Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

Neurodevelopmental disorders—the history and future of a diagnostic concept

DJ Morris-Rosendahl, MA Crocq - Dialogues in clinical …, 2020 - Taylor & Francis
This article describes the history of the diagnostic class of neurodevelopmental disorders
(NDDs) up to DSM-5. We further analyze how the development of genetics will transform the …

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

[PDF][PDF] ComBat-seq: batch effect adjustment for RNA-seq count data

Y Zhang, G Parmigiani… - NAR genomics and …, 2020 - academic.oup.com
The benefit of integrating batches of genomic data to increase statistical power is often
hindered by batch effects, or unwanted variation in data caused by differences in technical …

Brain Chimeroids reveal individual susceptibility to neurotoxic triggers

N Antón-Bolaños, I Faravelli, T Faits, S Andreadis… - Nature, 2024 - nature.com
Interindividual genetic variation affects the susceptibility to and progression of many
diseases,. However, efforts to study how individual human brains differ in normal …

[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

FK Satterstrom, JA Kosmicki, J Wang, MS Breen… - Cell, 2020 - cell.com
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

JJ Lee, R Wedow, A Okbay, E Kong, O Maghzian… - Nature …, 2018 - nature.com
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …

Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis

A Jourdon, F Wu, J Mariani, D Capauto, S Norton… - Nature …, 2023 - nature.com
Idiopathic autism spectrum disorder (ASD) is highly heterogeneous, and it remains unclear
how convergent biological processes in affected individuals may give rise to symptoms …

Individual brain organoids reproducibly form cell diversity of the human cerebral cortex

S Velasco, AJ Kedaigle, SK Simmons, A Nash… - Nature, 2019 - nature.com
Experimental models of the human brain are needed for basic understanding of its
development and disease. Human brain organoids hold unprecedented promise for this …

Multi-platform discovery of haplotype-resolved structural variation in human genomes

MJP Chaisson, AD Sanders, X Zhao, A Malhotra… - Nature …, 2019 - nature.com
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …