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Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?

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Title: Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
Authors: Mackey DA; Menzies Institute for Medical Research, School of Medicine, University of Tasmania, Hobart, 7000 TAS, Australia; The University of Western Australia, Centre for Ophthalmology and Visual Science, Lions Eye Institute, Nedlands, 6009 WA, Australia; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia. Electronic address: david.mackey@lei.org.au., Ong JS; Statistical Genetics Laboratory, Population Health Department, QIMR Berghofer Medical Research Institute, Brisbane, 4006 QLD, Australia., MacGregor S; Statistical Genetics Laboratory, Population Health Department, QIMR Berghofer Medical Research Institute, Brisbane, 4006 QLD, Australia., Whiteman DC; Cancer Control Group, QIMR Berghofer Medical Research Institute, Brisbane, 4006 QLD, Australia., Craig JE; Flinders Medical Centre, Flinders University, Bedford Park, SA 5042, Australia., Lopez Sanchez MIG; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia; Ophthalmology, University of Melbourne, Department of Surgery, Parkville, 3010 VIC, Australia., Kearns LS; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia., Staffieri SE; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia; Ophthalmology, University of Melbourne, Department of Surgery, Parkville, 3010 VIC, Australia., Clarke L; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia., McGuinness MB; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia., Meteoukki W; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia., Samuel S; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia., Ruddle JB; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia; Ophthalmology, University of Melbourne, Department of Surgery, Parkville, 3010 VIC, Australia., Chen C; Flinders Medical Centre, Flinders University, Bedford Park, SA 5042, Australia., Fraser CL; Save Sight Institute, Discipline of Ophthalmology, Faculty of Health and Medicine, The University of Sydney, Sydney, 2000 NSW, Australia., Harrison J; Department of Ophthalmology, Royal Brisbane and Women's Hospital, Herston, 4006 QLD Australia., Howell N; Neil Howell, San Diego, CA, USA., Hewitt AW; Menzies Institute for Medical Research, School of Medicine, University of Tasmania, Hobart, 7000 TAS, Australia; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia.
Source: American journal of human genetics [Am J Hum Genet] 2023 Jan 05; Vol. 110 (1), pp. 170-176. Date of Electronic Publication: 2022 Dec 23.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Mackey+DA%22">Mackey DA</searchLink>; Menzies Institute for Medical Research, School of Medicine, University of Tasmania, Hobart, 7000 TAS, Australia; The University of Western Australia, Centre for Ophthalmology and Visual Science, Lions Eye Institute, Nedlands, 6009 WA, Australia; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia. Electronic address: david.mackey@lei.org.au.<br /><searchLink fieldCode="AU" term="%22Ong+JS%22">Ong JS</searchLink>; Statistical Genetics Laboratory, Population Health Department, QIMR Berghofer Medical Research Institute, Brisbane, 4006 QLD, Australia.<br /><searchLink fieldCode="AU" term="%22MacGregor+S%22">MacGregor S</searchLink>; Statistical Genetics Laboratory, Population Health Department, QIMR Berghofer Medical Research Institute, Brisbane, 4006 QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Whiteman+DC%22">Whiteman DC</searchLink>; Cancer Control Group, QIMR Berghofer Medical Research Institute, Brisbane, 4006 QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Craig+JE%22">Craig JE</searchLink>; Flinders Medical Centre, Flinders University, Bedford Park, SA 5042, Australia.<br /><searchLink fieldCode="AU" term="%22Lopez+Sanchez+MIG%22">Lopez Sanchez MIG</searchLink>; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia; Ophthalmology, University of Melbourne, Department of Surgery, Parkville, 3010 VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Kearns+LS%22">Kearns LS</searchLink>; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Staffieri+SE%22">Staffieri SE</searchLink>; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia; Ophthalmology, University of Melbourne, Department of Surgery, Parkville, 3010 VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Clarke+L%22">Clarke L</searchLink>; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia.<br /><searchLink fieldCode="AU" term="%22McGuinness+MB%22">McGuinness MB</searchLink>; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Meteoukki+W%22">Meteoukki W</searchLink>; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Samuel+S%22">Samuel S</searchLink>; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Ruddle+JB%22">Ruddle JB</searchLink>; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia; Ophthalmology, University of Melbourne, Department of Surgery, Parkville, 3010 VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Chen+C%22">Chen C</searchLink>; Flinders Medical Centre, Flinders University, Bedford Park, SA 5042, Australia.<br /><searchLink fieldCode="AU" term="%22Fraser+CL%22">Fraser CL</searchLink>; Save Sight Institute, Discipline of Ophthalmology, Faculty of Health and Medicine, The University of Sydney, Sydney, 2000 NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Harrison+J%22">Harrison J</searchLink>; Department of Ophthalmology, Royal Brisbane and Women's Hospital, Herston, 4006 QLD Australia.<br /><searchLink fieldCode="AU" term="%22Howell+N%22">Howell N</searchLink>; Neil Howell, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Hewitt+AW%22">Hewitt AW</searchLink>; Menzies Institute for Medical Research, School of Medicine, University of Tasmania, Hobart, 7000 TAS, Australia; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2023 Jan 05; Vol. 110 (1), pp. 170-176. <i>Date of Electronic Publication: </i>2022 Dec 23.
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