Area of research
Molecular Biology · Ophthalmology
Research interest
Research focused on Genetics and Retinitis pigmentosa, with related work in Exome sequencing, Achromatopsia, Retinal degeneration. Notable publications include 'Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease', 'Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing', and 'Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia'.
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
Mutations in<i>RPGR</i>and<i>RP2</i>Account for 15% of Males with Simplex Retinal Degenerative Disease