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| | Publication Year | Title | Author(s) |
| 1 | May-2023 | Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability. | Francis, David I; Stark, Zornitza; Scheffer, Ingrid E ; Tan, Tiong Yang; Murali, Krithika; Gallacher, Lyndon; Amor, David J; Goel, Himanshu; Downie, Lilian; Stutterd, Chloe A ; Krzesinski, Emma I; Vasudevan, Anand; Oertel, Ralph; Petrovic, Vida; Boys, Amber; Wei, Vivian; Burgess, Trent; Dun, Karen; Oliver, Karen L; Baxter, Anne; Hackett, Anna; Ayres, Samantha; Lunke, Sebastian; Kalitsis, Paul; Wall, Meaghan |
| 2 | Dec-2022 | Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting. | Ye, Zimeng; Lin, Sufang; Zhao, Xia; Bennett, Mark F ; Brown, Natasha J; Wallis, Mathew J ; Gao, Xinyi; Sun, Li; Wu, Jiarui; Vedururu, Ravikiran; Witkowski, Tom ; Gardiner, Fiona; Stutterd, Chloe A ; Duan, Jing; Mullen, Saul A ; McGillivray, George; Bodek, Simon; Valente, Giulia M ; Reagan, Matthew; Yao, Yi; Li, Lin; Chen, Li; Boys, Amber; Adikari, Thiuni N; Cao, Dezhi; Hu, Zhanqi; Beshay, Victoria; Zhang, Victor W; Berkovic, Samuel F ; Scheffer, Ingrid E ; Liao, Jianxiang; Hildebrand, Michael S |
| 3 | Oct-2021 | Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. | Stutterd, Chloe A ; Kidd, Alexa; Florkowski, Chris; Janus, Edward; Fanjul, Miriam; Raizis, Anthony; Wu, Teddy Y; Archer, John S ; Leventer, Richard J; Amor, David J; Lukic, Vesna; Bahlo, Melanie; Gow, Paul J ; Lockhart, Paul J; van der Knaap, Marjo S; Delatycki, Martin B |
| 4 | 29-Sep-2021 | Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome. | Brown, Natasha J; Ye, Zimeng; Stutterd, Chloe A ; Jayasinghe, Sureshni I; Schneider, Amy L ; Mullen, Saul A ; Mandelstam, Simone A; Hildebrand, Michael S |
| 5 | 5-Apr-2021 | Speech, Language and Oromotor Skills in Patients with Polymicrogyria. | Braden MSpPath, Ruth O; Boyce, Jessica O; Stutterd, Chloe A ; Pope, Kate; Goel, Himanshu; Leventer, Richard J; Scheffer, Ingrid E ; Morgan, Angela T |
| 6 | Apr-2021 | Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. | Myers, Kenneth A; Marini, Carla; Carvill, Gemma L; McTague, Amy; Panetta, Julie; Stutterd, Chloe A ; Stanley, Thorsten; Marin, Samantha; Nguyen, John; Barba, Carmen; Rosati, Anna; Scott, Richard H; Mefford, Heather C; Guerrini, Renzo; Scheffer, Ingrid E |
| 7 | 15-Jan-2021 | The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. | Eratne, Dhamidhu; Schneider, Amy L ; Lynch, Ella; Martyn, Melissa; Velakoulis, Dennis; Fahey, Michael; Kwan, Patrick; Leventer, Richard; Rafehi, Haloom; Chong, Belinda; Stark, Zornitza; Lunke, Sebastian; Phelan, Dean G; O'Keefe, Melanie; Siemering, Kirby; West, Kirsty; Sexton, Adrienne; Jarmolowicz, Anna; Taylor, Jessica A; Schultz, Joshua; Purvis, Rebecca; Uebergang, Eloise; Chalinor, Heather; Creighton, Belinda; Gelfand, Nikki; Saks, Tamar; Prawer, Yael; Smagarinsky, Yana; Pan, Tianxin; Goranitis, Ilias; Ademi, Zanfina; Gaff, Clara; Huq, Aamira; Walsh, Maie; James, Paul A; Krzesinski, Emma I; Wallis, Mathew J ; Stutterd, Chloe A ; Bahlo, Melanie; Delatycki, Martin B ; Berkovic, Samuel F |
| 8 | Nov-2020 | Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. | Tan, Natalie B; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B ; Yeung, Alison; Hunter, Matthew F; Amor, David J; Brown, Natasha J; Stutterd, Chloe A ; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lynn S; White, Susan M; Lunke, Sebastian; Tan, Tiong Y |
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