An overview of autism spectrum disorder, heterogeneity and treatment options

A Masi, MM DeMayo, N Glozier, AJ Guastella - Neuroscience bulletin, 2017 - Springer
Since the documented observations of Kanner in 1943, there has been great debate about
the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known …

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 …

T cell egress via lymphatic vessels is tuned by antigen encounter and limits tumor control

MM Steele, A Jaiswal, I Delclaux, ID Dryg… - Nature …, 2023 - nature.com
Antigen-specific CD8+ T cell accumulation in tumors is a prerequisite for effective
immunotherapy, and yet the mechanisms of lymphocyte transit are not well defined. Here we …

Inherited and de novo genetic risk for autism impacts shared networks

EK Ruzzo, L Pérez-Cano, JY Jung, L Wang… - Cell, 2019 - cell.com
We performed a comprehensive assessment of rare inherited variation in autism spectrum
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …

Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk

J Zhou, CY Park, CL Theesfeld, AK Wong, Y Yuan… - Nature …, 2019 - nature.com
We address the challenge of detecting the contribution of noncoding mutations to disease
with a deep-learning-based framework that predicts the specific regulatory effects and the …

Emerging connections between cerebellar development, behaviour and complex brain disorders

A Sathyanesan, J Zhou, J Scafidi, DH Heck… - Nature Reviews …, 2019 - nature.com
The human cerebellum has a protracted developmental timeline compared with the
neocortex, expanding the window of vulnerability to neurological disorders. As the …

The ASD Living Biology: from cell proliferation to clinical phenotype

E Courchesne, T Pramparo, VH Gazestani… - Molecular …, 2019 - nature.com
Autism spectrum disorder (ASD) has captured the attention of scientists, clinicians and the
lay public because of its uncertain origins and striking and unexplained clinical …

Applications of supervised machine learning in autism spectrum disorder research: a review

KK Hyde, MN Novack, N LaHaye… - Review Journal of …, 2019 - Springer
Autism spectrum disorder (ASD) research has yet to leverage “big data” on the same scale
as other fields; however, advancements in easy, affordable data collection and analysis may …

Single-cell transcriptomic analysis of mouse neocortical development

L Loo, JM Simon, L Xing, ES McCoy… - Nature …, 2019 - nature.com
The development of the mammalian cerebral cortex depends on careful orchestration of
proliferation, maturation, and migration events, ultimately giving rise to a wide variety of …

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

P Feliciano, X Zhou, I Astrovskaya, TN Turner… - NPJ genomic …, 2019 - nature.com
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a
combination of rare de novo and inherited variants as well as common variants in at least …