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UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.

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Title: UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.
Authors: Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Salazar NB; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Howe JL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Hoang N; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, Canada., Sarikaya E; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, Canada., Selvanayagam T; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, Canada., Mendes de Aquino M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Vicente AM; Departamento de Promoção da Saúde e Prevenção de Doenças Não-Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal., Oliveira G; Child Developmental Centre, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Faculty of Medicine, University Clinic of Pediatrics, University of Coimbra, Coimbra, Portugal., Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany., Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Trost B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada. stephen.scherer@sickkids.ca.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. stephen.scherer@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. stephen.scherer@sickkids.ca.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. stephen.scherer@sickkids.ca.
Source: NPJ genomic medicine [NPJ Genom Med] 2025 Nov 29; Vol. 11 (1), pp. 1. Date of Electronic Publication: 2025 Nov 29.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
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  Data: UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.
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  Data: <searchLink fieldCode="AU" term="%22Reuter+MS%22">Reuter MS</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Salazar+NB%22">Salazar NB</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Howe+JL%22">Howe JL</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Hoang+N%22">Hoang N</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Sarikaya+E%22">Sarikaya E</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Selvanayagam+T%22">Selvanayagam T</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Mendes+de+Aquino+M%22">Mendes de Aquino M</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Vicente+AM%22">Vicente AM</searchLink>; Departamento de Promoção da Saúde e Prevenção de Doenças Não-Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal.<br /><searchLink fieldCode="AU" term="%22Oliveira+G%22">Oliveira G</searchLink>; Child Developmental Centre, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Faculty of Medicine, University Clinic of Pediatrics, University of Coimbra, Coimbra, Portugal.<br /><searchLink fieldCode="AU" term="%22Freitag+CM%22">Freitag CM</searchLink>; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Thiruvahindrapuram+B%22">Thiruvahindrapuram B</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Trost+B%22">Trost B</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada. stephen.scherer@sickkids.ca.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. stephen.scherer@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. stephen.scherer@sickkids.ca.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. stephen.scherer@sickkids.ca.
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