Susan M Downes

17PUBLICATIONS
90CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Optical technologyGenetic immunologyVision scienceGene mapping
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Publications (17)

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

|Apr 24, 2026
OCT and Autofluorescence Phenotypic Features in Autosomal Dominant RHO-Associated Retinitis Pigmentosa Variants.

|Dec 30, 2025
Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy.

Saoud Al-Khuzaei, Ahmed K Shalaby, Jing Yu

|Sep 27, 2025
Genotype-Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK.

Saoud Al-Khuzaei, Mital Shah, Arun Reginald

|Jul 09, 2025
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations.

William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei

|Jun 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.

Nikolas Pontikos, William A Woof, Siying Lin

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Frequent Collaborators

8 joint publications

Mital Shah

6 joint publications

Saoud Al-Khuzaei

6 joint publications

Samantha R De Silva

5 joint publications

Stephanie Halford