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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2024.1469686 |
