| | Publication Year | Title | Author(s) |
| 1 | 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 |
| 2 | 29-Jul-2022 | Clinical impact of whole-genome sequencing in patients with early-onset dementia. | Huq, Aamira J; Thompson, Bryony; Bennett, Mark F ; Bournazos, Adam; Bommireddipalli, Shobhana; Gorelik, Alexandra; Schultz, Joshua; Sexton, Adrienne; Purvis, Rebecca; West, Kirsty; Cotter, Megan ; Valente, Giulia M ; Hughes, Andrew J ; Riaz, Moeen; Walsh, Maie; Farrand, Sarah; Loi, Samantha M; Kilpatrick, Trevor; Brodtmann, Amy ; Darby, David G; Eratne, Dhamidhu; Walterfang, Mark; Delatycki, Martin B ; Storey, Elsdon; Fahey, Michael; Cooper, Sandra; Lacaze, Paul; Masters, Colin L ; Velakoulis, Dennis; Bahlo, Melanie; James, Paul A; Winship, Ingrid |
| 3 | Apr-2021 | Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis. | Valente, Giulia M ; Amor, David J; Ioannou, Liane J; Archibald, Alison D |
| 4 | Jan-2021 | Clinical impact of genomic testing in patients with suspected monogenic kidney disease. | Jayasinghe, Kushani; Stark, Zornitza; Kerr, Peter G; Gaff, Clara; Martyn, Melissa; Whitlam, John B ; Creighton, Belinda; Donaldson, Elizabeth; Hunter, Matthew; Jarmolowicz, Anna; Johnstone, Lilian; Krzesinski, Emma; Lunke, Sebastian; Lynch, Elly; Nicholls, Kathleen; Patel, Chirag; Prawer, Yael; Ryan, Jessica; See, Emily J ; Talbot, Andrew; Trainer, Alison; Tytherleigh, Rigan; Valente, Giulia M ; Wallis, Mathew J ; Wardrop, Louise; West, Kirsty H; White, Susan M; Wilkins, Ella; Mallett, Andrew J; Quinlan, Catherine |
| 5 | Dec-2020 | A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients. | Yeung, Alison; Tan, Natalie B; Tan, Tiong Y; Stark, Zornitza; Brown, Natasha; Hunter, Matthew F; Delatycki, Martin B ; Stutterd, Chloe; Savarirayan, Ravi; Mcgillivray, George; Stapleton, Rachel; Kumble, Smitha; Downie, Lilian; Regan, Matthew; Lunke, Sebastian; Chong, Belinda; Phelan, Dean; Brett, Gemma R; Jarmolowicz, Anna; Prawer, Yael; Valente, Giulia M ; Smagarinsky, Yana; Martyn, Melissa; McEwan, Callum; Goranitis, Ilias; Gaff, Clara; White, Susan M |
| 6 | Apr-2019 | A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system. | Martyn, Melissa; Kanga-Parabia, Anaita; Lynch, Elly; James, Paul A; Macciocca, Ivan; Trainer, Alison H; Halliday, Jane; Keogh, Louise; Wale, Janney; Winship, Ingrid; Bogwitz, Michael; Valente, Giulia M ; Walsh, Maie; Downie, Lilian; Amor, David; Wallis, Mathew J ; Cunningham, Fiona; Burgess, Matthew J; Brown, Natasha J; Jarmolowicz, Anna; Lunke, Sebastian; Goranitis, Ilias; Gaff, Clara L |
| 7 | 2018 | Genetic Counseling in the Era of Genomics: What's all the Fuss about? | Brett, Gemma R; Wilkins, Ella J; Creed, Emma T; West, Kirsty; Jarmolowicz, Anna; Valente, Giulia M ; Prawer, Yael; Lynch, Elly; Macciocca, Ivan |