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Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.

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Title: Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.
Authors: Selvanayagam T; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Hoang N; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Sarikaya E; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada., Howe J; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada., Russell C; Offord Centre for Child Studies, McMaster University, Hamilton, Ontario, Canada., Iaboni A; Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada., Quirbach M; Autism Speaks, Washington, DC, Virginia, USA., Marshall CR; Genome Diagnostics, Department of Paediatric Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Szatmari P; Department of Psychiatry, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Psychiatry, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Anagnostou E; Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.; Department of Pediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Vorstman J; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Psychiatry, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Psychiatry, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Hartley DM; Autism Speaks, Washington, DC, Virginia, USA., Scherer SW; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada stephen.scherer@sickkids.ca.; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; McLaughlin Centre, Toronto, Ontario, Canada.
Source: Journal of medical genetics [J Med Genet] 2025 May 27; Vol. 62 (6), pp. 413-421. Date of Electronic Publication: 2025 May 27.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Selvanayagam+T%22">Selvanayagam T</searchLink>; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Hoang+N%22">Hoang N</searchLink>; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Sarikaya+E%22">Sarikaya E</searchLink>; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Howe+J%22">Howe J</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Russell+C%22">Russell C</searchLink>; Offord Centre for Child Studies, McMaster University, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Iaboni+A%22">Iaboni A</searchLink>; Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Quirbach+M%22">Quirbach M</searchLink>; Autism Speaks, Washington, DC, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Marshall+CR%22">Marshall CR</searchLink>; Genome Diagnostics, Department of Paediatric Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Szatmari+P%22">Szatmari P</searchLink>; Department of Psychiatry, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Psychiatry, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Centre for Addiction and Mental Health, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Anagnostou+E%22">Anagnostou E</searchLink>; Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.; Department of Pediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Vorstman+J%22">Vorstman J</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Psychiatry, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Psychiatry, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Hartley+DM%22">Hartley DM</searchLink>; Autism Speaks, Washington, DC, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada stephen.scherer@sickkids.ca.; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; McLaughlin Centre, Toronto, Ontario, Canada.
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        Value: 10.1136/jmg-2024-110463
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        Text: English
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        StartPage: 413
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