Associate Professor Andrea Vincent is a clinician scientist, with sub-specialty training and expertise in Ocular Genetics and Paediatric Ophthalmology, practicing at Greenlane Eye Clinic and Retina Specialists. She established and heads the Genetic Eye Disease Investigation Unit (GEDI), with local and international collaborations. This provides both clinical expertise, and a research capability to greater understand the genetic defects causing Ocular Disease. A database of Inherited Retinal and Optic nerve disease is established and now has over 1000 Probands.
Craig JE, Han X, Qassim A, Hassall M, Cooke Bailey JN, Kinzy TG, Khawaja AP, An J, Marshall H, Gharahkhani P, Igo RP, Graham SL, Healey PR, Ong J-S, Zhou T, Siggs O, Law MH, Souzeau E, Ridge B, Hysi PG, Burdon KP, Mills RA, Landers J, Ruddle JB, Agar A, Galanopoulos A, White AJR, Willoughby CE, Andrew NH, Best S, Vincent AL, Goldberg I, Radford-Smith G, Martin NG, Montgomery GW, Vitart V, Hoehn R, Wojciechowski R, Jonas JB, Aung T, Pasquale LR, Cree AJ, Sivaprasad S, Vallabh NA, Viswanathan AC, Pasutto F, Haines JL, Klaver CCW, van Duijn CM, Casson RJ, Foster PJ, Khaw PT, Hammond CJ, Mackey DA, Mitchell P, Lotery AJ, Wiggs JL, Hewitt AW, MacGregor S. Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nature Genetics 2020; 52(2): 160-166.
https://doi.org/10.1038/s41588-019-0556-y
Khan M, Cornelis SS, Del Pozo-Valero M, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle, S Kamakari, M Karali, U Kellner, CCW Klaver, B Kousal, TM Lamey, IM MacDonald, A Matynia, TL McLaren H, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, De Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens C-M, Cremers FPM. Resolving the Dark Matter of ABCA4 for 1054 Stargardt Disease Probands Through Integrated Genomics and Transcriptomics. Genetics in Medicine 2020.
https://doi.org/10.1038/s41436-020-0787-4