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The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

Journal article

Black GC. et al, (2021), Orphanet Journal of Rare Diseases, 16

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

Journal article

Patel CK. et al, (2021), Ophthalmic Genet, 1 - 9

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

Journal article

Al-Khuzaei S. et al, (2021), Genes, 12, 1241 - 1241

Bilateral paracentral acute middle maculopathy in a SARS-CoV-2-positive patient.

Journal article

Naughton A. et al, (2021), Postgrad Med J

Genotype-phenotype correlation of novel variants in ABCA4

Conference paper

Al-khuzaei S. et al, (2021), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 62

Widespread Thinning of Human Primary Visual Cortex Following Focal Loss of Photoreceptors

Conference paper

Jolly JK. et al, (2021), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 62

Clinical and genetic spectrum of patients with GUCY2D-associated retinal dystrophies

Conference paper

Hahn LC. et al, (2021), ACTA OPHTHALMOLOGICA, 99, 39 - 40

New variants and in silico analyses in GRK1 associated Oguchi disease

Journal article

Poulter JA. et al, (2021), Human Mutation, 42, 164 - 176

The effect of congenital and acquired bilateral anophthalmia on brain structure

Journal article

BRIDGE H. et al, (2020), Neuro-Ophthalmology

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

Journal article

Al-khuzaei S. et al, (2020), Genes, 11, 1288 - 1288

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