Getting to the cores of autism
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 …
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
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 …
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 …
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
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 …
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 …
(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 …
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 …
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 …
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
Recently, increasing numbers of rare pathogenic genetic variants have been identified that
are associated with variably elevated risks of a range of neurodevelopmental outcomes …
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
Objective: 22q11. 2 deletion syndrome (22q11DS) is among the strongest known genetic
risk factors for schizophrenia. Previous studies have reported variable alterations in …
risk factors for schizophrenia. Previous studies have reported variable alterations in …