Healthcare professionals' knowledge and attitudes towards polygenic risk testing for glaucoma.

Autor: Hollitt GL; College of Medicine and Public Health, Flinders Health and Medical Research Institute, Flinders University, Adelaide, Australia., Keane MC; College of Medicine and Public Health, Flinders Health and Medical Research Institute, Flinders University, Adelaide, Australia., Nguyen TT; College of Medicine and Public Health, Flinders Health and Medical Research Institute, Flinders University, Adelaide, Australia., Hassall MM; College of Medicine and Public Health, Flinders Health and Medical Research Institute, Flinders University, Adelaide, Australia., Siggs OM; College of Medicine and Public Health, Flinders Health and Medical Research Institute, Flinders University, Adelaide, Australia.; Garvan Institute of Medical Research, Sydney, Australia., Craig JE; College of Medicine and Public Health, Flinders Health and Medical Research Institute, Flinders University, Adelaide, Australia., Souzeau E; College of Medicine and Public Health, Flinders Health and Medical Research Institute, Flinders University, Adelaide, Australia.

Publikováno v: Clinical & experimental ophthalmology [Clin Exp Ophthalmol] 2024 Sep 08. Date of Electronic Publication: 2024 Sep 08.

High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma.

Autor: Greatbatch CJ; Menzies Institute for Medical Research, University of Tasmania, 17 Liverpool Street, Hobart, Tasmania 7000, Australia., Lu Q; Menzies Institute for Medical Research, University of Tasmania, 17 Liverpool Street, Hobart, Tasmania 7000, Australia., Hung S; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, 32 Gisborne St, East Melbourne 3002, Australia., Barnett AJ; Menzies Institute for Medical Research, University of Tasmania, 17 Liverpool Street, Hobart, Tasmania 7000, Australia., Wing K; Menzies Institute for Medical Research, University of Tasmania, 17 Liverpool Street, Hobart, Tasmania 7000, Australia., Liang H; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, 32 Gisborne St, East Melbourne 3002, Australia., Han X; QIMR Berghofer Medical Research Institute, 300 Herston Rd, Herston, Brisbane 4006, Australia., Zhou T; Department of Ophthalmology, Flinders University, Flinders Medical Centre, 1 Flinders Dr, Bedford Park, South Australia 5042, Australia., Siggs OM; Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst, Sydney, NSW 2010, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, Short Street, St George Hospital KOGARAH UNSW, Sydney 2217, Australia., Mackey DA; Menzies Institute for Medical Research, University of Tasmania, 17 Liverpool Street, Hobart, Tasmania 7000, Australia.; Lions Eye Institute, Centre for Vision Sciences, University of Western Australia, 2 Verdun Street Nedlands WA 6009, Australia., Cook AL; Wicking Dementia Research and Education Centre, University of Tasmania, 17 Liverpool Street, Hobart, TAS 7000, Australia., Senabouth A; Garvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst, Sydney, NSW 2010, Australia., Liu GS; Menzies Institute for Medical Research, University of Tasmania, 17 Liverpool Street, Hobart, Tasmania 7000, Australia., Craig JE; Department of Ophthalmology, Flinders University, Flinders Medical Centre, 1 Flinders Dr, Bedford Park, South Australia 5042, Australia., MacGregor S; QIMR Berghofer Medical Research Institute, 300 Herston Rd, Herston, Brisbane 4006, Australia., Powell JE; Garvan-Weizmann Centre for Cellular Genomics, Garvan Institute of Medical Research, 384 Victoria St, Darlinghurst, Sydney, NSW 2010, Australia.; UNSW Cellular Genomics Futures Institute, University of New South Wales, 384 Victoria St, Darlinghurst, Sydney, NSW 2010, Australia., Hewitt AW; Menzies Institute for Medical Research, University of Tasmania, 17 Liverpool Street, Hobart, Tasmania 7000, Australia.; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, 32 Gisborne St, East Melbourne 3002, Australia.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2024 Apr 18; Vol. 33 (9), pp. 739-751.

The landscape of genomic structural variation in Indigenous Australians.

Autor: Reis ALM; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia., Rapadas M; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst, New South Wales, Australia., Hammond JM; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst, New South Wales, Australia., Gamaarachchi H; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst, New South Wales, Australia.; School of Computer Science and Engineering, University of New South Wales, Sydney, New South Wales, Australia., Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst, New South Wales, Australia., Ayuputeri Kumaheri M; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst, New South Wales, Australia., Chintalaphani SR; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia., Dissanayake DSB; National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.; Institute for Applied Ecology, University of Canberra, Canberra, Australian Capital Territory, Australia., Siggs OM; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst, New South Wales, Australia.; Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia., Hewitt AW; Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia., Llamas B; National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.; Australian Centre for Ancient DNA, School of Biological Sciences and Environment Institute, University of Adelaide, Adelaide, South Australia, Australia.; ARC Centre of Excellence for Australian Biodiversity and Heritage, University of Adelaide, Adelaide, South Australia, Australia.; Indigenous Genomics, Telethon Kids Institute, Adelaide, South Australia, Australia., Brown A; National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.; Indigenous Genomics, Telethon Kids Institute, Adelaide, South Australia, Australia., Baynam G; Telethon Kids Institute and Division of Paediatrics, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.; Genetic Services of Western Australia, Western Australian Department of Health, Perth, Western Australia, Australia.; Western Australian Register of Developmental Anomalies, Western Australian Department of Health, Perth, Western Australia, Australia., Mann GJ; National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., McMorran BJ; National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Easteal S; National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Hermes A; National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Jenkins MR; Immunology Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia., Patel HR; National Centre for Indigenous Genomics, John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia. hardip.patel@anu.edu.au., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia. i.deveson@garvan.org.au.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst, New South Wales, Australia. i.deveson@garvan.org.au.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia. i.deveson@garvan.org.au.

Publikováno v: Nature [Nature] 2023 Dec; Vol. 624 (7992), pp. 602-610. Date of Electronic Publication: 2023 Dec 13.

Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.

Autor: White S; From the Robinson Research Institute (S.W.), Faculty of Medicine and Health Sciences, University of Adelaide, Adelaide, South Australia, Australia s.white@adelaide.edu.au., Taranath A; Department of Radiology (A.T.), Women's and Children's Hospital, Adelaide, South Australia, Australia., Hanagandi P; Department of Neuroradiology (P.H.), King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Taranath DA; Department of Ophthalmology (D.A.T., M.-S.T., E.S., O.M.S., J.E.C.), Flinders University, Bedford Park, South Australia, Australia., To MS; Department of Ophthalmology (D.A.T., M.-S.T., E.S., O.M.S., J.E.C.), Flinders University, Bedford Park, South Australia, Australia., Souzeau E; Department of Ophthalmology (D.A.T., M.-S.T., E.S., O.M.S., J.E.C.), Flinders University, Bedford Park, South Australia, Australia., Siggs OM; Department of Ophthalmology (D.A.T., M.-S.T., E.S., O.M.S., J.E.C.), Flinders University, Bedford Park, South Australia, Australia.; Garvan Institute of Medical Research (O.M.S.), Darlinghurst, New South Wales, Australia., Craig JE; Department of Ophthalmology (D.A.T., M.-S.T., E.S., O.M.S., J.E.C.), Flinders University, Bedford Park, South Australia, Australia.

Publikováno v: AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2023 Oct; Vol. 44 (10), pp. 1231-1235. Date of Electronic Publication: 2023 Sep 07.

Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.

Autor: Hassall MM; Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia. mark.hassall@flinders.edu.au., Javadiyan S; Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia., Klebe S; Department of Anatomical Pathology, Flinders University, Bedford Park, SA, Australia., Awadalla MS; Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia., Sharma S; Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia., Qassim A; Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia., White M; Department of Molecular and Cellular Biology and Robinson Research Institute, University of Adelaide, Adelaide, Australia., Thomas PQ; Department of Molecular and Cellular Biology and Robinson Research Institute, University of Adelaide, Adelaide, Australia., Craig JE; Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia., Siggs OM; Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia. o.siggs@garvan.org.au.; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia. o.siggs@garvan.org.au.

Publikováno v: Scientific reports [Sci Rep] 2023 Jul 07; Vol. 13 (1), pp. 11017. Date of Electronic Publication: 2023 Jul 07.