1. "It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray result. Issue 11 (13th July 2016) Authors: Wilkins, Ella J.; Archibald, Alison D.; Sahhar, Margaret A.; White, Susan M. Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. Issue 3 (7th February 2017) Authors: Marsh, Ashley P. L.; Yap, Patrick; Tan, Tiong; Pope, Kate; White, Susan M.; Chong, Belinda; Mcgillivray, George; Boys, Amber; Stephenson, Sarah E. M.; Leventer, Richard J.; Stark, Zornitza; Lockhart, Paul J. Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 820 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A population‐based profile of 160 Australians with Prader‐Willi syndrome: Trends in diagnosis, birth prevalence and birth characteristics. (25th November 2014) Authors: Lionti, Tess; Reid, Susan M.; White, Susan M.; Rowell, Margaret M. Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 371 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An exploration of the communication patterns and language used between clinical geneticists and parents of children with dysmorphic features. Issue 11 (23rd September 2014) Authors: Steel, Emma J.; Hodgson, Jan; Stirling, Lesley; White, Susan M. Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2822 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cerebral hypomyelination associated with biallelic variants of FIG4. Issue 5 (28th February 2019) Authors: Lenk, Guy M.; Berry, Ian R.; Stutterd, Chloe A.; Blyth, Moira; Green, Lydia; Vadlamani, Gayatri; Warren, Daniel; Craven, Ian; Fanjul‐Fernandez, Miriam; Rodriguez‐Casero, Victoria; Lockhart, Paul J.; Vanderver, Adeline; Simons, Cas; Gibb, Susan; Sadedin, Simon; White, Susan M.; Christodoulou, John... Journal: Human mutation Issue: Volume 40:Issue 5(2019) Page Start: 619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. Issue 1 (21st November 2013) Authors: Burgess, Trent; Brown, Natasha J.; Stark, Zornitza; Bruno, Damien L.; Oertel, Ralph; Chong, Belinda; Calabro, Vanessa; Kornberg, Andrew; Sanderson, Christine; Kelly, Julian; Howell, Katherine B.; Savarirayan, Ravi; Hinds, Rupert; Greenway, Anthea; Slater, Howard R.; White, Susan M. Journal: American journal of medical genetics Issue: Volume 164:Issue 1(2014.) Page Start: 77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical and molecular spectrum of CHOPS syndrome. Issue 7 (6th May 2019) Authors: Raible, Sarah E.; Mehta, Devanshi; Bettale, Chiara; Fiordaliso, Sarah; Kaur, Maninder; Medne, Livija; Rio, Marlene; Haan, Eric; White, Susan M.; Cusmano‐Ozog, Kristina; Nishi, Eriko; Guo, Yiran; Wu, Honglin; Shi, Xiaoqing; Zhao, Qingjie; Zhang, Xueqin; Lei, Qi; Lu, Aimei; He, Xiyu; Okamoto, Nobuhiko Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment. Issue 6 (June 2017) Authors: Huq, Aamira J.; Bogwitz, Michael; Gorelik, Alexandra; Winship, Ingrid M.; White, Susan M.; Trainer, Alison H. Journal: Internal medicine journal Issue: Volume 47:Issue 6(2017) Page Start: 664 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. (26th May 2021) Authors: Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; L... Journal: Epilepsia Issue: Volume 62:issue 7(2021) Page Start: e103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts. Issue 3 (18th February 2013) Authors: Akawi, Nadia A.; Canpolat, Fuat E.; White, Susan M.; Quilis‐Esquerra, Josep; Morales Sanchez, Martin; Gamundi, Maria José; Mochida, Ganeshwaran H.; Walsh, Christopher A.; Ali, Bassam R.; Al‐Gazali, Lihadh Journal: Human mutation Issue: Volume 34:Issue 3(2013:Mar.) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗