Genetic advances in autism
A Thapar, M Rutter - Journal of autism and developmental disorders, 2021 - Springer
In the last 40 years, there has been a huge increase in autism genetics research and a
rapidly growing number of discoveries. We now know autism is one of the most highly …
rapidly growing number of discoveries. We now know autism is one of the most highly …
The contribution of copy number variants to psychiatric symptoms and cognitive ability
Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most
frequently studied CNVs, which are described in this review, are recurrent CNVs that occur …
frequently studied CNVs, which are described in this review, are recurrent CNVs that occur …
16p11. 2 deletion syndrome
WK Chung, TPL Roberts, EH Sherr, LAG Snyder… - Current opinion in …, 2021 - Elsevier
The 16p11. 2 BP4 and BP5 region, is a recurrent∼ 600 kb copy number variant (CNV), and
deletions are one of the most frequent etiologies of neurodevelopmental disorders and …
deletions are one of the most frequent etiologies of neurodevelopmental disorders and …
Detecting microstructural deviations in individuals with deep diffusion MRI tractometry
Most diffusion magnetic resonance imaging studies of disease rely on statistical
comparisons between large groups of patients and healthy participants to infer altered tissue …
comparisons between large groups of patients and healthy participants to infer altered tissue …
Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs
Abstract The Enhancing NeuroImaging Genetics through Meta‐Analysis copy number
variant (ENIGMA‐CNV) and 22q11. 2 Deletion Syndrome Working Groups (22q‐ENIGMA …
variant (ENIGMA‐CNV) and 22q11. 2 Deletion Syndrome Working Groups (22q‐ENIGMA …
Longitudinal trajectories of cortical development in 22q11. 2 copy number variants and typically developing controls
M Jalbrzikowski, A Lin, A Vajdi, V Grigoryan… - Molecular …, 2022 - nature.com
Probing naturally-occurring, reciprocal genomic copy number variations (CNVs) may help us
understand mechanisms that underlie deviations from typical brain development. Cross …
understand mechanisms that underlie deviations from typical brain development. Cross …
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 …
disorders. In this era of intense genomics discoveries, the landscape of RGDs is rapidly …
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence
Copy number variations (CNVs) are rare genomic deletions and duplications that can affect
brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared …
brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared …
Convergence and divergence of rare genetic disorders on brain phenotypes: a review
Importance Rare genetic disorders modulating gene expression—as exemplified by gene
dosage disorders (GDDs)—represent a collectively common set of high-risk factors for …
dosage disorders (GDDs)—represent a collectively common set of high-risk factors for …
A genetics-first approach to dissecting the heterogeneity of autism: phenotypic comparison of autism risk copy number variants
SJRA Chawner, JL Doherty… - American Journal of …, 2021 - Am Psychiatric Assoc
Objective: Certain copy number variants (CNVs) greatly increase the risk of autism. The
authors conducted a genetics-first study to investigate whether heterogeneity in the clinical …
authors conducted a genetics-first study to investigate whether heterogeneity in the clinical …