The diagnosis of autism: From Kanner to DSM-III to DSM-5 and beyond

NE Rosen, C Lord, FR Volkmar - Journal of autism and developmental …, 2021 - Springer
In this paper we review the impact of DSM-III and its successors on the field of autism—both
in terms of clinical work and research. We summarize the events leading up to the inclusion …

SHANK proteins: roles at the synapse and in autism spectrum disorder

P Monteiro, G Feng - Nature Reviews Neuroscience, 2017 - nature.com
Several large-scale genomic studies have supported an association between cases of
autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat …

The neurodiversity approach (es): What are they and what do they mean for researchers?

P Dwyer - Human development, 2022 - karger.com
This paper presents the concepts of “neurodiversity” and the “neurodiversity approaches”
towards disability and discusses how confusion regarding the meaning of these concepts …

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

RK C Yuen, D Merico, M Bookman, JL Howe… - Nature …, 2017 - nature.com
We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …

Advancing the understanding of autism disease mechanisms through genetics

L de la Torre-Ubieta, H Won, JL Stein… - Nature medicine, 2016 - nature.com
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …

The bowel and beyond: the enteric nervous system in neurological disorders

M Rao, MD Gershon - Nature reviews Gastroenterology & hepatology, 2016 - nature.com
The enteric nervous system (ENS) is large, complex and uniquely able to orchestrate
gastrointestinal behaviour independently of the central nervous system (CNS). An intact …

From the genetic architecture to synaptic plasticity in autism spectrum disorder

T Bourgeron - Nature Reviews Neuroscience, 2015 - nature.com
Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that
are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been …

Synaptic, transcriptional and chromatin genes disrupted in autism

S De Rubeis, X He, AP Goldberg, CS Poultney… - Nature, 2014 - nature.com
The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

A framework for the interpretation of de novo mutation in human disease

KE Samocha, EB Robinson, SJ Sanders, C Stevens… - Nature …, 2014 - nature.com
Spontaneously arising (de novo) mutations have an important role in medical genetics. For
diseases with extensive locus heterogeneity, such as autism spectrum disorders (ASDs), the …

Modeling gene× environment interactions in PTSD using human neurons reveals diagnosis-specific glucocorticoid-induced gene expression

C Seah, MS Breen, T Rusielewicz, HN Bader… - Nature …, 2022 - nature.com
Post-traumatic stress disorder (PTSD) can develop following severe trauma, but the extent to
which genetic and environmental risk factors contribute to individual clinical outcomes is …