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
Description
ISSN:1476-5438
DOI:10.1038/s41431-026-02199-3