Area of research
Radiology, Nuclear Medicine and Imaging · Ophthalmology
Research interest
Research interests include Retinal Diseases and Treatments, Retinal Development and Disorders, Retinal Imaging and Analysis, and Corneal surgery and disorders.
Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology
Prevalence and demographics of 331 rare diseases and associated COVID-19-related mortality among 58 million individuals: a nationwide retrospective observational study
Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita
A foundation model for generalizable disease detection from retinal images
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
The GA4GH Phenopacket schema defines a computable representation of clinical data
UK Biobank retinal imaging grading: methodology, baseline characteristics and findings for common ocular diseases
Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
The genetic landscape of crystallins in congenital cataract
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly
Functional variants in the <i>LRRK2</i> gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy
The Human Phenotype Ontology in 2017
Standardizing Flow Cytometry Immunophenotyping Analysis from the Human ImmunoPhenotyping Consortium
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis
A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF