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Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.
Souzeau E, Siggs OM, Zhou T, Galanopoulos A, Hodson T, Taranath D, Mills RA, Landers J, Pater J, Smith JE, Elder JE, Rait JL, Giles P, Phakey V, Staffieri SE, Kearns LS, Dubowsky A, Mackey DA, Hewitt AW, Ruddle JB, Burdon KP, Craig JE. Souzeau E, et al. Among authors: pater j. Eur J Hum Genet. 2017 Jun;25(7):839-847. doi: 10.1038/ejhg.2017.59. Epub 2017 May 17. Eur J Hum Genet. 2017. PMID: 28513611 Free PMC article.
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.
Souzeau E, Siggs OM, Zhou T, Galanopoulos A, Hodson T, Taranath D, Mills RA, Landers J, Pater J, Smith JE, Elder JE, Rait JL, Giles P, Phakey V, Staffieri SE, Kearns LS, Dubowsky A, Mackey DA, Hewitt AW, Ruddle JB, Burdon KP, Craig JE. Souzeau E, et al. Among authors: pater j. Eur J Hum Genet. 2017 Nov;25(11):1290. doi: 10.1038/ejhg.2017.147. Eur J Hum Genet. 2017. PMID: 29023440 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: pater j. Ophthalmology. 2020 Jun;127(6):758-766. doi: 10.1016/j.ophtha.2019.12.024. Epub 2020 Jan 7. Ophthalmology. 2020. PMID: 32085876
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: pater j. JAMA Ophthalmol. 2019 Apr 1;137(4):348-355. doi: 10.1001/jamaophthalmol.2018.5646. JAMA Ophthalmol. 2019. PMID: 30653210 Free PMC article.
Pathogenic genetic variants identified in Australian families with paediatric cataract.
Jones JL, McComish BJ, Staffieri SE, Souzeau E, Kearns LS, Elder JE, Charlesworth JC, Mackey DA, Ruddle JB, Taranath D, Pater J, Casey T, Craig JE, Burdon KP. Jones JL, et al. Among authors: pater j. BMJ Open Ophthalmol. 2022 Aug;7(1):e001064. doi: 10.1136/bmjophth-2022-001064. BMJ Open Ophthalmol. 2022. PMID: 36161833 Free PMC article.
576 results