Genetics

Genetic analysis of ocular tumour-associated genes using large genomic datasets: insights into selection constraints and variant representation in the population
Alexander Tanner, Mandeep S Sagoo, Omar A Mahroo, Jose S Pulido

BMJ Open Ophthalmology Feb 2024, 9 (1) e001565; DOI: 10.1136/bmjophth-2023-001565
16S rRNA nanopore sequencing for the diagnosis of ocular infection: a feasibility study
Masatoshi Omi, Yoshiyuki Matsuo, Kaoru Araki-Sasaki, Shimpei Oba, Haruhiko Yamada, Kiichi Hirota, Kanji Takahashi

BMJ Open Ophthalmology May 2022, 7 (1) e000910; DOI: 10.1136/bmjophth-2021-000910
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 changes
Alexander Tanner, Hwei Wuen Chan, Elena Schiff, Omar A Mahroo, Jose S Pulido

BMJ Open Ophthalmology Aug 2022, 7 (1) e001079; DOI: 10.1136/bmjophth-2022-001079
Pathogenic genetic variants identified in Australian families with paediatric cataract
Johanna 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

BMJ Open Ophthalmology Aug 2022, 7 (1) e001064; DOI: 10.1136/bmjophth-2022-001064
Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree
Mariana Matioli da Palma, Maurício E Vargas, Amanda Burr, Rui Chen, Mark E Pennesi, Richard G Weleber, Paul Yang

BMJ Open Ophthalmology Oct 2021, 6 (1) e000813; DOI: 10.1136/bmjophth-2021-000813
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

BMJ Open Ophthalmology Sep 2021, 6 (1) e000760; DOI: 10.1136/bmjophth-2021-000760
Therapeutic potential of omega-3 fatty acids supplementation in a mouse model of dry macular degeneration
Ekatherine Prokopiou, Panagiotis Kolovos, Maria Kalogerou, Anastasia Neokleous, Gregory Papagregoriou, Constantinos Deltas, Stavros Malas, Tassos Georgiou

BMJ Open Ophthalmology Jun 2017, 1 (1) e000056; DOI: 10.1136/bmjophth-2016-000056

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Genetics