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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: chappell a. 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.
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.
Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, Rait JL, Narita A, Mauri L, Del Longo A, Reis A, Chappell A, Kearns LS, Staffieri SE, Elder JE, Ruddle JB, Hewitt AW, Burdon KP, Mackey DA, Craig JE. Siggs OM, et al. Among authors: chappell a. JAMA Ophthalmol. 2019 Apr 1;137(4):348-355. doi: 10.1001/jamaophthalmol.2018.5646. JAMA Ophthalmol. 2019. PMID: 30653210 Free PMC article.
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.
Siggs OM, Souzeau E, Taranath DA, Dubowsky A, Chappell A, Zhou T, Javadiyan S, Nicholl J, Kearns LS, Staffieri SE, Narita A, Smith JEH, Pater J, Hewitt AW, Ruddle JB, Elder JE, Mackey DA, Burdon KP, Craig JE. Siggs OM, et al. Among authors: chappell a. Ophthalmology. 2020 Jun;127(6):758-766. doi: 10.1016/j.ophtha.2019.12.024. Epub 2020 Jan 7. Ophthalmology. 2020. PMID: 32085876
Corneal Stiffness Parameters Are Predictive of Structural and Functional Progression in Glaucoma Suspect Eyes.
Qassim A, Mullany S, Abedi F, Marshall H, Hassall MM, Kolovos A, Knight LSW, Nguyen T, Awadalla MS, Chappell A, Schulz AM, Galanopoulos A, Agar A, Healey PR, Hewitt AW, Graham SL, Landers J, Casson RJ, Siggs OM, Craig JE. Qassim A, et al. Among authors: chappell a. Ophthalmology. 2021 Jul;128(7):993-1004. doi: 10.1016/j.ophtha.2020.11.021. Epub 2020 Nov 25. Ophthalmology. 2021. PMID: 33245936
Classic features of multiple endocrine neoplasia type 2B.
Chen JY, Taranath DA, Chappell AJ, McMellon AE, Craig JE. Chen JY, et al. Among authors: chappell aj. Arch Ophthalmol. 2007 Feb;125(2):280-1. doi: 10.1001/archopht.125.2.280. Arch Ophthalmol. 2007. PMID: 17296909 No abstract available.
Prevalence and type of artefact with spectral domain optical coherence tomography macular ganglion cell imaging in glaucoma surveillance.
Awadalla MS, Fitzgerald J, Andrew NH, Zhou T, Marshall H, Qassim A, Hassall M, Casson RJ, Graham SL, Healey PR, Agar A, Galanopoulos A, Phipps S, Chappell A, Landers J, Craig JE. Awadalla MS, et al. Among authors: chappell a. PLoS One. 2018 Dec 5;13(12):e0206684. doi: 10.1371/journal.pone.0206684. eCollection 2018. PLoS One. 2018. PMID: 30517101 Free PMC article. Clinical Trial.
277 results