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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM. Williams LB, et al. Among authors: gillies mc. Genet Med. 2019 Sep;21(9):2103-2115. doi: 10.1038/s41436-019-0476-3. Epub 2019 Apr 10. Genet Med. 2019. PMID: 30967659 Free PMC article.
THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A NEW TREATMENT OUTCOME AND NATURAL HISTORY REGISTRY FOR INHERITED RETINAL DISEASE.
Simunovic MP, Moore AT, Grigg J, Sergouniotis P, Mahroo OA, Vincent A, Singh M, Fischer MD, Edwards T, Mack H, Hogden M, Chen FK, Hewitt A, Ayton L, Leroy B, Jamieson R, Gillies MC, Barthelmes D. Simunovic MP, et al. Among authors: gillies mc. Retina. 2024 Oct 10. doi: 10.1097/IAE.0000000000004296. Online ahead of print. Retina. 2024. PMID: 39418576
Anti-retinal antibodies in patients with macular telangiectasia type 2.
Zhu L, Shen W, Zhu M, Coorey NJ, Nguyen AP, Barthelmes D, Gillies MC. Zhu L, et al. Among authors: gillies mc. Invest Ophthalmol Vis Sci. 2013 Aug 21;54(8):5675-83. doi: 10.1167/iovs.13-12050. Invest Ophthalmol Vis Sci. 2013. PMID: 23882694 Free article.
243 results