Stephanie Halford

9PUBLICATIONS
9CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Gene mappingGenetic immunology
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Publications (9)

|Jul 28, 2026
Genotypic and Phenotypic Insights on 11 Novel Variants in the ABCA4 Gene.

|Jun 28, 2023
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.

Jennifer Kirkby, Stephanie Halford, Morag Shanks

|Aug 26, 2022
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.

Helena M Feenstra, Saoud Al-Khuzaei, Mital Shah

|Nov 09, 2021
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.

Chetan Khantibai Patel, Suzanne Broadgate, Ahmed Shalaby

|Aug 27, 2021
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.

Saoud Al-Khuzaei, Suzanne Broadgate, Charlotte R Foster

|Dec 16, 2020
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.

Susan M Downes, Tham Nguyen, Vicky Tai

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Frequent Collaborators

5 joint publications

Susan M Downes

2 joint publications

Jasleen K Jolly

2 joint publications

Mital Shah

1 joint publications

Olivia Cundy