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Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

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Title: Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.
Authors: Nguyen JNH; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Ontario, Canada., Lachgar-Ruiz M; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom., Higginbotham EJ; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Coleman M; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia., Coleman J; Murdoch Children's Research Institute, Melbourne, Australia., Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, MA., Scotchman E; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.; UCL Great Ormond Street Institute of Child Health, Genetic and Genomic Medicine, London, United Kingdom., Pritchard AJ; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom., Bell KM; Murdoch Children's Research Institute, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.; UCL Great Ormond Street Institute of Child Health, Genetic and Genomic Medicine, London, United Kingdom., Christodoulou J; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia., De Fazio P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Deshwar AR; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Ontario, Canada.; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Eltze C; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom., Griffiths AJS; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia., Hassell J; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom., Jain P; Department of Paediatrics, University of Toronto, Ontario, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada., Kaliakatsos M; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.; Neurosciences Department, Great Ormond Street Hospital, London, United Kingdom., Liang NSY; Department of Molecular Genetics, University of Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Lombard P; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom., Marshall CR; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Marx C; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada., McRae L; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada., Mulhern S; Murdoch Children's Research Institute, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Paternoster B; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom., Perez Caballero A; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom., Pipko N; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Sidhu J; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, MA., Stark Z; Department of Paediatrics, University of Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Trost B; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Molecular Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., White SM; Department of Paediatrics, University of Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Yoong M; Department of Paediatric Neurology, Royal London Hospital, London, United Kingdom., Chandler NJ; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.; UCL Great Ormond Street Institute of Child Health, Genetic and Genomic Medicine, London, United Kingdom., Cross JH; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Scheffer IE; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia., Chau V; Department of Paediatrics, University of Toronto, Ontario, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada., Poduri A; Children's Rare Disease Collaborative, Boston Children's Hospital, MA.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, MA., Howell KB; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia., Stephenson SEM; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia., McTague A; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Costain G; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., D'Gama AM; Children's Rare Disease Collaborative, Boston Children's Hospital, MA.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, MA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, MA; and.; Department of Pediatrics, Harvard Medical School, Boston, MA.
Corporate Authors: Gene-STEPS Study Group, IPCHiP Executive Committee
Source: Neurology [Neurology] 2026 Mar 24; Vol. 106 (6), pp. e214645. Date of Electronic Publication: 2026 Feb 13.
Publication Type: Journal Article
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE
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  Data: Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Nguyen+JNH%22">Nguyen JNH</searchLink>; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Lachgar-Ruiz+M%22">Lachgar-Ruiz M</searchLink>; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Higginbotham+EJ%22">Higginbotham EJ</searchLink>; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Coleman+M%22">Coleman M</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Coleman+J%22">Coleman J</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Shao+W%22">Shao W</searchLink>; Children's Rare Disease Collaborative, Boston Children's Hospital, MA.<br /><searchLink fieldCode="AU" term="%22Scotchman+E%22">Scotchman E</searchLink>; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.; UCL Great Ormond Street Institute of Child Health, Genetic and Genomic Medicine, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pritchard+AJ%22">Pritchard AJ</searchLink>; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bell+KM%22">Bell KM</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Chitty+LS%22">Chitty LS</searchLink>; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.; UCL Great Ormond Street Institute of Child Health, Genetic and Genomic Medicine, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22De+Fazio+P%22">De Fazio P</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Deshwar+AR%22">Deshwar AR</searchLink>; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Ontario, Canada.; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Eltze+C%22">Eltze C</searchLink>; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Griffiths+AJS%22">Griffiths AJS</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Hassell+J%22">Hassell J</searchLink>; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Jain+P%22">Jain P</searchLink>; Department of Paediatrics, University of Toronto, Ontario, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Kaliakatsos+M%22">Kaliakatsos M</searchLink>; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.; Neurosciences Department, Great Ormond Street Hospital, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Liang+NSY%22">Liang NSY</searchLink>; Department of Molecular Genetics, University of Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Lombard+P%22">Lombard P</searchLink>; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Marshall+CR%22">Marshall CR</searchLink>; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Marx+C%22">Marx C</searchLink>; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22McRae+L%22">McRae L</searchLink>; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Mulhern+S%22">Mulhern S</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Paternoster+B%22">Paternoster B</searchLink>; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Perez+Caballero+A%22">Perez Caballero A</searchLink>; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pipko+N%22">Pipko N</searchLink>; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Sidhu+J%22">Sidhu J</searchLink>; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Smith+L%22">Smith L</searchLink>; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, MA.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Department of Paediatrics, University of Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Trost+B%22">Trost B</searchLink>; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Molecular Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Wakeling+E%22">Wakeling E</searchLink>; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22White+SM%22">White SM</searchLink>; Department of Paediatrics, University of Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Yoong+M%22">Yoong M</searchLink>; Department of Paediatric Neurology, Royal London Hospital, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Chandler+NJ%22">Chandler NJ</searchLink>; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.; UCL Great Ormond Street Institute of Child Health, Genetic and Genomic Medicine, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cross+JH%22">Cross JH</searchLink>; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Chau+V%22">Chau V</searchLink>; Department of Paediatrics, University of Toronto, Ontario, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Poduri+A%22">Poduri A</searchLink>; Children's Rare Disease Collaborative, Boston Children's Hospital, MA.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, MA.<br /><searchLink fieldCode="AU" term="%22Howell+KB%22">Howell KB</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Stephenson+SEM%22">Stephenson SEM</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Australia.; 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