Area of research
Molecular Biology · Ophthalmology
Research interest
Research focused on Retinitis pigmentosa and ABCA4, with related work in Genetics, Achromatopsia, Retinal degeneration. Notable publications include 'In Vivo Imaging of Human Cone Photoreceptor Inner Segments', 'iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration', and 'Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration'.
Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure
Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia
Gene dosage manipulation alleviates manifestations of hereditary <i>PAX6</i> haploinsufficiency in mice
Full-Field Electroretinography, Pupillometry, and Luminance Thresholds in X-Linked Retinoschisis
VISUAL IMPAIRMENT IN RETINITIS PIGMENTOSA
Two-color pupillometry in KCNV2 retinopathy
CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA
Residual Foveal Cone Structure in <i>CNGB3</i>-Associated Achromatopsia
Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease
USE OF A CARBONIC ANHYDRASE INHIBITOR IN X-LINKED RETINOSCHISIS
Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in<i>CEP290</i>Leber Congenital Amaurosis Patients
Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy
Rod and cone contributions to the dark-adapted 15-Hz flicker electroretinogram
Vision Improvement After Retreatment with an Oral Synthetic cis-Retinoid (QLT091001) in Subjects with LCA or RP due to Mutations in RPE65 or LRAT
2015cited by 1position: middle
In Vivo Imaging of Human Cone Photoreceptor Inner Segments
Analysis of the ABCA4 genomic locus in Stargardt disease
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
Genetic and Clinical Analysis of <i> <scp>ABCA</scp> 4 </i> ‐Associated Disease in African American Patients
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
Treatment of cystic macular lesions in hereditary retinal dystrophies
Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290
ASSOCIATION OF DARK-ADAPTED VISUAL FUNCTION WITH RETINAL STRUCTURAL CHANGES IN PATIENTS WITH STARGARDT DISEASE
THE VALUE OF RETINAL IMAGING WITH INFRARED SCANNING LASER OPHTHALMOSCOPY IN PATIENTS WITH STARGARDT DISEASE
Resolution of Mid-Peripheral Schisis in X-Linked Retinoschisis with the Use of Dorzolamide