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Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders

We describe a project aimed at studying a large number of individuals (>200) with specific recurrent genetic variations (deletion or duplication of segment 16p11.2) that increase the risk of developing autism spectrum (ASD) and other developmental disorders. The genetics-first approach augmented by... Full description

Journal Title: Neuron 2012, Vol.73 (6), p.1063-1067
Main Author: Consortium, The Simons Vip
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: United States: Elsevier Inc
ID: ISSN: 0896-6273
Link: https://www.ncbi.nlm.nih.gov/pubmed/22445335
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title: Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders
format: Article
creator:
  • Consortium, The Simons Vip
subjects:
  • Adolescent
  • Autism
  • Bipolar disorder
  • Child
  • Child Development Disorders, Pervasive - diagnosis
  • Child Development Disorders, Pervasive - genetics
  • Child Development Disorders, Pervasive - physiopathology
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 16 - genetics
  • Developmental Disabilities - diagnosis
  • Developmental Disabilities - genetics
  • Developmental Disabilities - physiopathology
  • Family Health
  • Female
  • Genetic Predisposition to Disease - genetics
  • Genetic research
  • Genetic Testing
  • Genetics
  • Humans
  • Infant
  • Information Dissemination
  • Male
  • Medical research
  • Medicine, Experimental
  • Mental disorders
  • Nervous system diseases
  • Neurodegenerative Diseases - diagnosis
  • Neurodegenerative Diseases - genetics
  • Neurodegenerative Diseases - physiopathology
  • Neurodevelopmental disorders
  • Neuroimaging
  • Neurophysiology
  • Neuroscience(all)
  • Phenotype
  • Recruitment
  • Retrospective Studies
  • Studies
  • Vasoactive intestinal peptide
ispartof: Neuron, 2012, Vol.73 (6), p.1063-1067
description: We describe a project aimed at studying a large number of individuals (>200) with specific recurrent genetic variations (deletion or duplication of segment 16p11.2) that increase the risk of developing autism spectrum (ASD) and other developmental disorders. The genetics-first approach augmented by web-based recruitment, multisite collaboration and calibration, and robust data-sharing policies could be adopted by other groups studying neuropsychiatric disorders to accelerate the pace of research.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0896-6273
fulltext: fulltext
issn:
  • 0896-6273
  • 1097-4199
url: Link


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descriptionWe describe a project aimed at studying a large number of individuals (>200) with specific recurrent genetic variations (deletion or duplication of segment 16p11.2) that increase the risk of developing autism spectrum (ASD) and other developmental disorders. The genetics-first approach augmented by web-based recruitment, multisite collaboration and calibration, and robust data-sharing policies could be adopted by other groups studying neuropsychiatric disorders to accelerate the pace of research.
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subjectAdolescent ; Autism ; Bipolar disorder ; Child ; Child Development Disorders, Pervasive - diagnosis ; Child Development Disorders, Pervasive - genetics ; Child Development Disorders, Pervasive - physiopathology ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 16 - genetics ; Developmental Disabilities - diagnosis ; Developmental Disabilities - genetics ; Developmental Disabilities - physiopathology ; Family Health ; Female ; Genetic Predisposition to Disease - genetics ; Genetic research ; Genetic Testing ; Genetics ; Humans ; Infant ; Information Dissemination ; Male ; Medical research ; Medicine, Experimental ; Mental disorders ; Nervous system diseases ; Neurodegenerative Diseases - diagnosis ; Neurodegenerative Diseases - genetics ; Neurodegenerative Diseases - physiopathology ; Neurodevelopmental disorders ; Neuroimaging ; Neurophysiology ; Neuroscience(all) ; Phenotype ; Recruitment ; Retrospective Studies ; Studies ; Vasoactive intestinal peptide
ispartofNeuron, 2012, Vol.73 (6), p.1063-1067
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2Bipolar disorder
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6Child Development Disorders, Pervasive - physiopathology
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26Nervous system diseases
27Neurodegenerative Diseases - diagnosis
28Neurodegenerative Diseases - genetics
29Neurodegenerative Diseases - physiopathology
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34Phenotype
35Recruitment
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abstractWe describe a project aimed at studying a large number of individuals (>200) with specific recurrent genetic variations (deletion or duplication of segment 16p11.2) that increase the risk of developing autism spectrum (ASD) and other developmental disorders. The genetics-first approach augmented by web-based recruitment, multisite collaboration and calibration, and robust data-sharing policies could be adopted by other groups studying neuropsychiatric disorders to accelerate the pace of research.
copUnited States
pubElsevier Inc
pmid22445335
doi10.1016/j.neuron.2012.02.014
oafree_for_read