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- Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Zornitza Stark, Natasha J Brown, George McGillivray, Martin B Delatycki, Michelle G de Silva, Lilian Downie, Chloe A Stutterd, Justine Elliott, Alison G Compton, Alysia Lovgren, Ralph Oertel, David Francis, Katrina M Bell, Simon Sadedin, Sze Chern Lim, Guy Helman, Cas Simons, Daniel G Macarthur, David R Thorburn, Anne H O'Donnell-Luria, John Christodoulou, Susan M White, Tiong Yang TanJournal of Medical Genetics Aug 2022, 59 (8) 748-758; DOI: 10.1136/jmedgenet-2021-107902
- Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutationVassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, Edoardo Giacopuzzi, Martin A McClatchey, Julian R Sampson, Mohnish Suri, Alice Gardham, Jan-Maarten Cobben, Deborah Osio, Andrew E Fry, Genomics England Research Consortium, Jenny C TaylorJournal of Medical Genetics Apr 2022, 59 (4) 366-369; DOI: 10.1136/jmedgenet-2020-107528
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