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Saoud Al‐Khuzaei

An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story
2021 · Saoud Al-Khuzaei, Suzanne Broadgate, et al. · Genes · 70
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Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)
2023 · Quang Nguyen, William Woof, et al. · BMJ Open · 36
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Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
2025 · Nikolas Pontikos, William A. Woof, et al. · Nature Machine Intelligence · 33
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Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom
2024 · William A. Woof, Thales A.C. de Guimarães, et al. · Ophthalmology Science · 23
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The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene
2022 · Leo C. Hahn, Michalis Georgiou, et al. · Ophthalmology Retina · 22
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Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using deep-learning
2022 · Nikolas Pontikos, William Woof, et al. · Research Square · 17
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Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
2020 · Susan M. Downes, Tham Nguyen, et al. · Genes · 12
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients
2020 · Saoud Al-khuzaei, Suzanne Broadgate, et al. · Genes · 12
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Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes
2022 · Helena M. Feenstra, Saoud Al-Khuzaei, et al. · Genes · 8
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The role of multimodal imaging and vision function testing in ABCA4 -related retinopathies and their relevance to future therapeutic interventions
2021 · Saoud Al-Khuzaei, Mital Shah, et al. · Therapeutic Advances in Ophthalmology · 7
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Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI
2025 · Wendy Wong, Dayyanah Sumodhee, et al. · British Journal of Ophthalmology · 5
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations
2025 · William Woof, Thales A. C. de Guimarães, et al. · medRxiv · 4
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Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases
2025 · Gunjan Naik, Saoud Al-Khuzaei, et al. · Ophthalmology Science · 4
Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease
2025 · Alexis Ceecee Britten-Jones, Saoud Al-Khuzaei, et al. · Translational Vision Science & Technology · 3
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Genotype–Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK
2025 · Saoud Al-Khuzaei, Mital Shah, et al. · Genes · 3
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Combined central serous chorioretinopathy, hypermetropia, short axial length, chorioretinal folds, enlarged/thickened ocular coats, with varying association of scleral changes (CHAFES)
2023 · Susan M Downes, Sonia P Mall, et al. · BMC Ophthalmology · 3
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Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report
2021 · Saoud Al-Khuzaei, Karl A. Z. Hudspith, et al. · BMC Ophthalmology · 3
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Making Deep Learning Models Clinically Useful - Improving Diagnostic Confidence in Inherited Retinal Disease with Conformal Prediction
2024 · Biraja Ghoshal, William Woof, et al. · Lecture notes in computer science · 1
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A Prospective Audit Comparing Optos Widefield Imaging to Fundus Examination for Von Hippel-Lindau Retinal Screening
2022 · Naeem Iqbal, Matthew Stahl, et al. · Cureus · 1
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Retinitis Pigmentosa and erythrocytic microcytosis related to hypomorphic variants in the TRNT1 gene
2026 · Rhea Suribhatla, Saoud Al-Khuzaei, et al. · Figshare
Retinitis Pigmentosa and erythrocytic microcytosis related to hypomorphic variants in the TRNT1 gene
2026 · Rhea Suribhatla, Saoud Al-Khuzaei, et al. · Ophthalmic Genetics
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Genotypic and Phenotypic Insights on 11 Novel Variants in the ABCA4 Gene
2026 · Saoud Al-Khuzaei, Jing Yu, et al. · Genes
OCT and Autofluorescence Phenotypic Features in Autosomal Dominant RHO-Associated Retinitis Pigmentosa Variants
2026 · Christina Karakosta, Saoud Al-Khuzaei, et al. · Vision
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Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy
2025 · Saoud Al-Khuzaei, Ahmed K. Shalaby, et al. · Genes
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#ECR-Paper-03 VESPAR: quantitative analysis of the retinal vasculature using a novel segmentation algorithm to enable gene-phenotype association studies in a cohort of 3,944 patients with inherited retinal diseases
2025 · Bernardo Souza Mendes, William Woof, et al.
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Works count: 29
Citation count: 266
H-index: 8
I10-index: 8
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