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Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry.
Knight LSW, Ruddle JB, Taranath DA, Goldberg I, Smith JEH, Gole G, Chiang MY, Willett F, D'Mellow G, Breen J, Qassim A, Mullany S, Elder JE, Vincent AL, Staffieri SE, Kearns LS, Mackey DA, Luu S, Siggs OM, Souzeau E, Craig JE. Knight LSW, et al. Among authors: breen j. Ophthalmology. 2021 Nov;128(11):1549-1560. doi: 10.1016/j.ophtha.2021.04.016. Epub 2021 Apr 20. Ophthalmology. 2021. PMID: 33892047 Free article.
RNA Sequencing of Lens Capsular Epithelium Implicates Novel Pathways in Pseudoexfoliation Syndrome.
Mullany S, Marshall H, Zhou T, Thomson D, Schmidt JM, Qassim A, Knight LSW, Hollitt G, Berry EC, Nguyen T, To MS, Dimasi D, Kuot A, Dubowsky J, Fogarty R, Sun M, Chehade L, Kuruvilla S, Supramaniam D, Breen J, Sharma S, Landers J, Lake S, Mills RA, Hassall MM, Chan WO, Klebe S, Souzeau E, Siggs OM, Craig JE. Mullany S, et al. Among authors: breen j. Invest Ophthalmol Vis Sci. 2022 Mar 2;63(3):26. doi: 10.1167/iovs.63.3.26. Invest Ophthalmol Vis Sci. 2022. PMID: 35348588 Free PMC article.
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
Souzeau E, Siggs OM, Mullany S, Schmidt JM, Hassall MM, Dubowsky A, Chappell A, Breen J, Bae H, Nicholl J, Hadler J, Kearns LS, Staffieri SE, Hewitt AW, Mackey DA, Gupta A, Burdon KP, Klebe S, Craig JE, Mills RA. Souzeau E, et al. Among authors: breen j. Mol Genet Genomic Med. 2022 Oct;10(10):e2023. doi: 10.1002/mgg3.2023. Epub 2022 Aug 19. Mol Genet Genomic Med. 2022. PMID: 35985662 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, Bennetts… See abstract for full author list ➔ Bournazos AM, et al. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
521 results