Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.
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| Title: | Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene. |
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| Authors: | Malaichamy S; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Canada., Polavarapu K; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Canada., Thompson R; Children's Hospital of Eastern Ontario, Ottawa, Canada., Idoux R; Children's Hospital of Eastern Ontario, Ottawa, Canada., Spendiff S; Children's Hospital of Eastern Ontario, Ottawa, Canada., Karcagi V; Molecular Genetic Laboratory, Istenhegyi Genetic Diagnostic Centre, Budapest, Hungary., Herczegfalvi A; Faculty of Medicine, Pediatric Center, Tűzoltó Street Department, Semmelweis University, Budapest, Hungary., Almomen M; Department of Pediatric Neurology, Neuroscience Center, King Fahd Specialist Hospital, Dammam, Saudi Arabia., Scola RH; Complexo Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, Brazil., Lorenzoni PJ; Complexo Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, Brazil., Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., Zambon AA; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., Camelo CG; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., Estephan EP; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.; Department of Neurological Sciences, Psychiatry, and Medical Psychology, Sao Jose do Rio Preto State Medical School, Sao Jose do Rio Preto, São Paulo, Brazil., Geetha TS; Medgenome Labs Limited, Bangalore, India., Ramprasad VL; Medgenome Labs Limited, Bangalore, India., Vengalil S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Keerthipriya M; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Baskar D; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Preethish-Kumar V; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Kotambail A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Muhmann D; Department of Neuropediatrics, University Hospital Essen, University of Duisburg, Essen, Germany., Schara-Schmidt U; Department of Neuropediatrics, University Hospital Essen, University of Duisburg, Essen, Germany., Laurie S; Centro Nacional De Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Matalonga L; Centro Nacional De Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Beltran S; Centro Nacional De Análisis Genómico (CNAG), Barcelona, Spain.; Departament de Genètica, Microbiologia I Estadistica, Facultat De Biologia, Universitat de Barcelona, Barcelona, Spain., Roos A; Department of Neuropediatrics, University Hospital Essen, University of Duisburg, Essen, Germany.; Department of Neurology With Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Bochum, Germany., Barić I; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia., Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Lochmüller H; Children's Hospital of Eastern Ontario, Ottawa, Canada. hlochmuller@toh.ca.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Canada. hlochmuller@toh.ca.; Centro Nacional De Análisis Genómico (CNAG), Barcelona, Spain. hlochmuller@toh.ca.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada. hlochmuller@toh.ca.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada. hlochmuller@toh.ca.; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany. hlochmuller@toh.ca. |
| Source: | Journal of neurology [J Neurol] 2026 Jul 20; Vol. 273 (8). Date of Electronic Publication: 2026 Jul 20. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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