Area of research
Molecular Biology · Ophthalmology
Research interest
Research interests include Retinal Development and Disorders, Retinal Diseases and Treatments, Cellular transport and secretion, and Connexins and lens biology.
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients
Revealing hidden genetic diagnoses in the ocular anterior segment disorders
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <i>TNNT3</i> splice variant
Mutations in<i>SIPA1L3</i>cause eye defects through disruption of cell polarity and cytoskeleton organization