Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

[PDF][PDF] Insufficient evidence for “autism-specific” genes

SM Myers, TD Challman, R Bernier, T Bourgeron… - The American Journal of …, 2020 - cell.com
Despite evidence that deleterious variants in the same genes are implicated across multiple
neurodevelopmental and neuropsychiatric disorders, there has been considerable interest …

[PDF][PDF] A cross-disorder dosage sensitivity map of the human genome

RL Collins, JT Glessner, E Porcu, M Lepamets… - Cell, 2022 - cell.com
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

Autism spectrum disorder: A review

T Hirota, BH King - Jama, 2023 - jamanetwork.com
Importance Autism spectrum disorder (ASD), characterized by deficits in social
communication and the presence of restricted, repetitive behaviors or interests, is a …

Pleiotropy and cross-disorder genetics among psychiatric disorders

PH Lee, YCA Feng, JW Smoller - Biological psychiatry, 2021 - Elsevier
Genome-wide analyses of common and rare genetic variations have documented the
heritability of major psychiatric disorders, established their highly polygenic genetic …

Operative list of genes associated with autism and neurodevelopmental disorders based on database review

CS Leblond, TL Le, S Malesys, F Cliquet… - Molecular and Cellular …, 2021 - Elsevier
The genetics of neurodevelopmental disorders (NDD) has made tremendous progress
during the last few decades with the identification of more than 1,500 genes associated with …

Genetic and epigenetic etiology underlying autism spectrum disorder

SH Yoon, J Choi, WJ Lee, JT Do - Journal of clinical medicine, 2020 - mdpi.com
Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized
by difficulties in social interaction, language development delays, repeated body …

[PDF][PDF] Rapidly evolving viral motifs mostly target biophysically constrained binding pockets of host proteins

G Shuler, T Hagai - Cell Reports, 2022 - cell.com
Evolutionary changes in host-virus interactions can alter the course of infection, but the
biophysical and regulatory constraints that shape interface evolution remain largely …

[PDF][PDF] Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development

WH Cuddleston, X Fan, L Sloofman, L Liang… - Cell reports, 2022 - cell.com
Posttranscriptional RNA modifications by adenosine-to-inosine (A-to-I) editing are abundant
in the brain, yet elucidating functional sites remains challenging. To bridge this gap, we …

[HTML][HTML] Copy number variation and neuropsychiatric illness

E Rees, G Kirov - Current Opinion in Genetics & Development, 2021 - Elsevier
Copy number variants (CNVs) at specific loci have been identified as important risk factors
for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder …