Autism genetics: opportunities and challenges for clinical translation

JAS Vorstman, JR Parr, D Moreno-De-Luca… - Nature Reviews …, 2017 - nature.com
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

The role of the immune system in autism spectrum disorder

A Meltzer, J Van de Water - Neuropsychopharmacology, 2017 - nature.com
Autism is a neurodevelopmental disorder characterized by deficits in communication and
social skills as well as repetitive and stereotypical behaviors. While much effort has focused …

A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies

Y Kang, Y Zhou, Y Li, Y Han, J Xu, W Niu, Z Li… - Nature …, 2021 - nature.com
Fragile X syndrome (FXS) is caused by the loss of fragile X mental retardation protein
(FMRP), an RNA-binding protein that can regulate the translation of specific mRNAs. In this …

Genomic patterns of de novo mutation in simplex autism

TN Turner, BP Coe, DE Dickel, K Hoekzema… - Cell, 2017 - cell.com
To further our understanding of the genetic etiology of autism, we generated and analyzed
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …

[HTML][HTML] Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism

NN Parikshak, R Luo, A Zhang, H Won, JK Lowe… - Cell, 2013 - cell.com
Genetic studies have identified dozens of autism spectrum disorder (ASD) susceptibility
genes, raising two critical questions:(1) do these genetic loci converge on specific biological …

Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons

ST Schafer, ACM Paquola, S Stern, D Gosselin… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is thought to emerge during early cortical development.
However, the exact developmental stages and associated molecular networks that prime …

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

BS Abrahams, DE Arking, DB Campbell, HC Mefford… - Molecular autism, 2013 - Springer
New technologies enabling genome-wide interrogation have led to a large and rapidly
growing number of autism spectrum disorder (ASD) candidate genes. Although …

[HTML][HTML] FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

JC Darnell, SJ Van Driesche, C Zhang, KYS Hung… - Cell, 2011 - cell.com
FMRP loss of function causes Fragile X syndrome (FXS) and autistic features. FMRP is a
polyribosome-associated neuronal RNA-binding protein, suggesting that it plays a key role …

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

NN Parikshak, MJ Gandal, DH Geschwind - Nature Reviews Genetics, 2015 - nature.com
Genetic and genomic approaches have implicated hundreds of genetic loci in
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …

Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules

K Kochinke, C Zweier, B Nijhof, M Fenckova… - The American Journal of …, 2016 - cell.com
Intellectual disability (ID) disorders are genetically and phenotypically extremely
heterogeneous. Can this complexity be depicted in a comprehensive way as a means of …