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A framework for an evidence-based gene list relevant to autism spectrum disorder.
Schaaf, Christian P; Betancur, Catalina; Yuen, Ryan K C; Parr, Jeremy R; Skuse, David H; Gallagher, Louise; Bernier, Raphael A; Buchanan, Janet A; Buxbaum, Joseph D; Chen, Chun-An; Dies, Kira A; Elsabbagh, Mayada; Firth, Helen V; Frazier, Thomas; Hoang, Ny; Howe, Jennifer; Marshall, Christian R; Michaud, Jacques L; Rennie, Olivia; Szatmari, Peter; Chung, Wendy K; Bolton, Patrick F; Cook, Edwin H; Scherer, Stephen W; Vorstman, Jacob A S.
Affiliation
  • Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Betancur C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Yuen RKC; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.
  • Parr JR; Neuroscience Paris Seine, Institut de Biologie Paris Seine, Sorbonne Université, INSERM, CNRS, Paris, France.
  • Skuse DH; The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Gallagher L; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
  • Bernier RA; Population Health Science Institute, Sir James Spence Institute, Newcastle University, Royal Victoria Infirmary, Newcastle, UK.
  • Buchanan JA; Institute of Child Health, University College London, London, UK.
  • Buxbaum JD; Department of Psychiatry & Neuropsychiatric Genetics Research Group, School of Medicine, The Trinity Centre for Health Sciences, Trinity College Dublin, Dublin, Ireland.
  • Chen CA; Department of Psychiatry and Behavioral Sciences, University of Washington, Center for Child Health, Behavior, and Disabilities, Seattle, WA, USA.
  • Dies KA; Children's Autism Center, Seattle, WA, USA.
  • Elsabbagh M; The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Firth HV; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Frazier T; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Hoang N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Howe J; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Marshall CR; Montreal Neurological Institute, Azrieli Centre for Autism Research, McGill University, Montreal, QC, Canada.
  • Michaud JL; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust & Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Rennie O; Autism Speaks, Cleveland, OH, USA.
  • Szatmari P; The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Chung WK; The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Bolton PF; The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Cook EH; CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.
  • Scherer SW; The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
  • Vorstman JAS; Department of Psychiatry, Hospital for Sick Children, Toronto, ON, Canada.
Nat Rev Genet ; 21(6): 367-376, 2020 06.
Article in En | MEDLINE | ID: mdl-32317787
ABSTRACT
Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in individuals with ASD phenotypes, which requires an understanding of the level of evidence for individual NDD genes that supports an association with ASD. Consensus is currently lacking about which NDD genes have sufficient evidence to support a relationship to ASD. Estimates of the number of genes relevant to ASD differ greatly among research groups and clinical sequencing panels, varying from a few to several hundred. This Roadmap discusses important considerations necessary to provide an evidence-based framework for the curation of NDD genes based on the level of information supporting a clinically relevant relationship between a given gene and ASD.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Evidence-Based Medicine / Genetic Association Studies / Autism Spectrum Disorder Limits: Humans Language: En Journal: Nat Rev Genet Journal subject: GENETICA Year: 2020 Document type: Article Affiliation country: Germany
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Evidence-Based Medicine / Genetic Association Studies / Autism Spectrum Disorder Limits: Humans Language: En Journal: Nat Rev Genet Journal subject: GENETICA Year: 2020 Document type: Article Affiliation country: Germany