Stephanie R. Halford

Headley Way
Oxford, ENG OX39DU, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 30 publications

Genotypic and Phenotypic Insights on 11 Novel Variants in the ABCA4 Gene.

Genotypic and Phenotypic Insights on 11 Novel Variants in the ABCA4 Gene.

Journal: Genes

Published: April 24, 2026

Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy.

Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy.

Journal: Genes

Published: October 31, 2025

Genotype-Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK.

Genotype-Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK.

Journal: Genes

Published: July 31, 2025

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.

Journal: Genes

Published: April 19, 2023

Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy.

Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy.

Journal: Vision (Basel, Switzerland)

Published: December 24, 2022

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.

Journal: Genes

Published: July 05, 2022

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.

Journal: Ophthalmic genetics

Published: November 09, 2021

An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.

An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.

Journal: Genes

Published: July 01, 2021

The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions.

The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions.

Journal: Therapeutic advances in ophthalmology

Published: June 19, 2021

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.

Journal: Genes

Published: November 18, 2020

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.

Journal: Genes

Published: September 28, 2020

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".

Journal: Eye (London, England)

Published: April 29, 2020

Showing 1-12 of 30

Last Updated: 09/26/2026