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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ISSN:1422-0067
DOI:10.3390/ijms26072850