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Human Mutation|March 17, 2010
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypesKatherine V Towns, Athina Kipioti, Vernon Long, et al.Internal Medicine Journal|September 10, 2021
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendationsCarolyn M Sue, Shanti Balasubramaniam, Drago Bratkovic, et al.Ophthalmology|February 23, 2020
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle GlaucomaOwen M Siggs, Emmanuelle Souzeau, Deepa A Taranath, et al.Molecular Genetics & Genomic Medicine|August 19, 2022
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohortEmmanuelle Souzeau, Owen M Siggs, Sean Mullany, et al.Journal of Alzheimer'S Disease : JAD|June 6, 2018
Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference PanelsMichelle K Lupton, Sarah E Medland, Scott D Gordon, et al.Investigative Ophthalmology & Visual Science|January 17, 2013
Identification of a candidate gene for astigmatismMargarida C Lopes, Pirro G Hysi, Virginie J M Verhoeven, et al.BMJ Open|March 29, 2020
Rationale and protocol for the 7- and 8-year longitudinal assessments of eye health in a cohort of young adults in the Raine StudySamantha Sze-Yee Lee, Gareth Lingham, Seyhan Yazar, et al.Plos Genetics|May 14, 2010
Digital quantification of human eye color highlights genetic association of three new lociFan Liu, Andreas Wollstein, Pirro G Hysi, et al.BMC Medical Genomics|July 25, 2018
Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritisElisabeth De Smit, Samuel W Lukowski, Lisa Anderson, et al.Plos Genetics|May 21, 2010
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thicknessYi Lu, David P Dimasi, Pirro G Hysi, et al.Pageof 46