Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Advancing the use of genome-wide association studies for drug repurposing

WR Reay, MJ Cairns - Nature Reviews Genetics, 2021 - nature.com
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …

Map** genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

N Mullins, AJ Forstner, KS O'Connell, B Coombes… - Nature …, 2021 - nature.com
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …

Genetic control of RNA splicing and its distinct role in complex trait variation

T Qi, Y Wu, H Fang, F Zhang, S Liu, J Zeng, J Yang - Nature genetics, 2022 - nature.com
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …

[HTML][HTML] An in vivo neuroimmune organoid model to study human microglia phenotypes

ST Schafer, AAF Mansour, JCM Schlachetzki, M Pena… - Cell, 2023 - cell.com
Microglia are specialized brain-resident macrophages that play crucial roles in brain
development, homeostasis, and disease. However, until now, the ability to model …

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

D Demontis, GB Walters, G Athanasiadis, R Walters… - Nature …, 2023 - nature.com
Attention-deficit hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder
with a major genetic component. Here, we present a genome-wide association study meta …

Standardizing workflows in imaging transcriptomics with the abagen toolbox

RD Markello, A Arnatkeviciute, JB Poline, BD Fulcher… - elife, 2021 - elifesciences.org
Gene expression fundamentally shapes the structural and functional architecture of the
human brain. Open-access transcriptomic datasets like the Allen Human Brain Atlas provide …

Multi-ancestry genome-wide association study of cannabis use disorder yields insight into disease biology and public health implications

DF Levey, M Galimberti, JD Deak, FR Wendt… - Nature Genetics, 2023 - nature.com
As recreational use of cannabis is being decriminalized in many places and medical use
widely sanctioned, there are growing concerns about increases in cannabis use disorder …

Transcriptome-scale spatial gene expression in the human dorsolateral prefrontal cortex

KR Maynard, L Collado-Torres, LM Weber… - Nature …, 2021 - nature.com
We used the 10x Genomics Visium platform to define the spatial topography of gene
expression in the six-layered human dorsolateral prefrontal cortex. We identified extensive …