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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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