:Apr.) Page Start: 901 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion. (13th September 2022) Authors: Pandithan, Dinusha; Klebe, Sonja; McKavanagh, Grace; Rawlings, Lesley; Yu, Sui; Nicholl, Jillian; Poplawski, Nicola Other Names: Ban Yoshiyuki Academic Editor. Journal: Case reports in genetics Issue: Volume 2022(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders. (11th October 2018) Authors: Niemi, Mari; Martin, Hilary; Rice, Daniel; Gallone, Giuseppe; Gordon, Scott; Kelemen, Martin; McAloney, Kerrie; McRae, Jeremy; Radford, Elizabeth; Yu, Sui; Gecz, Jozef; Martin, Nicholas; Wright, Caroline; Fitzpatrick, David; Firth, Helen; Hurles, Matthew; Barrett, Jeffrey Journal: Nature Issue: Volume 562:Number 7726(2018) Page Start: 268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Efficient interest‐aware data dissemination in mobile opportunistic networks. (1st October 2019) Authors: Yu, Sui; Zhang, Lichen; Li, Peng; Li, Lixia; Yan, Bin; Cai, Zhipeng Other Names: Gill Sukhpal Singh guestEditor.; Vinuesa Ricardo guestEditor.; Balasubramanian Venki guestEditor.; Ghosh Soumya K. guestEditor. Journal: Software, practice & experience Issue: Volume 52:Number 4(2022) Page Start: 917 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
8. Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly. Issue 7 (24th April 2020) Authors: Ludington, Eleanor G.; Yu, Sui; Bae, Ha Ae; Barnett, Christopher P. Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1824 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phenotypes of AKT3 deletion: A case report and literature review. (25th November 2014) Authors: Gai, Dayu; Haan, Eric; Scholar, Matthew; Nicholl, Jillian; Yu, Sui Journal: American journal of medical genetics Issue: Volume 167:Number 1(2015:Jan.) Page Start: 174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Phenotypic variation of TTC19‐deficient mitochondrial complex III deficiency: A case report and literature review. (21st April 2015) Authors: Mordaunt, Dylan A.; Jolley, Alexandra; Balasubramaniam, Shanti; Thorburn, David R.; Mountford, Hayley S.; Compton, Alison G.; Nicholl, Jillian; Manton, Nicholas; Clark, Damian; Bratkovic, Drago; Friend, Kathryn; Yu, Sui Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗