ReviewBehavior genetics2011
Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.
Review in Behavior genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
51 citing papers in PubMed, 117 citations in OpenAlex.
- Divergent transcriptomic pathways underlie sex-biased cognitive rescue by developmental GSK3B inhibition in a mouse model of 22q11.2 deletion syndrome.Translational psychiatry · 2026Article
- Disorganized Inhibitory Dynamics in Hippocampal area CA1 of 22q11.2 Deletion Mutant Mice.bioRxiv : the preprint server for biology · 2026Article
- Altered developmental trajectories of verbal learning skills in 22q11.2DS: associations with hippocampal development and psychosis.Psychological medicine · 2023Article
- Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis.Journal of neurodevelopmental disorders · 2023Review
- Structural Cerebellar Abnormalities and Parkinsonism in Patients with 22q11.2 Deletion Syndrome.Brain sciences · 2022Article
- Surgical insights and management in patients with the 22q11.2 deletion syndrome.Pediatric surgery international · 2022Article
- Eye Direction Detection and Perception as Premises of a Social Brain: A Narrative Review of Behavioral and Neural Data.Cognitive, affective & behavioral neuroscience · 2022Review
- Dissecting autism and schizophrenia through neuroimaging genomics.Brain : a journal of neurology · 2021Review
- Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.Human genetics · 2021Article
- From Learning to Memory: A Comparison Between Verbal and Non-verbal Skills in 22q11.2 Deletion Syndrome.Frontiers in psychiatry · 2021Article
- Layers II/III of Prefrontal Cortex in Df(h22q11)/+ Mouse Model of the 22q11.2 Deletion Display Loss of Parvalbumin Interneurons and Modulation of Neuronal Morphology and Excitability.Molecular neurobiology · 2020Article
- Assessing auditory processing endophenotypes associated with Schizophrenia in individuals with 22q11.2 deletion syndrome.Translational psychiatry · 2020Article
- Vulnerability to Psychosis: A Psychoanalytical Perspective. The Paradigmatic Example of 22q11.2 Microdeletion Syndrome.Frontiers in psychology · 2020Article
- Atypical response inhibition and error processing in 22q11.2 Deletion Syndrome and schizophrenia: Towards neuromarkers of disease progression and risk.NeuroImage. Clinical · 2020Article
- Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.American journal of speech-language pathology · 2019Review
- Continuous performance test impairment in a 22q11.2 microdeletion mouse model: improvement by amphetamine.Translational psychiatry · 2018Article
- Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.American journal of medical genetics. Part A · 2018Review
- Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.American journal of medical genetics. Part A · 2018Review
- Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.American journal of medical genetics. Part A · 2018Review
- Young Adult Outcomes for Children With 22q11 Deletion Syndrome and Comorbid ADHD.Journal of pediatric psychology · 2018Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
22q11.2 Deletion syndrome has become an important model for understanding the pathophysiology of neurodevelopmental conditions, particularly schizophrenia which develops in about 20-25% of individuals with a chromosome 22q11.2 microdeletion. From the initial discovery of the syndrome, associated developmental delays made it clear that changes in brain development were a key part of the expression. Once patients were followed through childhood into adult years, further neurobehavioural phenotypes became apparent, including a changing cognitive profile, anxiety disorders and seizure diathesis. The variability of expression is as wide as for the myriad physical features associated with the syndrome, with the addition of evolving phenotype over the developmental trajectory. Notably, variability appears unrelated to length of the associated deletion. Several mouse models of the deletion have been engineered and are beginning to reveal potential molecular mechanisms for the cognitive and behavioural phenotypes observable in animals. Both animal and human studies hold great promise for further discoveries relevant to neurodevelopment and associated cognitive, behavioural and psychiatric disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.