Area of research
Molecular Biology · Ophthalmology
Research interest
Research interests include Stargardt disease, ABCA4, Biology, Genetics, Ophthalmology, and Fundus (uterus).
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION
Genome-wide analyses identify common variants associated with macular telangiectasia type 2
Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease
Quantitative Fundus Autofluorescence in Recessive Stargardt Disease
Analysis of the ABCA4 genomic locus in Stargardt disease
Genetic and Clinical Analysis of <i> <scp>ABCA</scp> 4 </i> ‐Associated Disease in African American Patients
THE VALUE OF RETINAL IMAGING WITH INFRARED SCANNING LASER OPHTHALMOSCOPY IN PATIENTS WITH STARGARDT DISEASE
Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the<i>ABCA4</i>Gene