Stephanie J. Barton

Manchester, ENG M139WL, United Kingdom

Last Updated: 09/26/2026

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Found 17 publications

Patterns of X-Linked Retinitis Pigmentosa Genetic Testing in England and Implications for Service Provision.

Patterns of X-Linked Retinitis Pigmentosa Genetic Testing in England and Implications for Service Provision.

Journal: Ophthalmology science

Published: October 06, 2025

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.

Journal: Orphanet journal of rare diseases

Published: January 31, 2023

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Journal: Genome medicine

Published: February 09, 2022

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Journal: European journal of human genetics : EJHG

Published: May 30, 2019

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.

Journal: European journal of human genetics : EJHG

Published: May 13, 2019

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.

Journal: American journal of medical genetics. Part A

Published: January 17, 2019

The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified.

The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified.

Journal: Acta ophthalmologica

Published: December 18, 2018

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Journal: Journal of medical genetics

Published: May 10, 2017

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.

Journal: Clinical & experimental ophthalmology

Published: February 08, 2017

A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

Journal: Acta ophthalmologica

Published: January 13, 2017

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Journal: Ophthalmology

Published: December 15, 2016

Validation of copy number variation analysis for next-generation sequencing diagnostics.

Validation of copy number variation analysis for next-generation sequencing diagnostics.

Journal: European journal of human genetics : EJHG

Published: September 06, 2016

Showing 1-12 of 17

Last Updated: 09/26/2026