Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

Jamie E. Craig, Xikun Han, Ayub Qassim, +56

Nature Genetics

Genome-wide Association StudyDisease SusceptibilityMedicineGeneticsMultitrait Analysis +10

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Tomokazu Souma, Stuart W. Tompson, Benjamin R. Thomson, +32

Journal of Clinical Investigation

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

Puya Gharahkhani, Kathryn P. Burdon, Rhys Fogarty, +38

Nature Genetics

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

Stuart MacGregor, Jue‐Sheng Ong, Jiyuan An, +29

Nature Genetics

Genome-wide Association StudyTranscriptional RegulationSystems BiologyGeneticsGenetic Epidemiology +6

Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma

Mona S. Awadalla, John H. Fingert, Benjamin E. Roos, +13

American Journal of Ophthalmology

UrologyOcular DiseaseOphthalmologyCopy Number VariationsEye Health +4

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

Owen M. Siggs, Emmanuelle Souzeau, Deepa Taranath, +16

Ophthalmology

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

Emmanuelle Souzeau, Owen M. Siggs, Tiger Zhou, +19

European Journal of Human Genetics

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, +17

PLoS ONE

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

Puya Gharahkhani, Kathryn P. Burdon, Jessica N. Cooke Bailey, +61

Scientific Reports

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent

Sionne E. M. Lucas, Tiger Zhou, Nicholas B. Blackburn, +9

PLoS ONE

Rare VariationGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +15