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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Loureiro, Livia O; Howe, Jennifer L; Reuter, Miriam S; Iaboni, Alana; Calli, Kristina; Roshandel, Delnaz; Pritisanac, Iva; Moses, Alan; Forman-Kay, Julie D; Trost, Brett; Zarrei, Mehdi; Rennie, Olivia; Lau, Lynette Y S; Marshall, Christian R; Srivastava, Siddharth; Godlewski, Brianna; Buttermore, Elizabeth D; Sahin, Mustafa; Hartley, Dean; Frazier, Thomas; Vorstman, Jacob; Georgiades, Stelios; Lewis, Suzanne M E; Szatmari, Peter; Bradley, Clarrisa A Lisa; Tabet, Anne-Claude; Willems, Marjolaine; Lumbroso, Serge; Piton, Amélie; Lespinasse, James; Delorme, Richard; Bourgeron, Thomas; Anagnostou, Evdokia; Scherer, Stephen W.
Afiliação
  • Loureiro LO; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Howe JL; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Reuter MS; Canada's Genomics Enterprise (CGEn), The Hospital for Sick Children, Toronto, ON, Canada.
  • Iaboni A; Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada.
  • Calli K; Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Roshandel D; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Pritisanac I; Program in Molecular Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Moses A; Department of Cell & Systems Biology, University of Toronto, Toronto, ON, Canada.
  • Forman-Kay JD; Department of Cell & Systems Biology, University of Toronto, Toronto, ON, Canada.
  • Trost B; Program in Molecular Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Zarrei M; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.
  • Rennie O; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Lau LYS; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Marshall CR; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Srivastava S; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Godlewski B; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
  • Buttermore ED; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
  • Sahin M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Hartley D; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Frazier T; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Vorstman J; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Georgiades S; Autism Speaks, New York, NY, USA.
  • Lewis SME; Autism Speaks and Department of Psychology, John Carroll University, Cleveland, OH, USA.
  • Szatmari P; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
  • Bradley CAL; Department of Psychiatry, The Hospital for Sick Children, Toronto, ON, Canada.
  • Tabet AC; Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON, Canada.
  • Willems M; Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Lumbroso S; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
  • Piton A; Department of Psychiatry, The Hospital for Sick Children, Toronto, ON, Canada.
  • Lespinasse J; Centre for Addiction and Mental Health, Toronto, ON, Canada.
  • Delorme R; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Bourgeron T; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris, F-75015, Paris, France.
  • Anagnostou E; Genetics Department, Cytogenetic Unit, Robert Debré Hospital, APHP, F-75019, Paris, France.
  • Scherer SW; Service de Génétique clinique, CH de Chambéry, Chambéry, France.
NPJ Genom Med ; 6(1): 91, 2021 Nov 04.
Article em En | MEDLINE | ID: mdl-34737294

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: NPJ Genom Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: NPJ Genom Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá País de publicação: Reino Unido