[HTML][HTML] Neurodevelopmental disorders: from genetics to functional pathways

I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …

Heritability of autism spectrum disorders: a meta‐analysis of twin studies

B Tick, P Bolton, F Happé, M Rutter… - Journal of Child …, 2016 - Wiley Online Library
Background The etiology of Autism Spectrum Disorder (ASD) has been recently debated
due to emerging findings on the importance of shared environmental influences. However …

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

MJ Gandal, P Zhang, E Hadjimichael, RL Walker… - Science, 2018 - science.org
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …

Recent ultra-rare inherited variants implicate new autism candidate risk genes

AB Wilfert, TN Turner, SC Murali, PH Hsieh… - Nature …, 2021 - nature.com
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

HAF Stessman, BO Xiong, BP Coe, T Wang… - Nature …, 2017 - nature.com
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …

Emerging roles for the gut microbiome in autism spectrum disorder

HE Vuong, EY Hsiao - Biological psychiatry, 2017 - Elsevier
Autism spectrum disorder (ASD) is a serious neurodevelopmental disorder that affects one
in 45 children in the United States, with a similarly striking prevalence in countries around …

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 …

Hippocampal GABAergic inhibitory interneurons

KA Pelkey, R Chittajallu, MT Craig… - Physiological …, 2017 - journals.physiology.org
In the hippocampus GABAergic local circuit inhibitory interneurons represent only~ 10–15%
of the total neuronal population; however, their remarkable anatomical and physiological …

[HTML][HTML] Altered composition and function of intestinal microbiota in autism spectrum disorders: a systematic review

F Liu, J Li, F Wu, H Zheng, Q Peng, H Zhou - Translational psychiatry, 2019 - nature.com
At present, the pathophysiology of autism spectrum disorder (ASD) remains unclear.
Increasing evidence suggested that gut microbiota plays a critical role in gastrointestinal …

[HTML][HTML] Getting to the cores of autism

LM Iakoucheva, AR Muotri, J Sebat - Cell, 2019 - cell.com
The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic
spectrum that consists of rare de novo or inherited variants in hundreds of genes and …