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. |
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| 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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