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Publications

EFFICACY OF HALF-DOSE PHOTODYNAMIC THERAPY VERSUS HIGH-DENSITY SUBTHRESHOLD MICROPULSE LASER FOR TREATING PIGMENT EPITHELIAL DETACHMENTS IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY

Feenstra HMA. et al, (2022), Retina, 42, 721 - 729

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

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

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

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

SVRare: discovering disease-causing structural variants in the 100K Genomes Project

Yu J. et al, (2021)

RESPONSE OF CHOROIDAL ABNORMALITIES TO PHOTODYNAMIC THERAPY VERSUS MICROPULSE LASER IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY: Place Trial Report No. 4.

van Rijssen TJ. et al, (2021), Retina, 41, 2122 - 2131

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

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

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

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

Genotype-phenotype correlation of novel variants in ABCA4

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

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

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

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.

Al-Khuzaei S. et al, (2021), BMC Ophthalmol, 21

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

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

New variants and in silico analyses in GRK1 associated Oguchi disease

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

Functional Brain Imaging During Extra-Ocular Light Stimulation in Anophthalmic and Sighted Participants: No Evidence for Extra-Ocular Photosensitive Receptors.

Bridge H. et al, (2021), Front Neurosci, 15

Long-term follow-up of chronic central serous chorioretinopathy after successful treatment with photodynamic therapy or micropulse laser

van Rijssen TJ. et al, (2021), Acta Ophthalmologica

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

Al-Khuzaei S. et al, (2021), Ther Adv Ophthalmol, 13

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

Downes SM. et al, (2020), Genes (Basel), 11

The effect of congenital and acquired bilateral anophthalmia on brain structure

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

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

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

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

Kuehlewein L. et al, (2020), JAMA Ophthalmol

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.

de Bruijn SE. et al, (2020), Am J Hum Genet

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