Laura Whelan

Dublin, L, Ireland

Last Updated: 09/26/2026

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Found 20 publications

First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an Irish RPGR Pedigree with X-Linked Retinitis Pigmentosa.

First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an Irish RPGR Pedigree with X-Linked Retinitis Pigmentosa.

Journal: Genes

Published: May 14, 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 landscape of variants in pre-mRNA-processing factor genes in an Irish cohort.

The landscape of variants in pre-mRNA-processing factor genes in an Irish cohort.

Journal: Genetics in medicine open

Published: September 11, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Journal: medRxiv : the preprint server for health sciences

Published: January 20, 2025

Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy.

Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy.

Journal: Genes

Published: November 29, 2024

Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

Journal: JAMA ophthalmology

Published: April 11, 2024

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

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

Journal: HGG advances

Published: June 05, 2023

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 19, 2022

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

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Last Updated: 09/26/2026