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 …

The Blood–Brain Barrier: Composition, Properties, and Roles in Brain Health

B Lacoste, A Prat… - Cold Spring Harbor …, 2024 - cshperspectives.cshlp.org
Blood vessels are critical to deliver oxygen and nutrients to tissues and organs throughout
the body. The blood vessels that vascularize the central nervous system (CNS) possess …

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11. 2 deletion syndrome

RW Davies, AM Fiksinski, EJ Breetvelt, NM Williams… - Nature medicine, 2020 - nature.com
Abstract The 22q11. 2 deletion syndrome (22q11DS) is associated with a 20–25% risk of
schizophrenia. In a cohort of 962 individuals with 22q11DS, we examined the shared …

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 …

Genetic contributors to risk of schizophrenia in the presence of a 22q11. 2 deletion

I Cleynen, W Engchuan, MS Hestand, T Heung… - Molecular …, 2021 - nature.com
Schizophrenia occurs in about one in four individuals with 22q11. 2 deletion syndrome
(22q11. 2DS). The aim of this International Brain and Behavior 22q11. 2DS Consortium …

Molecular genetics of 22q11. 2 deletion syndrome

BE Morrow, DM McDonald‐McGinn… - American journal of …, 2018 - Wiley Online Library
The 22q11. 2 deletion syndrome (22q11. 2DS) is a congenital malformation and
neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals …

From neurodevelopmental to neurodegenerative disorders: the vascular continuum

J Ouellette, B Lacoste - Frontiers in Aging Neuroscience, 2021 - frontiersin.org
Structural and functional integrity of the cerebral vasculature ensures proper brain
development and function, as well as healthy aging. The inability of the brain to store energy …

Neurobiological perspective of 22q11. 2 deletion syndrome

JR Zinkstok, E Boot, AS Bassett, N Hiroi… - The Lancet …, 2019 - thelancet.com
Summary 22q11. 2 deletion syndrome is characterised by a well defined microdeletion that
is associated with a high risk of neuropsychiatric disorders, including intellectual disability …

A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11. 2 deletion syndrome

AM Fiksinski, GD Hoftman, JAS Vorstman… - Molecular …, 2023 - nature.com
Recently, increasing numbers of rare pathogenic genetic variants have been identified that
are associated with variably elevated risks of a range of neurodevelopmental outcomes …

Mapping subcortical brain alterations in 22q11. 2 deletion syndrome: Effects of deletion size and convergence with idiopathic neuropsychiatric illness

CRK Ching, BA Gutman, D Sun… - American Journal of …, 2020 - Am Psychiatric Assoc
Objective: 22q11. 2 deletion syndrome (22q11DS) is among the strongest known genetic
risk factors for schizophrenia. Previous studies have reported variable alterations in …