Emmanuelle Souzeau

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

Janey L. Wiggs, Paul Mitchell, Jonathan L. Haines, 2014, Nature Genetics.

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

Tiger Zhou, Stuart MacGregor, Stuart Graham, 2017, PloS one.

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

Kathryn P. Burdon, Theresa Casey, Jamie E. Craig, 2017, BMC Medical Genetics.

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

David A. Mackey, Alex W. Hewitt, Kathryn P. Burdon, 2016, Translational vision science & technology.