Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
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| Title: | Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease. |
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| Authors: | Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Pipis M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Blake J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich NR4 7UY, UK., Poh R; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Eggleton K; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Nanji T; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. |
| Source: | Brain : a journal of neurology [Brain] 2024 Sep 03; Vol. 147 (9), pp. 3144-3156. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2156 |
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| DOI: | 10.1093/brain/awae064 |
