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 …

Genetics and genomics of psychiatric disease

DH Geschwind, J Flint - Science, 2015 - science.org
Large-scale genomic investigations have just begun to illuminate the molecular genetic
contributions to major psychiatric illnesses, ranging from small-effect-size common variants …

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

MJ Gandal, JR Haney, NN Parikshak, V Leppa… - Science, 2018 - science.org
The predisposition to neuropsychiatric disease involves a complex, polygenic, and
pleiotropic genetic architecture. However, little is known about how genetic variants impart …

The autism brain imaging data exchange: towards a large-scale evaluation of the intrinsic brain architecture in autism

A Di Martino, CG Yan, Q Li, E Denio… - Molecular …, 2014 - nature.com
Autism spectrum disorders (ASDs) represent a formidable challenge for psychiatry and
neuroscience because of their high prevalence, lifelong nature, complexity and substantial …

Refining analyses of copy number variation identifies specific genes associated with developmental delay

BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon… - Nature …, 2014 - nature.com
Copy number variants (CNVs) are associated with many neurocognitive disorders; however,
these events are typically large, and the underlying causative genes are unclear. We …

[PDF][PDF] Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

D Pinto, E Delaby, D Merico, M Barbosa… - The American Journal of …, 2014 - cell.com
Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …

Gene hunting in autism spectrum disorder: on the path to precision medicine

DH Geschwind - The Lancet Neurology, 2015 - thelancet.com
Autism spectrum disorder is typical of the majority of neuropsychiatric syndromes in that it is
defined by signs and symptoms, rather than by aetiology. Not surprisingly, the causes of this …

Genetics and epigenetics of autism spectrum disorder—current evidence in the field

B Wiśniowiecka-Kowalnik, BA Nowakowska - Journal of applied genetics, 2019 - Springer
Autism spectrum disorders (ASD) is a heterogenous group of neurodevelopmental disorders
characterized by problems in social interaction and communication as well as the presence …

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

A Krishnan, R Zhang, V Yao, CL Theesfeld… - Nature …, 2016 - nature.com
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong
genetic basis. Yet, only a small fraction of potentially causal genes—about 65 genes out of …

[PDF][PDF] Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci

SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek… - Neuron, 2015 - cell.com
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC)(N=
2,591 families) replicates prior findings of strong association with autism spectrum disorders …