Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.

Autor: D'Gama AM; Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Mulhern S; Victorian Clinical Genetics Service, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Sheidley BR; Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Boodhoo F; Department of Neurology, Great Ormond Street Hospital, London, UK., Buts S; Department of Paediatric Neurology, Aachen University Hospital, Germany., Chandler NJ; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK., Cobb J; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Curtis M; Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada., Higginbotham EJ; Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada., Holland J; Department of Neurology, Great Ormond Street Hospital, London, UK., Khan T; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada., Koh J; Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Liang NSY; Department of Genetic Counselling, Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., McRae L; Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada., Nesbitt SE; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Oby BT; Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Paternoster B; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK., Patton A; Department of Paediatrics, Frimley Park Hospital, Frimley Health NHS Foundation Trust, Frimley, UK., Rose G; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK., Scotchman E; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK., Valentine R; Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Wiltrout KN; Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA., Hayeems RZ; Program in Child Health Evaluative Sciences, SickKids Research Institute, Toronto, ON, Canada; Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON, Canada., Jain P; Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada., Lunke S; Victorian Clinical Genetics Service, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Pathology, University of Melbourne, Melbourne, VIC, Australia., Marshall CR; Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Rockowitz S; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Research Computing, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Sebire NJ; DRIVE Centre, Great Ormond Street Hospital for Children, London, UK., Stark Z; Victorian Clinical Genetics Service, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., White SM; Victorian Clinical Genetics Service, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Cross JH; Department of Neurology, Great Ormond Street Hospital, London, UK; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK., Scheffer IE; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Department of Medicine, University of Melbourne, Melbourne, VIC, Australia; Austin Health, and Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia., Chau V; Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada., Costain G; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada., Poduri A; Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA., Howell KB; Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia., McTague A; Department of Neurology, Great Ormond Street Hospital, London, UK; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK. Electronic address: a.mctague@ucl.ac.uk.

Publikováno v: The Lancet. Neurology [Lancet Neurol] 2023 Sep; Vol. 22 (9), pp. 812-825.

After genomic testing results: Parents' long-term views.

Autor: Liang NSY; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada., Adam S; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Elliott AM; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Women's Health Research Institute, Vancouver, BC, Canada., Siemens A; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada., du Souich C; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Friedman JM; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada., Birch P; Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; BC Children's Hospital Research Institute, Vancouver, BC, Canada.

Publikováno v: Journal of genetic counseling [J Genet Couns] 2022 Feb; Vol. 31 (1), pp. 82-95. Date of Electronic Publication: 2021 Jun 24.