Area of research
Ophthalmology · Molecular Biology
Research interest
Research focused on Glaucoma and Open angle glaucoma, with related work in Genome-wide association study, Genetics, Optic nerve. Notable publications include 'Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries', 'Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression', and 'Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity'.
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma
Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.
Meta‐analysis of Genome‐Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma