1. 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases. Issue 10 (15th August 2013) Authors: Brown, Natasha; Burgess, Trent; Forbes, Robin; McGillivray, George; Kornberg, Andrew; Mandelstam, Simone; Stark, Zornitza Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2604 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. (September 2018) Authors: Lee, Eric; Le, Trang; Zhu, Ying; Elakis, George; Turner, Anne; Lo, William; Venselaar, Hanka; Verrenkamp, Carol-Ann; Snow, Nicole; Mowat, David; Kirk, Edwin Philip; Sachdev, Rani; Smith, Janine; Brown, Natasha Jane; Wallis, Mathew; Barnett, Chris; McKenzie, Fiona; Freckmann, Mary-Louise; Collins,... Journal: Genetics in medicine Issue: Volume 20:Number 9(2018) Page Start: 1061 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy. Issue 12 (16th March 2020) Authors: Cabrera-Serrano, Macarena; Coote, David Joseph; Azmanov, Dimitar; Goullee, Hayley; Andersen, Erik; McLean, Catriona; Davis, Mark; Ishimura, Ryosuke; Stark, Zornitza; Vallat, Jean-Michel; Komatsu, Masaaki; Kornberg, Andrew; Ryan, Monique; Laing, Nigel G; Ravenscroft, Gina Journal: Journal of medical genetics Issue: Volume 57:Issue 12(2020) Page Start: 835 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Apert syndrome: temporal lobe abnormalities on fetal brain imaging. (13th November 2014) Authors: Stark, Zornitza; McGillivray, George; Sampson, Amanda; Palma‐Dias, Ricardo; Edwards, Andrew; Said, Joanne M.; Whiteley, Gillian; Fink, A. Michelle Journal: Prenatal diagnosis Issue: Volume 35:Number 2(2015:Feb.) Page Start: 179 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Issue 3 (25th December 2018) Authors: Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al‐Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; W... Journal: Human mutation Issue: Volume 40:Issue 3(2019) Page Start: 267 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. Issue 4 (20th September 2021) Authors: Sleiman, Sophie; Marshall, Aren E; Dong, Xiaomin; Mhanni, Aziz; Alidou-D'Anjou, Ismaël; Frosk, Patrick; Marin, Samantha E; Stark, Zornitza; Del Bigio, Marc R; McBride, Arran; Sadedin, Simon; Gallacher, Lyndon; Christodoulou, John; Boycott, Kym M; Dragon, François; Kernohan, Kristin D Journal: Human molecular genetics Issue: Volume 31:Issue 4(2022) Page Start: 614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol. Issue 8 (3rd August 2019) Authors: Jayasinghe, Kushani; Stark, Zornitza; Patel, Chirag; Mallawaarachchi, Amali; McCarthy, Hugh; Faull, Randall; Chakera, Aron; Sundaram, Madhivanan; Jose, Matthew; Kerr, Peter; Wu, You; Wardrop, Louise; Goranitis, Ilias; Best, Stephanie; Martyn, Melissa; Quinlan, Catherine; Mallett, Andrew J Journal: BMJ open Issue: Volume 9:Issue 8(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol. Issue 8 (5th August 2019) Authors: Jayasinghe, Kushani; Stark, Zornitza; Patel, Chirag; Mallawaarachchi, Amali; McCarthy, Hugh; Faull, Randall; Chakera, Aron; Sundaram, Madhivanan; Jose, Matthew; Kerr, Peter; Wu, You; Wardrop, Louise; Goranitis, Ilias; Best, Stephanie; Martyn, Melissa; Quinlan, Catherine; Mallett, Andrew J Journal: BMJ open Issue: Volume 9:Issue 8(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗