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Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation.

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Title: Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation.
Authors: Chen A; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada., Jain M; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada., Baribeau D; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.; Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada., Gibson WT; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada., Deardorff MA; Departments of Pathology and Pediatrics, Keck School of Medicine of University of Southern California, Los Angeles, CA, USA.; Personalized Care Program, Children's Hospital Los Angeles, Los Angeles, CA, USA., Alkuraya FS; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain., Nimmo G; Division of Genetics and Genomics, Department of Medicine, University Health Network, Toronto, ON, Canada., Scherer SW; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Choufani S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada., Goodman SJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada., Weksberg R; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. rweksb@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. rweksb@sickkids.ca.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada. rweksb@sickkids.ca.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada. rweksb@sickkids.ca.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada. rweksb@sickkids.ca.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul 29. Date of Electronic Publication: 2026 Jul 29.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation.
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  Data: <searchLink fieldCode="AU" term="%22Chen+A%22">Chen A</searchLink>; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Jain+M%22">Jain M</searchLink>; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Baribeau+D%22">Baribeau D</searchLink>; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.; Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Gibson+WT%22">Gibson WT</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Deardorff+MA%22">Deardorff MA</searchLink>; Departments of Pathology and Pediatrics, Keck School of Medicine of University of Southern California, Los Angeles, CA, USA.; Personalized Care Program, Children's Hospital Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Alkuraya+FS%22">Alkuraya FS</searchLink>; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Ortigoza-Escobar+JD%22">Ortigoza-Escobar JD</searchLink>; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Nimmo+G%22">Nimmo G</searchLink>; Division of Genetics and Genomics, Department of Medicine, University Health Network, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Choufani+S%22">Choufani S</searchLink>; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Goodman+SJ%22">Goodman SJ</searchLink>; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Weksberg+R%22">Weksberg R</searchLink>; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. rweksb@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. rweksb@sickkids.ca.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada. rweksb@sickkids.ca.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada. rweksb@sickkids.ca.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada. rweksb@sickkids.ca.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 Jul 29. <i>Date of Electronic Publication: </i>2026 Jul 29.
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        Value: 10.1038/s41431-026-02199-3
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              Text: 2026 Jul 29
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