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Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

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Title: Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
Authors: de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Panneman DM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Weisschuh N; Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Cadena EL; Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, TX, United States., Boonen EGM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Holtes LK; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Leijsten N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Corominas J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Skowronska A; West Midlands Regional Genetics Laboratory, Birmingham Woman's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Woodley J; West Midlands Regional Genetics Laboratory, Birmingham Woman's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Beggs AD; Institute of Cancer and Genomic Sciences, University of Birmingham, Edgbaston, United Kingdom., Toulis V; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Chen D; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Cheetham ME; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London, United Kingdom., McLaren TL; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia., Lamey TM; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia., Thompson JA; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia., Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia.; Department of Ophthalmology, Royal Perth Hospital, Perth, WA, Australia., de Roach JN; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia., Urwin IR; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia., Sullivan LS; Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, TX, United States., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Source: Frontiers in genetics [Front Genet] 2024 Oct 23; Vol. 15, pp. 1469686. Date of Electronic Publication: 2024 Oct 23 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
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  Data: Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
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  Data: <searchLink fieldCode="AU" term="%22de+Bruijn+SE%22">de Bruijn SE</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Panneman+DM%22">Panneman DM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Weisschuh+N%22">Weisschuh N</searchLink>; Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Cadena+EL%22">Cadena EL</searchLink>; Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, TX, United States.<br /><searchLink fieldCode="AU" term="%22Boonen+EGM%22">Boonen EGM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Holtes+LK%22">Holtes LK</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Astuti+GDN%22">Astuti GDN</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Cremers+FPM%22">Cremers FPM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Leijsten+N%22">Leijsten N</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Corominas+J%22">Corominas J</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Skowronska+A%22">Skowronska A</searchLink>; West Midlands Regional Genetics Laboratory, Birmingham Woman's and Children's NHS Foundation Trust, Birmingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Woodley+J%22">Woodley J</searchLink>; West Midlands Regional Genetics Laboratory, Birmingham Woman's and Children's NHS Foundation Trust, Birmingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Beggs+AD%22">Beggs AD</searchLink>; Institute of Cancer and Genomic Sciences, University of Birmingham, Edgbaston, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Toulis+V%22">Toulis V</searchLink>; UCL Institute of Ophthalmology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Chen+D%22">Chen D</searchLink>; UCL Institute of Ophthalmology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cheetham+ME%22">Cheetham ME</searchLink>; UCL Institute of Ophthalmology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hardcastle+AJ%22">Hardcastle AJ</searchLink>; UCL Institute of Ophthalmology, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22McLaren+TL%22">McLaren TL</searchLink>; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Lamey+TM%22">Lamey TM</searchLink>; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Thompson+JA%22">Thompson JA</searchLink>; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Chen+FK%22">Chen FK</searchLink>; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia.; Department of Ophthalmology, Royal Perth Hospital, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22de+Roach+JN%22">de Roach JN</searchLink>; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Urwin+IR%22">Urwin IR</searchLink>; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia.<br /><searchLink fieldCode="AU" term="%22Sullivan+LS%22">Sullivan LS</searchLink>; Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, TX, United States.<br /><searchLink fieldCode="AU" term="%22Roosing+S%22">Roosing S</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
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