James J. O'byrne
Eccles Street, D07 R2WY Dublin
Dublin, L, Ireland
Dublin, L, Ireland
Last Updated: 09/26/2026
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Found 31 publications
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).
Journal: Genes
Published: September 16, 2025
Successful multidisciplinary management of pregnancy in a woman with glycogen storage disease type IIIA.
Journal: Obstetric medicine
Published: August 06, 2025
The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria.
Journal: European journal of neurology
Published: July 04, 2025
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.
Journal: Investigative ophthalmology & visual science
Published: July 19, 2023
Variant reclassification and clinical implications.
Journal: Journal of medical genetics
Published: June 30, 2023
MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.
Journal: Case reports in ophthalmology
Published: May 30, 2022
Ictal aphasia in LGI1-related autosomal dominant epilepsy with auditory features.
Journal: Practical neurology
Published: March 13, 2022
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Journal: Genes
Published: January 31, 2022
Last Updated: 09/26/2026