Getting to the cores of autism

LM Iakoucheva, AR Muotri, J Sebat - Cell, 2019 - cell.com
The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic
spectrum that consists of rare de novo or inherited variants in hundreds of genes and …

Genes to mental health (G2MH): a framework to map the combined effects of rare and common variants on dimensions of cognition and psychopathology

S Jacquemont, G Huguet, M Klein… - American Journal of …, 2022 - Am Psychiatric Assoc
Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric
disorders. In this era of intense genomics discoveries, the landscape of RGDs is rapidly …

Neuronal defects in a human cellular model of 22q11. 2 deletion syndrome

TA Khan, O Revah, A Gordon, SJ Yoon, AK Krawisz… - Nature Medicine, 2020 - nature.com
Abstract 22q11. 2 deletion syndrome (22q11DS) is a highly penetrant and common genetic
cause of neuropsychiatric disease. Here we generated induced pluripotent stem cells from …

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] The role of the gut microbiome in the development of schizophrenia

JR Kelly, C Minuto, JF Cryan, G Clarke… - Schizophrenia Research, 2021 - Elsevier
Schizophrenia is a heterogeneous neurodevelopmental disorder involving the convergence
of a complex and dynamic bidirectional interaction of genetic expression and the …

Risk of psychiatric disorders among individuals with the 22q11. 2 deletion or duplication: a Danish nationwide, register-based study

LK Hoeffding, BB Trabjerg, L Olsen, W Mazin… - JAMA …, 2017 - jamanetwork.com
Importance Microdeletions and duplications have been described at the 22q11. 2 locus.
However, little is known about the clinical and epidemiologic consequences at the …

The 22q11. 2 region regulates presynaptic gene-products linked to schizophrenia

R Nehme, O Pietiläinen, M Artomov… - Nature …, 2022 - nature.com
It is unclear how the 22q11. 2 deletion predisposes to psychiatric disease. To study this, we
generated induced pluripotent stem cells from deletion carriers and controls and utilized …

Aberrant developmental patterns of gamma-band response and long-range communication disruption in youths with 22q11. 2 deletion syndrome

V Mancini, V Rochas, M Seeber… - American Journal of …, 2022 - Am Psychiatric Assoc
Objective: Brain oscillations play a pivotal role in synchronizing responses of local and
global ensembles of neurons. Patients with schizophrenia exhibit impairments in oscillatory …

Magnitude and heterogeneity of brain structural abnormalities in 22q11. 2 deletion syndrome: a meta-analysis

M Rogdaki, M Gudbrandsen, RA McCutcheon… - Molecular …, 2020 - nature.com
Abstract The 22q11. 2 deletion syndrome (22q11. 2DS) is a neurodevelopmental disorder
associated with a number of volumetric brain abnormalities. The syndrome is also …

Genetic consideration of schizotypal traits: A review

EE Walter, F Fernandez, M Snelling… - Frontiers in …, 2016 - frontiersin.org
Schizotypal traits are of interest and importance in their own right and also have theoretical
and clinical associations with schizophrenia. These traits comprise attenuated psychotic …