Publications by authors named "Jonathan B Ruddle"

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Characterising microstructural retinal changes in children with inherited retinal dystrophies - a retrospective observational cross-sectional study.
Jonathon Holland, Brent Rodda, Jonathan B Ruddle, Marianne Ef Piano, Elisse J Higginbotham

Graefes Arch Clin Exp Ophthalmol· October 2025

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Paediatric glaucoma in Stickler syndromes: a comprehensive review of prevalence, comorbidities and outcomes.
Sena Ayse Gocuk, Abdullah Shahzad, Lauren Ayton, Rosie Claire Hewitt Dawkins, Jonathan B Ruddle

BMJ Open Ophthalmol· May 2025

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Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, Enid S Chelva, Sean Armstrong, Jonathan B Ruddle

Invest Ophthalmol Vis Sci· May 2024

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Optical coherence tomography in children with inherited retinal disease.
Jasleen K Jolly, Brent M Rodda, Thomas L Edwards, Lauren N Ayton, Jonathan B Ruddle

Clin Exp Optom· April 2024

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Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.
Alexis Ceecee Britten-Jones, Joshua Schultz, Heather G Mack, Lisa S Kearns, Aamira J Huq, Jonathan B Ruddle

Sci Rep· March 2024

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Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
David A Mackey, Jue-Sheng Ong, Stuart MacGregor, David C Whiteman, Jamie E Craig, Jonathan B Ruddle

Am J Hum Genet· January 2023

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Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons.
Sueanne Chear, Sharn Perry, Richard Wilson, Aidan Bindoff, Jana Talbot, Jonathan B Ruddle

Dis Model Mech· December 2022

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Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma.
Haojie Fu, Owen M Siggs, Lachlan Sw Knight, Sandra E Staffieri, Jonathan B Ruddle

J Clin Invest· December 2022

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Phase 2 Study of Neoadjuvant FGFR Inhibition and Androgen Deprivation Therapy Prior to Prostatectomy.
Elizabeth Liow, Nicholas Howard, Chol-Hee Jung, Bernard Pope, Bethany K Campbell, Jonathan B Ruddle

Clin Genitourin Cancer· October 2022

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The phenotypic spectrum of associated ectopia lentis: Additional cases, complications, and review of literature.
Lachlan S W Knight, Sean Mullany, Deepa A Taranath, Jonathan B Ruddle, Christopher P Barnett

Mol Vis· October 2022

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Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.
Mallika Prem Senthil, Lachlan S W Knight, Deepa Taranath, David A Mackey, Jonathan B Ruddle

Cornea· August 2022

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Pathogenic genetic variants identified in Australian families with paediatric cataract.
Johanna L Jones, Bennet J McComish, Sandra E Staffieri, Emmanuelle Souzeau, Lisa S Kearns, Jonathan B Ruddle

BMJ Open Ophthalmol· August 2022

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Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry.
Lachlan S W Knight, Jonathan B Ruddle, Deepa A Taranath, Ivan Goldberg, James E H Smith

Ophthalmology· November 2021

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Establishing risk of vision loss in Leber hereditary optic neuropathy.
M Isabel G Lopez Sanchez, Lisa S Kearns, Sandra E Staffieri, Linda Clarke, Myra B McGuinness, Jonathan B Ruddle

Am J Hum Genet· November 2021

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Expanding the phenotype of mucopolysaccharidosis type II retinopathy.
Tanya Kowalski, Jonathan B Ruddle, Gerard de Jong, Heather G Mack

Ophthalmic Genet· October 2021

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Parent satisfaction and acceptability of telehealth consultations in pediatric ophthalmology: initial experience during the COVID-19 pandemic.
Sandra E Staffieri, Anu A Mathew, Shivanand J Sheth, Jonathan B Ruddle, James E Elder

J AAPOS· April 2021

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Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.
Owen M Siggs, Emmanuelle Souzeau, Deepa A Taranath, Andrew Dubowsky, Angela Chappell, Jonathan B Ruddle

Ophthalmology· June 2020

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A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.
Valentina Baderna, Joshua Schultz, Lisa S Kearns, Michael Fahey, Bryony A Thompson, Jonathan B Ruddle

Acta Neuropathol Commun· June 2020

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Comparison between surgical outcomes of glaucoma drainage implant surgery performed with and without intraluminal stent.
Lingwei W Tao, Alp Atik, Hye J Kwon, Catherine Green, Michael Coote, Jonathan B Ruddle

Clin Exp Ophthalmol· May 2020

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The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Owen M Siggs, Mona S Awadalla, Emmanuelle Souzeau, Sandra E Staffieri, Lisa S Kearns, Jonathan B Ruddle

Clin Genet· May 2020

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Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in .
Owen M Siggs, Emmanuelle Souzeau, James Breen, Ayub Qassim, Tiger Zhou, Jonathan B Ruddle

Mol Vis· April 2020

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Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.
Naushin H Waseem, Sancy Low, Amna Z Shah, Deepa Avisetti, Pia Ostergaard, Jonathan B Ruddle

PLoS Genet· April 2020

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Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.
Jamie E Craig, Xikun Han, Ayub Qassim, Mark Hassall, Jessica N Cooke Bailey, Jonathan B Ruddle

Nat Genet· February 2020

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Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion.
Emmanuelle Souzeau, Andrew Dubowsky, Jonathan B Ruddle, Jamie E Craig

Mol Genet Genomic Med· August 2019

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Optical coherence tomography in paediatric clinical practice.
Katia A Maccora, Shivanand Sheth, Jonathan B Ruddle

Clin Exp Optom· May 2019

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