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

M Karayiorgou, TJ Simon, JA Gogos - Nature Reviews Neuroscience, 2010 - nature.com
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 …

The 22q11. 2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders

LJ Drew, GW Crabtree, S Markx, KL Stark… - International Journal of …, 2011 - Elsevier
Over the last fifteen years it has become established that 22q11. 2 deletion syndrome
(22q11DS) is a true genetic risk factor for schizophrenia. Carriers of deletions in …

Cognitive, behavioural and psychiatric phenotype in 22q11. 2 deletion syndrome

N Philip, A Bassett - Behavior genetics, 2011 - Springer
Abstract 22q11. 2 Deletion syndrome has become an important model for understanding the
pathophysiology of neurodevelopmental conditions, particularly schizophrenia which …

Copy number variations and risk for schizophrenia in 22q11. 2 deletion syndrome

AS Bassett, CR Marshall, AC Lionel… - Human molecular …, 2008 - academic.oup.com
Abstract 22q11. 2 Deletion Syndrome (22q11. 2DS) is a common microdeletion syndrome
with congenital and late-onset features. Testing for the genomic content of copy number …

Large-scale mapping of cortical alterations in 22q11. 2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size

D Sun, CRK Ching, A Lin, JK Forsyth, L Kushan… - Molecular …, 2020 - nature.com
Abstract The 22q11. 2 deletion (22q11DS) is a common chromosomal microdeletion and a
potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in …

[HTML][HTML] Structural abnormalities in cortical volume, thickness, and surface area in 22q11. 2 microdeletion syndrome: relationship with psychotic symptoms

M Jalbrzikowski, R Jonas, D Senturk, A Patel… - NeuroImage: Clinical, 2013 - Elsevier
Abstract Introduction 22q11. 2 deletion syndrome (22q11DS) represents one of the largest
known genetic risk factors for psychosis, yet the neurobiological mechanisms underlying …

A mouse model that recapitulates cardinal features of the 15q13. 3 microdeletion syndrome including schizophrenia-and epilepsy-related alterations

K Fejgin, J Nielsen, MR Birknow, JF Bastlund… - Biological …, 2014 - Elsevier
Background Genome-wide scans have uncovered rare copy number variants conferring
high risk of psychiatric disorders. The 15q13. 3 microdeletion is associated with a …

A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11. 2 Deletion Syndrome Brain Behavior Consortium

RE Gur, AS Bassett, DM McDonald-McGinn… - Molecular …, 2017 - nature.com
Rare copy number variants contribute significantly to the risk for schizophrenia, with the
22q11. 2 locus consistently implicated. Individuals with the 22q11. 2 deletion syndrome …

Schizophrenic‐like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome

KE Lewandowski, V Shashi, PM Berry… - American Journal of …, 2007 - Wiley Online Library
Abstract 22q11. 2 Deletion Syndrome (22q11DS) is the most common genetic microdeletion
syndrome affecting humans. The syndrome is associated with general cognitive impairments …

The pattern of cortical dysfunction in a mouse model of a schizophrenia-related microdeletion

K Fénelon, B Xu, CS Lai, J Mukai, S Markx… - Journal of …, 2013 - Soc Neuroscience
We used a mouse model of the schizophrenia-predisposing 22q11. 2 microdeletion to
evaluate how this genetic lesion affects cortical neural circuits at the synaptic, cellular, and …