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Whole genome sequencing of 10 families with optic disc drusen.

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Title: Whole genome sequencing of 10 families with optic disc drusen.
Authors: Steensberg AH; Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Glostrup, Denmark., Ovens C; Department of Ophthalmology, Save Sight Institute, The University of Sydney, Sydney, Australia., Fraser CL; Department of Ophthalmology, Save Sight Institute, The University of Sydney, Sydney, Australia., Malmqvist L; Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Glostrup, Denmark., Bertelsen M; Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark., Grønskov K; Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark., Hamann S; Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Neuro-Ophthalmology Department, Rothschild Foundation Hospital, Paris, France.
Source: Ophthalmic genetics [Ophthalmic Genet] 2025 Apr; Vol. 46 (2), pp. 174-179. Date of Electronic Publication: 2025 Jan 26.
Publication Type: Journal Article
Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Whole genome sequencing of 10 families with optic disc drusen.
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  Data: <searchLink fieldCode="AU" term="%22Steensberg+AH%22">Steensberg AH</searchLink>; Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Glostrup, Denmark.<br /><searchLink fieldCode="AU" term="%22Ovens+C%22">Ovens C</searchLink>; Department of Ophthalmology, Save Sight Institute, The University of Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Fraser+CL%22">Fraser CL</searchLink>; Department of Ophthalmology, Save Sight Institute, The University of Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Malmqvist+L%22">Malmqvist L</searchLink>; Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Glostrup, Denmark.<br /><searchLink fieldCode="AU" term="%22Bertelsen+M%22">Bertelsen M</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Grønskov+K%22">Grønskov K</searchLink>; Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Hamann+S%22">Hamann S</searchLink>; Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Neuro-Ophthalmology Department, Rothschild Foundation Hospital, Paris, France.
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  Data: <searchLink fieldCode="JN" term="%229436057%22">Ophthalmic genetics</searchLink> [Ophthalmic Genet] 2025 Apr; Vol. 46 (2), pp. 174-179. <i>Date of Electronic Publication: </i>2025 Jan 26.
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        Value: 10.1080/13816810.2025.2450469
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              Text: 2025 Apr
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