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An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

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Title: An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.
Authors: Bradley CA; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. lisa.bradley@sickkids.ca.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. lisa.bradley@sickkids.ca.; Program in Neurosciences & Mental Health, The Hospital for Sick Children, Toronto, Ontario, Canada. lisa.bradley@sickkids.ca., Ko SY; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Neurosciences & Mental Health, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Brain and Cognitive Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea., Tian M; Tanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Ralph LT; Tanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Department of Physiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., D'Abate L; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Lee J; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Department of Physiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Liu T; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Electrical & Computer Engineering, University of Toronto, Toronto, Ontario, Canada.; Vector Institute, Toronto, Ontario, Canada., Wang J; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada., Tidball P; Tanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada., Mendes M; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Fan X; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Howe JL; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Alexandrova R; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Pellecchia G; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Casallo G; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Paton T; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Wybenga-Groot LE; SPARC BioCentre, The Hospital for Sick Children, Toronto, Ontario, Canada., Engchuan W; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Thiruvahindrapuram B; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Trost B; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Molecular Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., de Rijke J; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Kadia A; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada., Jin F; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada., Salazar NB; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Diaz-Mejia JJ; Phenomic AI, Toronto, Ontario, Canada., MacDonald JR; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Deneault E; Regulatory Research Division, Centre for Oncology, Radiopharmaceuticals and Research, Biologic and Radiopharmaceutical Drugs Directorate, Health Products and Food Branch, Health Canada, Ottawa, Ontario, Canada., Ross PJ; Department of Biology, University of Prince Edward Island, Charlottetown, Prince Edward Island, Canada., Ellis J; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Program in Developmental, Stem Cell and Cancer Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Shum C; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Georgiou J; Tanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada., Rennie O; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Reuter MS; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Hoang N; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Sarikaya E; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Selvanayagam T; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Amini AE; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Department of Physiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Rutherford A; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Rivera-Alfaro N; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada., Scala M; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Runke CK; Division of Laboratory Genetics & Genomics-Hereditary Section, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Kearney HM; Division of Laboratory Genetics & Genomics-Hereditary Section, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia and Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia., Francis DI; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Chung BHY; Paediatrics & Adolescent Medicine, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong, China., Pluciniczak J; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Iaboni A; Holland Bloorview Kids Rehabilitation Hospital, Bloorview Research Institute, Toronto, Ontario, Canada., Wigby KM; Department of Psychiatry and Behavioral Sciences, The MIND Institute University of California, Davis, CA, USA., Nordahl CW; Department of Psychiatry and Behavioral Sciences, The MIND Institute University of California, Davis, CA, USA., Amaral DG; Department of Psychiatry and Behavioral Sciences, The MIND Institute University of California, Davis, CA, USA., Hudson ML; Queen's Genomics Lab at Ongwanada (QGLO), Ongwanada Resource Center and Department of Psychiatry, Queen's University, Kingston, Ontario, Canada., Sjaarda CP; Queen's Genomics Lab at Ongwanada (QGLO), Ongwanada Resource Center and Department of Psychiatry, Queen's University, Kingston, Ontario, Canada., Guerin A; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, Ontario, Canada., Elsabbagh M; Azrieli Centre for Autism Research, Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec, Canada., Landa R; Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD, USA., Mital S; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Ted Rogers Centre for Heart Research, Toronto, Ontario, Canada., Lesurf R; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Jain A; The Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Wilson MD; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Ellegood J; Holland Bloorview Kids Rehabilitation Hospital, Bloorview Research Institute, Toronto, Ontario, Canada.; Mouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada., Lerch JP; Mouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada.; Wellcome Centre for Integrative Neuroimaging, University of Oxford, Oxford, UK., Lee LJ; Department of Electrical & Computer Engineering, University of Toronto, Toronto, Ontario, Canada.; Vector Institute, Toronto, Ontario, Canada., Frey BJ; Department of Electrical & Computer Engineering, University of Toronto, Toronto, Ontario, Canada.; Vector Institute, Toronto, Ontario, Canada., Salter MW; Program in Neurosciences & Mental Health, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Physiology and Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Vorstman JAS; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Psychiatry, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Psychiatry, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Anagnostou E; Holland Bloorview Kids Rehabilitation Hospital, Bloorview Research Institute, Toronto, Ontario, Canada.; Department of Pediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Frankland PW; Program in Neurosciences & Mental Health, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Physiology and Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Department of Psychology, University of Toronto, Toronto, Ontario, Canada., Collingridge GL; Tanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Department of Physiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Scherer SW; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.; McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.
Source: Nature [Nature] 2026 Jul; Vol. 655 (8122), pp. 418-428. Date of Electronic Publication: 2026 May 13.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE
Database: MEDLINE Ultimate
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Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42129557
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.
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  Label: Authors
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Tanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Ralph+LT%22">Ralph LT</searchLink>; Tanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Department of Physiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22D'Abate+L%22">D'Abate L</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Department of Physiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Liu+T%22">Liu T</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Electrical & Computer Engineering, University of Toronto, Toronto, Ontario, Canada.; Vector Institute, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Wang+J%22">Wang J</searchLink>; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Tidball+P%22">Tidball P</searchLink>; Tanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Mendes+M%22">Mendes M</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Fan+X%22">Fan X</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Howe+JL%22">Howe JL</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Alexandrova+R%22">Alexandrova R</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Pellecchia+G%22">Pellecchia G</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Casallo+G%22">Casallo G</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Paton+T%22">Paton T</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Wybenga-Groot+LE%22">Wybenga-Groot LE</searchLink>; SPARC BioCentre, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Engchuan+W%22">Engchuan W</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Thiruvahindrapuram+B%22">Thiruvahindrapuram B</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Trost+B%22">Trost B</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & 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="%22de+Rijke+J%22">de Rijke J</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Kadia+A%22">Kadia A</searchLink>; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Jin+F%22">Jin F</searchLink>; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Salazar+NB%22">Salazar NB</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Diaz-Mejia+JJ%22">Diaz-Mejia JJ</searchLink>; Phenomic AI, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22MacDonald+JR%22">MacDonald JR</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Deneault+E%22">Deneault E</searchLink>; Regulatory Research Division, Centre for Oncology, Radiopharmaceuticals and Research, Biologic and Radiopharmaceutical Drugs Directorate, Health Products and Food Branch, Health Canada, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Ross+PJ%22">Ross PJ</searchLink>; Department of Biology, University of Prince Edward Island, Charlottetown, Prince Edward Island, Canada.<br /><searchLink fieldCode="AU" term="%22Ellis+J%22">Ellis J</searchLink>; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Program in Developmental, Stem Cell and Cancer Biology, Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Shum+C%22">Shum C</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Georgiou+J%22">Georgiou J</searchLink>; Tanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Rennie+O%22">Rennie O</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Reuter+MS%22">Reuter MS</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Hoang+N%22">Hoang N</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Sarikaya+E%22">Sarikaya E</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Selvanayagam+T%22">Selvanayagam T</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Amini+AE%22">Amini AE</searchLink>; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Department of Physiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Rutherford+A%22">Rutherford A</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Rivera-Alfaro+N%22">Rivera-Alfaro N</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Marshall+CR%22">Marshall CR</searchLink>; Genome Diagnostics, Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Scala+M%22">Scala M</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Runke+CK%22">Runke CK</searchLink>; Division of Laboratory Genetics & Genomics-Hereditary Section, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Kearney+HM%22">Kearney HM</searchLink>; Division of Laboratory Genetics & Genomics-Hereditary Section, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia and Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Francis+DI%22">Francis DI</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Chung+BHY%22">Chung BHY</searchLink>; Paediatrics & Adolescent Medicine, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Pluciniczak+J%22">Pluciniczak J</searchLink>; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Iaboni+A%22">Iaboni A</searchLink>; Holland Bloorview Kids Rehabilitation Hospital, Bloorview Research Institute, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Wigby+KM%22">Wigby KM</searchLink>; Department of Psychiatry and Behavioral Sciences, The MIND Institute University of California, Davis, CA, USA.<br /><searchLink fieldCode="AU" term="%22Nordahl+CW%22">Nordahl CW</searchLink>; Department of Psychiatry and Behavioral Sciences, The MIND Institute University of California, Davis, CA, USA.<br /><searchLink fieldCode="AU" term="%22Amaral+DG%22">Amaral DG</searchLink>; Department of Psychiatry and Behavioral Sciences, The MIND Institute University of California, Davis, CA, USA.<br /><searchLink fieldCode="AU" term="%22Hudson+ML%22">Hudson ML</searchLink>; Queen's Genomics Lab at Ongwanada (QGLO), Ongwanada Resource Center and Department of Psychiatry, Queen's University, Kingston, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Sjaarda+CP%22">Sjaarda CP</searchLink>; Queen's Genomics Lab at Ongwanada (QGLO), Ongwanada Resource Center and Department of Psychiatry, Queen's University, Kingston, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Guerin+A%22">Guerin A</searchLink>; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Elsabbagh+M%22">Elsabbagh M</searchLink>; Azrieli Centre for Autism Research, Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Landa+R%22">Landa R</searchLink>; Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Mital+S%22">Mital S</searchLink>; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Ted Rogers Centre for Heart Research, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Lesurf+R%22">Lesurf R</searchLink>; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Jain+A%22">Jain A</searchLink>; The Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Wilson+MD%22">Wilson MD</searchLink>; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Ellegood+J%22">Ellegood J</searchLink>; Holland Bloorview Kids Rehabilitation Hospital, Bloorview Research Institute, Toronto, Ontario, Canada.; Mouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Lerch+JP%22">Lerch JP</searchLink>; Mouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada.; Wellcome Centre for Integrative Neuroimaging, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Lee+LJ%22">Lee LJ</searchLink>; Department of Electrical & Computer Engineering, University of Toronto, Toronto, Ontario, Canada.; Vector Institute, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Frey+BJ%22">Frey BJ</searchLink>; Department of Electrical & Computer Engineering, University of Toronto, Toronto, Ontario, Canada.; Vector Institute, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Salter+MW%22">Salter MW</searchLink>; Program in Neurosciences & Mental Health, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Physiology and Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Vorstman+JAS%22">Vorstman JAS</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Psychiatry, 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="%22Anagnostou+E%22">Anagnostou E</searchLink>; Holland Bloorview Kids Rehabilitation Hospital, Bloorview Research Institute, Toronto, Ontario, Canada.; Department of Pediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Frankland+PW%22">Frankland PW</searchLink>; Program in Neurosciences & Mental Health, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Physiology and Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Department of Psychology, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Collingridge+GL%22">Collingridge GL</searchLink>; Tanz Centre for Research in Neurodegenerative Diseases, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Department of Physiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; The Centre for Applied Genomics, Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.; Program in Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.; McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.
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  Data: <searchLink fieldCode="JN" term="%220410462%22">Nature</searchLink> [Nature] 2026 Jul; Vol. 655 (8122), pp. 418-428. <i>Date of Electronic Publication: </i>2026 May 13.
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              Text: 2026 Jul
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