Cited by 474Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatmentGenetics and Neurodevelopmental Disorders

22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

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Karayiorgou, Maria, Simon, Tony J., Gogos, Joseph A.·2010·Nature Reviews Neuroscience

Abstract

Recent studies are beginning to paint a clear and consistent picture of the impairments in psychological and cognitive competencies that are associated with microdeletions in chromosome 22q11.2. These studies have highlighted a strong link between this genetic lesion and schizophrenia. Parallel studies in humans and animal models are starting to uncover the complex genetic and neural substrates altered by the microdeletion. In addition to offering a deeper understanding of the effects of this genetic lesion, these findings may guide analysis of other copy-number variants associated with cognitive dysfunction and psychiatric disorders.

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Crossref · 10.1038/nrn2841

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Authors
Karayiorgou, M., Simon, T. J., & Gogos, J. A.
Affiliations
  • Columbia University Irving Medical Center (US)
  • University of California, Davis (US)
Corresponding author
Karayiorgou, Maria
Venue
Nature Reviews Neuroscience
Published
2010-06
Volume
11
Issue
6
Pages
402-416
ISSN
  • 1471-003X (ISSN-L)
  • 1471-0048
OpenAlex
W2006473457
Cited by
474
References
15
Citations by year
2026: 6 · 2025: 18 · 2024: 13 · 2023: 23 · 2022: 27 · 2021: 18 · 2020: 24 · 2019: 32 · 2018: 30 · 2017: 43 · 2016: 36 · 2015: 31 · 2014: 28 · 2013: 45 · 2012: 43
FWCI
4.86
Type
journal article
Language
en
Open access
Locations
  • Nature reviews. Neuroscience (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institute of Mental Health (R01MH067068)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD042974)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
22q11.2 microdeletion, chromosome 22q11.2, schizophrenia, copy number variation, attention deficits, cognitive impairment, brain dysfunction, animal models, mental illness
MeSH terms
Animals, Brain Diseases, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 22, Humans, Schizophrenia

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