Owen M. Siggs

University of Sydney — Australia

Medicine · Health Sciences

39h-index4.9kcitations146works3.72yr avg
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Research Topics

Glaucoma and retinal disorders(67), Retinal Diseases and Treatments(41), Retinal Imaging and Analysis(19), Corneal surgery and disorders(17), Immune Cell Function and Interaction(13)

Publications146 total

Overactive STAT3 Dysregulates BCR Signalling and Drives Accumulation and Autoreactivity of Disease-Associated CD21low B Cells
Journal of Human Immunity·2025Open Access
A Multitrait Polygenic Risk Score for Open-Angle Glaucoma Stratifies Risk of Pigmentary Glaucoma in Pigment Dispersion Syndrome
Ophthalmology Glaucoma·2025Open Access
Expert Perspectives on Clinical Laboratory Accreditation for Polygenic Risk Scores
2025Open Access
REPLY
Ophthalmology·2025· 1 citedOpen Access
Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating <i>PITX2</i> from a conserved enhancer locus
2025· 1 citedOpen Access
Combined genomic and phenotypic classification of inherited and acquired genetic disease with long-read sequencing
2025Open Access
Impact of rare and common genetic variation on cell type-specific gene expression in human blood
2025· 14 citedOpen Access
A rare splice-site variant in <i>TNNT2</i>: the need for ancestral diversity in genomic reference data sets
European Heart Journal·2025· 3 citedOpen Access
A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation
Ophthalmology·2025· 9 citedOpen Access
Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening
BMC Medical Genomics·2025· 5 citedOpen Access
Tandem repeat variation shapes immune cell type-specific gene expression
2024· 7 citedOpen Access
Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening
2024· 1 citedOpen Access
Healthcare professionals' knowledge and attitudes towards polygenic risk testing for glaucoma
Clinical and Experimental Ophthalmology·2024· 6 citedOpen Access
Sequential mosaic variants in <i>KRAS</i> and <i>STAT5B</i> associated with a mixed phenotype of two acquired errors of immunity
2024Open Access
A Rare Splice-Site Variant in Cardiac Troponin-T (TNNT2): The Need for Ancestral Diversity in Genomic Reference Datasets
Heart Lung and Circulation·2024· 1 cited
95 Patterns and presentations of mosaic variation in monogenic acquired errors of immunity
Clinical Immunology·2024
JointViT: Modeling Oxygen Saturation Levels with Joint Supervision on Long-Tailed OCTA
arXiv (Cornell University)·2024Open Access
Polygenic Risk Scores Driving Clinical Change in Glaucoma
Annual Review of Genomics and Human Genetics·2024· 10 citedOpen Access
Deep Learning-Based Identification of Intraocular Pressure-Associated Genes Influencing Trabecular Meshwork Cell Morphology
Ophthalmology Science·2024· 6 citedOpen Access
A rare splice-site variant in cardiac troponin-T ( <i>TNNT2)</i> : The need for ancestral diversity in genomic reference datasets
2024· 3 citedOpen Access
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Frequent Co-authors

Jamie E. Craig(22), Alex W. Hewitt(21), Emmanuelle Souzeau(18), Bruce Beutler(17), David A. Mackey(14), Kathryn P. Burdon(12), Ayub Qassim(11), Stuart L. Graham(11), Robert J. Casson(11), Paul R. Healey(10), Jonathan B. Ruddle(10), Stuart MacGregor(10), Richard Mills(9), Puya Gharahkhani(8), Xikun Han(8), Tiger Zhou(8), Anna Galanopoulos(8), Henry Marshall(7), Ivan Goldberg(6), John Landers(6)