1. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. Issue 8 (5th November 2021) Authors: Cloney, Thomas; Gallacher, Lyndon; Pais, Lynn S; Tan, Natalie B; Yeung, Alison; Stark, Zornitza; Brown, Natasha J; McGillivray, George; Delatycki, Martin B; de Silva, Michelle G; Downie, Lilian; Stutterd, Chloe A; Elliott, Justine; Compton, Alison G; Lovgren, Alysia; Oertel, Ralph; Francis, David... Journal: Journal of medical genetics Issue: Volume 59:Issue 8(2022) Page Start: 748 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Issue 7 (28th July 2021) Authors: Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-them, Frederic; Vitobello, Antonio; Chan, Marcus CY; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie;... Journal: Journal of medical genetics Issue: Volume 59:Issue 7(2022) Page Start: 697 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗