The autism spectrum: behavioral, psychiatric and genetic associations

A Genovese, MG Butler - Genes, 2023 - mdpi.com
Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic
neurobehavioral disorders associated with developmental impairments in social …

Clinical assessment, genetics, and treatment approaches in autism spectrum disorder (ASD)

A Genovese, MG Butler - International journal of molecular sciences, 2020 - mdpi.com
Autism spectrum disorder (ASD) consists of a genetically heterogenous group of
neurobehavioral disorders characterized by impairment in three behavioral domains …

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

X Zhou, P Feliciano, C Shu, T Wang, I Astrovskaya… - Nature …, 2022 - nature.com
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …

Autism genes converge on asynchronous development of shared neuron classes

B Paulsen, S Velasco, AJ Kedaigle, M Pigoni… - Nature, 2022 - nature.com
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …

Genomic architecture of autism from comprehensive whole-genome sequence annotation

B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders

AM Valencia, A Sankar, PJ van der Sluijs… - Nature Genetics, 2023 - nature.com
DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …

The contributions of rare inherited and polygenic risk to ASD in multiplex families

M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - National Acad Sciences
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …

Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis

A Jourdon, F Wu, J Mariani, D Capauto, S Norton… - Nature …, 2023 - nature.com
Idiopathic autism spectrum disorder (ASD) is highly heterogeneous, and it remains unclear
how convergent biological processes in affected individuals may give rise to symptoms …

Genome-wide detection of tandem DNA repeats that are expanded in autism

B Trost, W Engchuan, CM Nguyen… - Nature, 2020 - nature.com
Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded,
these tandem DNA repeats have been associated with more than 40 monogenic disorders …

Detection of unamplified target genes via CRISPR–Cas9 immobilized on a graphene field-effect transistor

R Hajian, S Balderston, T Tran, T DeBoer… - Nature biomedical …, 2019 - nature.com
Most methods for the detection of nucleic acids require many reagents and expensive and
bulky instrumentation. Here, we report the development and testing of a graphene-based …