Andrea L. Vincent

85 Park Rd
Grafton, AUK 1023, New Zealand

Last Updated: 09/26/2026

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Found 90 publications

THRB splice site variants lead to exon 4 skipping and TRβ1 gain-of-function syndrome.

THRB splice site variants lead to exon 4 skipping and TRβ1 gain-of-function syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: May 04, 2026

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings.

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings.

Journal: Investigative ophthalmology & visual science

Published: April 14, 2026

Alternate day vs daily topical brinzolamide for the treatment of cystic maculopathy in inherited rod cone retinal degenerations.

Alternate day vs daily topical brinzolamide for the treatment of cystic maculopathy in inherited rod cone retinal degenerations.

Journal: Ophthalmic genetics

Published: March 31, 2026

Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population.

Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population.

Journal: Ophthalmic genetics

Published: March 30, 2026

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

Journal: Human mutation

Published: October 26, 2025

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Journal: Investigative ophthalmology & visual science

Published: June 04, 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

Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP-1 receptor agonist therapy.

Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP-1 receptor agonist therapy.

Journal: Diabetic medicine : a journal of the British Diabetic Association

Published: May 04, 2025

The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.

The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.

Journal: Ophthalmic genetics

Published: November 18, 2024

THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease.

THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease.

Journal: Retina (Philadelphia, Pa.)

Published: October 17, 2024

Inherited retinal disease in global Indigenous populations: A scoping review.

Inherited retinal disease in global Indigenous populations: A scoping review.

Journal: Survey of ophthalmology

Published: September 28, 2024

Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights.

Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights.

Journal: Clinical & experimental ophthalmology

Published: September 18, 2024

Showing 1-12 of 90

Last Updated: 09/26/2026