Autism spectrum disorder: neuropathology and animal models

M Varghese, N Keshav, S Jacot-Descombes… - Acta …, 2017 - Springer
Autism spectrum disorder (ASD) has a major impact on the development and social
integration of affected individuals and is the most heritable of psychiatric disorders. An …

A synaptic perspective of fragile X syndrome and autism spectrum disorders

C Bagni, RS Zukin - Neuron, 2019 - cell.com
Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS),
autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are …

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

D Antaki, J Guevara, AX Maihofer, M Klein, M Gujral… - Nature …, 2022 - nature.com
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how
combinations of genetic factors determine risk is unclear. In a large family sample, we show …

Early brain development in infants at high risk for autism spectrum disorder

HC Hazlett, H Gu, BC Munsell, SH Kim, M Styner… - Nature, 2017 - nature.com
Brain enlargement has been observed in children with autism spectrum disorder (ASD), but
the timing of this phenomenon, and the relationship between ASD and the appearance of …

Discovering the gene-brain-behavior link in autism via generative machine learning

S Kundu, H Sair, EH Sherr, P Mukherjee… - Science advances, 2024 - science.org
Autism is traditionally diagnosed behaviorally but has a strong genetic basis. A genetics-first
approach could transform understanding and treatment of autism. However, isolating the …

Genetics of structural and functional brain changes in autism spectrum disorder

S Hashem, S Nisar, AA Bhat, SK Yadav… - Translational …, 2020 - nature.com
Autism spectrum disorder (ASD) is a neurological and developmental disorder characterized
by social impairment and restricted interactive and communicative behaviors. It may occur …

16p11. 2 copy number variations and neurodevelopmental disorders

B Rein, Z Yan - Trends in neurosciences, 2020 - cell.com
Copy number variations (CNVs) of the human 16p11. 2 genetic locus are associated with a
range of neurodevelopmental disorders, including autism spectrum disorder, intellectual …

Defining the effect of the 16p11. 2 duplication on cognition, behavior, and medical comorbidities

D D'Angelo, S Lebon, Q Chen, S Martin-Brevet… - JAMA …, 2016 - jamanetwork.com
Importance The 16p11. 2 BP4-BP5 duplication is the copy number variant most frequently
associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as …

The emerging clinical neuroscience of autism spectrum disorder: a review

RA Muhle, HE Reed, KA Stratigos… - JAMA …, 2018 - jamanetwork.com
Importance Autism spectrum disorder (ASD) is a highly prevalent disorder, and community
psychiatrists are likely to treat many individuals with ASD during their clinical practice. This …

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling

M Richter, N Murtaza, R Scharrenberg, SH White… - Molecular …, 2019 - nature.com
Atypical brain connectivity is a major contributor to the pathophysiology of
neurodevelopmental disorders (NDDs) including autism spectrum disorders (ASDs). TAOK2 …