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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: dubowsky a. 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.
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Sullivan PJ, Gayevskiy V, Davis RL, Wong M, Mayoh C, Mallawaarachchi A, Hort Y, McCabe MJ, Beecroft S, Jackson MR, Arts P, Dubowsky A, Laing N, Dinger ME, Scott HS, Oates E, Pinese M, Cowley MJ. Sullivan PJ, et al. Among authors: dubowsky a. Genome Biol. 2023 May 17;24(1):118. doi: 10.1186/s13059-023-02936-7. Genome Biol. 2023. PMID: 37198692 Free PMC article.
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2024 Jan;30(1):302. doi: 10.1038/s41591-023-02487-1. Nat Med. 2024. PMID: 37429925 No abstract available.
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
De Sousa SMC, Wu KHC, Colclough K, Rawlings L, Dubowsky A, Monnik M, Poplawski N, Scott HS, Horowitz M, Torpy DJ. De Sousa SMC, et al. Among authors: dubowsky a. Acta Diabetol. 2024 Feb;61(2):181-188. doi: 10.1007/s00592-023-02193-x. Epub 2023 Oct 9. Acta Diabetol. 2024. PMID: 37812285 Free PMC article.
Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.
Souzeau E, Burdon KP, Dubowsky A, Grist S, Usher B, Fitzgerald JT, Crawford A, Hewitt AW, Goldberg I, Mills RA, Ruddle JB, Landers J, Mackey DA, Craig JE. Souzeau E, et al. Among authors: dubowsky a. Ophthalmology. 2013 Jun;120(6):1135-43. doi: 10.1016/j.ophtha.2012.11.029. Epub 2013 Feb 28. Ophthalmology. 2013. PMID: 23453510
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.
Souzeau E, Hayes M, Zhou T, Siggs OM, Ridge B, Awadalla MS, Smith JE, Ruddle JB, Elder JE, Mackey DA, Hewitt AW, Healey PR, Goldberg I, Morgan WH, Landers J, Dubowsky A, Burdon KP, Craig JE. Souzeau E, et al. Among authors: dubowsky a. JAMA Ophthalmol. 2015 Jul;133(7):826-33. doi: 10.1001/jamaophthalmol.2015.0980. JAMA Ophthalmol. 2015. PMID: 25950505 Free article.
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