Julia Zhu

Eccles Street, D07 R2WY Dublin
Dublin, L, Ireland

Last Updated: 09/26/2026

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Found 13 publications

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

Journal: Genes

Published: July 15, 2026

Secondary Ophthalmic Features Represent Diagnostic Clues and Potential Points of Intervention for Inherited Retinal Diseases (Target 5000 Report 3).

Secondary Ophthalmic Features Represent Diagnostic Clues and Potential Points of Intervention for Inherited Retinal Diseases (Target 5000 Report 3).

Journal: Genes

Published: September 16, 2025

The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations-A Case-Based Review.

The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations-A Case-Based Review.

Journal: Life (Basel, Switzerland)

Published: November 27, 2023

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.

Journal: Investigative ophthalmology & visual science

Published: July 19, 2023

MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.

MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.

Journal: Case reports in ophthalmology

Published: May 30, 2022

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.

Journal: Scientific reports

Published: May 17, 2022

Coats-like exudative vitreoretinopathy (CLEVER) in CEP290 inherited retinal degeneration.

Coats-like exudative vitreoretinopathy (CLEVER) in CEP290 inherited retinal degeneration.

Journal: BMJ case reports

Published: February 16, 2022

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Journal: Genes

Published: January 31, 2022

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.

Journal: International journal of molecular sciences

Published: December 11, 2021

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.

Journal: Human genetics

Published: November 23, 2021

Management of significant secondary genetic findings in an ophthalmic genetics clinic.

Management of significant secondary genetic findings in an ophthalmic genetics clinic.

Journal: Eye (London, England)

Published: March 03, 2021

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.

Journal: Orphanet journal of rare diseases

Published: January 01, 2021

Showing 1-12 of 13

Last Updated: 09/26/2026