Publications by authors named "Andrew Webster"

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SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization.
Juan C Romo-Aguas, Yannik Laich, Angelos Kalitzeos, Thales A C de Guimarāes, Anthony G Robson, Andrew R Webster

Am J Ophthalmol· December 2025

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A novel missense variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.
Lauren Y Cao, Anna Duemler, Emily H Jung, Ramiro S Maldonado, Sarah Richards, Andrew R Webster

Ophthalmic Genet· December 2025

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'Most important is understanding primary care in the context of the whole health system.' The data-use aspirations of primary care leaders in Australia: a qualitative study.
Andrew D Webster, Deborah Askew, Vivian Lyall, Jason D Pole, Geoffrey Spurling

Aust Health Rev· December 2025

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Clinician Time Savings and Financial Value of Workstation Single Sign-On and Access Management in the United Kingdom and Ireland.
George A Gellert, Daniel Johnston, Andrew Wilcox, Zoe Starmer, Mudiyr Gopi, Andrew Webster

Adv Health Inf Sci Pract· December 2025

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Patient-Derived Xenograft Models of Fanconi Anemia-Associated Head and Neck Cancer Identify Personalized Therapeutic Strategies.
Jennifer Grandis, Hua Li, Benjamin A Harrison, Andrew Lh Webster, Joanna Pucilowska

J Clin Invest· December 2025

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Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Claudio Fiorini, Neringa Jurkute, Alessandra Torraco, Chiara La Morgia, Daniele Ghezzi, Andrew R Webster

Brain· November 2025

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Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome.
Nancy Aychoua, Thales A C de Guimarães, Manav B Ponnekanti, Sajin Sasidharan, Sum-Ping Leung, Andrew R Webster

JAMA Ophthalmol· November 2025

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Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI.
Wendy Wong, Dayyanah Sumodhee, Tiyi Morris, Bhavna Tailor, Catherine Hollyhead, Andrew R Webster

Br J Ophthalmol· October 2025

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Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.
Michalis Georgiou, Kaoru Fujinami, Yu Fujinami-Yokokawa, Fadi Nasser, Michael J Gale, Andrew R Webster

Am J Ophthalmol· October 2025

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RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.
Leon Chang, James A Poulter, Andrew R Webster, Gavin Arno, Rajarshi Mukherjee

Eur J Hum Genet· October 2025

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G-quadruplexes as a source of vulnerability in BRCA2deficient granule cell progenitors and medulloblastoma.
Danielle L Keahi, Mathijs A Sanders, Matthew R Paul, Andrew L H Webster, Yin Fang

Proc Natl Acad Sci U S A· September 2025

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Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.
Callum Hunt, Ha-Jun Yoon, Alvin Lirio, Kayesha Coley, Jun Wang, Andrew R Webster

Invest Ophthalmol Vis Sci· September 2025

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Selective Impairment of Rod-Driven Vision in Vitamin A Deficiency: Insights From Examining the Effect of Desensitizing Backgrounds.
Megan Margetts, Remi Rufus-Toye, Xiaofan Jiang, Shaun M Leo, Isabelle Chow, Andrew R Webster

Invest Ophthalmol Vis Sci· September 2025

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syndrome presenting with a familial exudative vitreoretinopathy (FEVR)-like retinovascular phenotype.
Siying Lin, Eleanor Hay, Dorothy A Thompson, Mariya Moosajee, Andrew R Webster

Ophthalmic Genet· August 2025

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Recognizing Variants Prevalent in Particular Ancestries.
Omar A Mahroo, Siying Lin, Andrew R Webster

JAMA Ophthalmol· August 2025

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Dissemination and Implementation of a Telehealth-Enabled Program for Providing Infectious Disease Expertise in Rural Settings.
Robin L P Jump, Taissa A Bej, Amanda Vivo, Brigid M Wilson, Corinne Kowal, Andrew S Webster

Open Forum Infect Dis· August 2025

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Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.
Mark J Hughes, Tina Lamey, Elena R Schiff, Siying Lin, Terri Mclaren, Andrew R Webster

Invest Ophthalmol Vis Sci· August 2025

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A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry.
Wendy M Wong, Anthony G Robson, Rebecca A Baker, Gavin Arno, Joseph Van Aerschot, Andrew R Webster

Invest Ophthalmol Vis Sci· July 2025

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Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations.
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, Malena Daich Varela, Mital Shah, Andrew R Webster

medRxiv· July 2025

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RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.
Malena Daich Varela, Juan Carlos Romo-Aguas, Rosellina Guarascio, Kalliopi Ziaka, Monica Aguila, Andrew R Webster

Invest Ophthalmol Vis Sci· July 2025

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Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.
Neringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, Lindsey Van Haute, Christian D Mutti, Andrew R Webster

Invest Ophthalmol Vis Sci· June 2025

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Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.
Rola Ba-Abbad, Igor V Peshenko, Malena Daich Varela, Siying Lin, Gavin Arno, Andrew R Webster

Invest Ophthalmol Vis Sci· June 2025

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Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.
Nikolas Pontikos, William A Woof, Siying Lin, Biraja Ghoshal, Bernardo S Mendes, Andrew R Webster

Nat Mach Intell· June 2025

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Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases.
Gunjan Naik, Saoud Al-Khuzaei, Ismail Moghul, Thales A C de Guimaraes, Sagnik Sen, Andrew R Webster

Ophthalmol Sci· June 2025

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Discrepancies Between Autofluorescence Imaging Modalities in CNGB3-Associated Achromatopsia and Correlation With Ellipsoid Zone Continuity.
Haseeb N Akhtar, Chun Fung Jeffrey Lam, Siying Lin, Gavin Arno, Jose S Pulido, Andrew R Webster

Transl Vis Sci Technol· May 2025

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