[HTML][HTML] Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation

H Hodges, C Fealko, N Soares - Translational pediatrics, 2020 - ncbi.nlm.nih.gov
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits
in social communication and the presence of restricted interests and repetitive behaviors …

Mechanisms governing activity-dependent synaptic pruning in the developing mammalian CNS

TE Faust, G Gunner, DP Schafer - Nature Reviews Neuroscience, 2021 - nature.com
Almost 60 years have passed since the initial discovery by Hubel and Wiesel that changes
in neuronal activity can elicit developmental rewiring of the central nervous system (CNS) …

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins… - Nature …, 2022 - nature.com
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

[HTML][HTML] 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 resulting …

[HTML][HTML] Maternal acute and chronic inflammation in pregnancy is associated with common neurodevelopmental disorders: a systematic review

VX Han, S Patel, HF Jones, TC Nielsen… - Translational …, 2021 - nature.com
Inflammation is increasingly recognized as a cause or consequence of common problems of
humanity including obesity, stress, depression, pollution and disease states such as …

Advances in epigenetics link genetics to the environment and disease

G Cavalli, E Heard - Nature, 2019 - nature.com
Epigenetic research has accelerated rapidly in the twenty-first century, generating justified
excitement and hope, but also a degree of hype. Here we review how the field has evolved …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

[PDF][PDF] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

FK Satterstrom, JA Kosmicki, J Wang, MS Breen… - Cell, 2020 - cell.com
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …