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Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma

The Journal of clinical investigation, 2022-12, Vol.132 (23), p.1-15

2022

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Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry

Ophthalmology (Rochester, Minn.), 2021-11, Vol.128 (11), p.1549-1560

2021

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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

American journal of human genetics, 2016-03, Vol.98 (3), p.592-592

2016

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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

Acta neuropathologica communications, 2020-06, Vol.8 (1), p.1-93, Article 93

2020

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Pathogenic genetic variants identified in Australian families with paediatric cataract

BMJ open ophthalmology, 2022-08, Vol.7 (1), p.e001064

2022

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Traumatic eye injury from an exploding aerosol can

Medical journal of Australia, 2019-03, Vol.210 (4), p.154-154

2019

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Establishing risk of vision loss in Leber hereditary optic neuropathy

American journal of human genetics, 2021-11, Vol.108 (11), p.2159-2170

2021

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Optical coherence tomography in children with inherited retinal disease

Clinical and experimental optometry, 2024-04, Vol.107 (3), p.255-266

2024

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The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature

Molecular vision, 2022-09, Vol.28, p.257-268

2022

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Parent satisfaction and acceptability of telehealth consultations in pediatric ophthalmology: initial experience during the COVID-19 pandemic

Journal of AAPOS, 2021-04, Vol.25 (2), p.104-107

2021

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Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis

Clinical & experimental ophthalmology, 2018-11, Vol.46 (8), p.962-964

2018

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The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

Clinical genetics, 2020-05, Vol.97 (5), p.764-769

2020

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Phase 2 Study of Neoadjuvant FGFR Inhibition and Androgen Deprivation Therapy Prior to Prostatectomy

Clinical genitourinary cancer, 2022-10, Vol.20 (5), p.452-458

2022

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Comparison between surgical outcomes of glaucoma drainage implant surgery performed with and without intraluminal stent

Clinical & experimental ophthalmology, 2020-05, Vol.48 (4), p.525-528

2020

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Acute bilateral myopia caused by lamotrigine‐induced uveal effusions

Journal of paediatrics and child health, 2017-10, Vol.53 (10), p.1013-1014

2017

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Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

European journal of human genetics : EJHG, 2017-11, Vol.25 (11), p.1290-1290

2017

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Endophthalmitis associated with Glaucoma Shunt Intraluminal Stent Exposure

Journal of current glaucoma practice, 2016, Vol.10 (1), p.36-37

2016

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Genetic Dissection of Myopia

Ophthalmology (Rochester, Minn.), 2008, Vol.115 (6), p.1053-1057.e2

2008

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Erratum: Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

European journal of human genetics : EJHG, 2017-10, Vol.25 (11), p.1290-1290

2017

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Incidence and predictors of glaucoma following surgery for congenital cataract in the first year of life in V ictoria, A ustralia

Clinical & experimental ophthalmology, 2013-09, Vol.41 (7), p.653-661

2013

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Telemedicine model to prevent blindness from familial glaucoma: Telemedicine model for glaucoma screening

Clinical & experimental ophthalmology, 2011-11, Vol.39 (8), p.760-765

2011

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Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness: e1000947

PLoS genetics, 2010-05, Vol.6 (5)

2010

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Clinical Case Notes: Clinical progression of keratoconus following a Vth nerve palsy

Clinical & experimental ophthalmology, 2003-08, Vol.31 (4), p.363-365

2003

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Clinical Case Notes

Clinical & experimental ophthalmology, 2003-08, Vol.31 (4), p.363-365

2003

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Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma

Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

Pathogenic genetic variants identified in Australian families with paediatric cataract

Traumatic eye injury from an exploding aerosol can

Establishing risk of vision loss in Leber hereditary optic neuropathy

Optical coherence tomography in children with inherited retinal disease

The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature

Parent satisfaction and acceptability of telehealth consultations in pediatric ophthalmology: initial experience during the COVID-19 pandemic

Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

Phase 2 Study of Neoadjuvant FGFR Inhibition and Androgen Deprivation Therapy Prior to Prostatectomy

Comparison between surgical outcomes of glaucoma drainage implant surgery performed with and without intraluminal stent

Acute bilateral myopia caused by lamotrigine‐induced uveal effusions

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

Endophthalmitis associated with Glaucoma Shunt Intraluminal Stent Exposure

Three Different Cone Opsin Gene Array Mutational Mechanisms; Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants

Genetic Dissection of Myopia

Erratum: Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

Incidence and predictors of glaucoma following surgery for congenital cataract in the first year of life in V ictoria, A ustralia

Telemedicine model to prevent blindness from familial glaucoma: Telemedicine model for glaucoma screening

Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness: e1000947

Clinical Case Notes: Clinical progression of keratoconus following a Vth nerve palsy

Clinical Case Notes

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