Genetics in Medicine Open (Jan 2024)
P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study
- Nicole Si Yan Liang,
- Gregory Costain,
- Alissa D'Gama,
- Amy McTague,
- Katherine Howell,
- Vann Chau,
- Sarah Mulhern,
- Annapurna Poduri,
- Ingrid Scheffer,
- Beth Sheidley,
- Meredith Curtis,
- Edward Higginbotham,
- Tayyaba Khan,
- Lyndsey McRae,
- Kimberly Wiltrout,
- Robin Hayeems,
- Puneet Jain,
- Sebastian Lunke,
- Christian Marshall,
- Lyn Chitty,
- Shira Rockowitz,
- Zornitza Stark,
- Susan White
Affiliations
- Nicole Si Yan Liang
- The Hospital for Sick Children
- Gregory Costain
- 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
- Alissa D'Gama
- Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, Department of Pediatrics, Harvard Medical School, Boston, MA
- Amy McTague
- 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
- Katherine Howell
- Murdoch Children's Research Institute, Melbourne, VIC, Australia, Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia; Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada
- Vann Chau
- Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada
- Sarah Mulhern
- Victorian Clinical Genetics Service, Melbourne, VIC, Australia; Murdoch Children's Research Institute
- Annapurna Poduri
- Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, Department of Neurology, Harvard Medical School, Boston, MA
- Ingrid Scheffer
- Murdoch Children's Research Institute, Melbourne, VIC, Australia
- Beth Sheidley
- Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston
- Meredith Curtis
- Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada
- Edward Higginbotham
- Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada
- Tayyaba Khan
- Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada
- Lyndsey McRae
- Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada
- Kimberly Wiltrout
- Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, Department of Neurology, Harvard Medical School, Boston, MA
- Robin Hayeems
- 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
- Puneet Jain
- Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada
- Sebastian Lunke
- Victorian Clinical Genetics Service, Melbourne, VIC, Australia, Murdoch Children's Research Institute, Melbourne, VIC, Australia, Department of Pathology, University of Melbourne, Melbourne, VIC, Australia
- Christian Marshall
- Division of Genome Diagnostics, Hospital for Sick Children, Toronto, ON, Canada, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada
- Lyn Chitty
- 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
- Shira Rockowitz
- The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, Research Computing, Boston Children's Hospital, Boston, MA, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA
- Zornitza Stark
- Victorian Clinical Genetics Service, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
- Susan White
- Victorian Clinical Genetics Service, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
- Journal volume & issue
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Vol. 2
p. 101201