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Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

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Title: Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.
Authors: de Boer EN; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Scheper AJ; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Hendriksen D; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Charbon B; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., van der Vries G; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Ten Berge AM; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Grootscholten PM; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Lemmink HH; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Jongbloed JDH; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Bosscher L; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Knoers NVAM; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Swertz MA; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Sikkema-Raddatz B; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Dijkstra DJ; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., Johansson LF; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands., van Diemen CC; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.
Source: International journal of molecular sciences [Int J Mol Sci] 2025 Mar 21; Vol. 26 (7). Date of Electronic Publication: 2025 Mar 21.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.
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  Data: <searchLink fieldCode="AU" term="%22de+Boer+EN%22">de Boer EN</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Scheper+AJ%22">Scheper AJ</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hendriksen+D%22">Hendriksen D</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Charbon+B%22">Charbon B</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Vries+G%22">van der Vries G</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ten+Berge+AM%22">Ten Berge AM</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Grootscholten+PM%22">Grootscholten PM</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lemmink+HH%22">Lemmink HH</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jongbloed+JDH%22">Jongbloed JDH</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bosscher+L%22">Bosscher L</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Knoers+NVAM%22">Knoers NVAM</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Swertz+MA%22">Swertz MA</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sikkema-Raddatz+B%22">Sikkema-Raddatz B</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Dijkstra+DJ%22">Dijkstra DJ</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Johansson+LF%22">Johansson LF</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Diemen+CC%22">van Diemen CC</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 CP Groningen, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%22101092791%22">International journal of molecular sciences</searchLink> [Int J Mol Sci] 2025 Mar 21; Vol. 26 (7). <i>Date of Electronic Publication: </i>2025 Mar 21.
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