Pathogenic genetic variants identified in Australian families with paediatric cataractJohanna L Jones, Bennet J McComish, Sandra E Staffieri, Emmanuelle Souzeau, Lisa S Kearns, James E Elder, Jac C Charlesworth, David A Mackey, Jonathan B Ruddle, Deepa Taranath, John Pater, Theresa Casey, Jamie E Craig, Kathryn P Burdon
26 August 2022
Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changesAlexander Tanner, Hwei Wuen Chan, Elena Schiff, Omar A Mahroo, Jose S Pulido
25 August 2022
16S rRNA nanopore sequencing for the diagnosis of ocular infection: a feasibility studyMasatoshi Omi, Yoshiyuki Matsuo, Kaoru Araki-Sasaki, Shimpei Oba, Haruhiko Yamada, Kiichi Hirota, Kanji Takahashi
24 May 2022
Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigreeMariana Matioli da Palma, Maurício E Vargas, Amanda Burr, Rui Chen, Mark E Pennesi, Richard G Weleber, Paul Yang
21 October 2021
Living with heritable retinoblastoma and the perceived role of regular follow-up at a retinoblastoma survivorship clinic: ‘That is exactly what I have been missing’Pernille Axel Gregersen, Mikkel Funding, Jan Alsner, Maja H Olsen, Jens Overgaard, Steen F Urbak, Sandra E Staffieri, Stina Lou
12 September 2021
Therapeutic potential of omega-3 fatty acids supplementation in a mouse model of dry macular degenerationEkatherine Prokopiou, Panagiotis Kolovos, Maria Kalogerou, Anastasia Neokleous, Gregory Papagregoriou, Constantinos Deltas, Stavros Malas, Tassos Georgiou
19 June 2017
